angelman today november - december edition 2013
DESCRIPTION
Angelman Today online magazine is the first and only publication dedicated to parents, caretakers and professionals of individuals with special needs, specifically Angelman Syndrome. www.angelmantoday.comTRANSCRIPT
SPECIAL HOLIDAY EDITION
The History Of
What is a MAPS Dr
Celebrate the Holidays with Less Stress
Holiday gift
guide
digital magazine
The Holiday Season is upon us
lsquoTis the season for giving thanks and celebrating with friends and
family Time for office parties dinner parties and time to take-
out- the- good- dishes parties
I will began by thanking everyone who has helped create and
support Angelman Today Thanks to all of the readers that have
reached out and expressed your appreciation for having such a
wonderful new resource
I know that it is from the bottom of our hearts that we work so
hard to help bring the global community together and share our
experiences As parents we work on Angelman Today in between
caring for our Angels - which you know is a task-and-a- half - and
caring for our families andor working at other jobs The
Professionals of our medical and scientific advisory board
generously give of their limited time to write and send in articles
comments and quotes
I am so very grateful for the health of my family especially
Nathan who is doing amazingly well thanks to our MAPS
physicians I am thankful to every organization and community
member that has joined Angelman Today and shares the vision of
uniting a global community sharing resources information and
helping to improve the daily lives of individuals with Angelman
Syndrome everywhere I am truly amazed how quickly things are
happening and how Angelman Today is already reaching into
more than 40 countries and territories
I wish you all a very happy and healthy holiday season with close
friends and family and the friends that ARE family
Warm Wishes
Lizzie Sordia
Editor - in - Chief
EDITORrsquoS LETTER
Mosaicism in Angelman Syndromehellip6
By Dr Charles A Williams
The History of Angelman Syndromehellip7
Emergency Preparednesshelliphelliphelliphelliphellip9
Words of Wisdomhelliphelliphelliphelliphelliphelliphelliphellip13
What is a MAPS Dr
Interview with Dr David Bergerhelliphellip14
Christmas Gift Ideashelliphelliphelliphelliphelliphelliphellip17
Little Keeper Sleepershelliphelliphelliphelliphelliphellip19
LGIT (Low Glycemic Index Treatment)
Sweet Treat for the Holiday Season
by Sybille Kraft Bellamyhelliphelliphelliphelliphellip21
Managing Holiday Stresshelliphelliphelliphelliphellip24
by Eileen Braun
A Fatherrsquos View ndash By Peter Krafthelliphellip32
Angels in Action ndash Francoisehelliphelliphellip38
Clinical Trial for Seizures in
Children Using Cannabishelliphelliphelliphelliphellip39
Whatrsquos inside
Angelman and Associated
Foundations
Syndrome Angelman France hellip4
Casa Angelman Argentinahelliphelliphellip8
Angelman Syndrome Belgiumhellip12
THERAsurfhelliphelliphelliphelliphelliphelliphelliphelliphellip16
The Angelman Syndrome
Foundationhelliphelliphelliphelliphelliphelliphelliphelliphellip22
Angelman Syndrome
Association Spainhelliphelliphelliphelliphelliphellip28
The Angelman Network ndash New
Zealandhelliphelliphelliphelliphelliphelliphelliphelliphelliphellip31
Israeli Angelman Syndrome
Foundationhelliphelliphelliphelliphelliphelliphelliphelliphellip34
The Charlie Foundationhelliphelliphellip35
FASThelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip40
Cannabidiol (CBD)
clinical trial to begin 21 19
7 6
39
17
Cover
Nathan Sordia
5 yrs old AS
Syndrome Angelman France is an association created
nationally for those families and friends of people who have
the care of SAF The administration of SAF is composed of
families as well as professionals from the medical
paramedical and medico-social world The functioning of
SAF is totally assured by voluntary workers
What does the SAF Association propose
- Enchance the expertise of parents in organizing and
facilitating the dissemination of information and sharing
experiences This is why a website magazine has been
created and managed ( wwwsyndromeangelman-franceorg
) This site is interactive collaborative and has a regular
and consistent link with families spread over the five
continents
- Be a resource center for families having someone with this
disability in society
- Deepen reflection on their own disability of mental
handicap and thus contribute to others a view on this
difference
- Publicize the Angelman syndrome
- Encourage and help the research by informing and
sensibilizing medical paramedical social and medico-
social groups on traditional and innovative educational
methods adapted to the Angelman syndrome
- Cooperate by exchanges with other regional and national
associations who have the same values and objectives
Two SAF actions
- Inventory of individuals with Angelman syndrome
- Find the results of our investigation on the website
httpwww syndromeangelman-franceorgwp-
contentuploadsSurvey-Angelman-Adult-2013-Francepdf
Syndrome Angelman France wwwsyndromeangelman-franceorg
wwwfacebookcomSyndromeAngelmanFrance
A BOOK TO READ ldquoAngelman Syndrome - A look on
a rare neurogenetic diseaserdquo
This book is published by Editions
H prefaced by Professor DAN and
written by Anne Castle Anne is the
mother of a young adult Angelman
and Vice-president of the
Syndrome Angelman France
association
Collection Sciences et Socieacuteteacute ndash
Editions LrsquoHarmattan
BUY TODAY WITH THIS LINK
A lire Le SA Regard sur une
maladie neurogeacuteneacutetique rare un
livre publieacute aux eacuteditions H preacutefaceacute
par le Pr DAN et eacutecrit par Anne
Chacircteau maman drsquoun jeune adulte
A et Vice-preacutesidente de
lrsquoassociation SAF
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Thank You
A Big Thanks to all of the contributors that help
bring you Angelman Today
All of the Angelman
and Associated
Foundations
across the globe
Dr Charles Williams of University of Florida
Dr Elizabeth Thiele of Mass General
Dr David Berger of Wholistic Pediatrics
Contributors
Angelman Today Supporters
Sleep Safe Beds - wwwsleepsafebedcom
Little Keepers Sleepers ndash
wwwlittlekeepersleeperscom
MediPal ndash wwwmedipalcom
Sybille Kraft Bellamy
Peter Kraft
Charles De Broin
Eileen Braun
Anne Chateau
Karray Shwartz Cox
In the last edition I reviewed
the four genetic mechanisms
that can disrupt the Angelman
syndrome (AS) gene
chromosome deletion
imprinting defect mutation in
UBE3A and paternal
uniparental disomy When an
individual with AS has one of
these defects it is typically
present in every cell of the
body since the defect existed at
the time of conception when the
sperm and egg fused to form
the first cell of the embryo All
of the subsequent cells are thus
derived from this original cell
It is possible in rare situations
however for the AS defect to
occur after the first cell
divisions of the embryo such
that there is a normal and an
abnormal cell line the general
term for this phenomenon is
cell mosaicism
Mosaicism in an individual
with AS means that a few cells
in their body (and also in their
brain) are normal These
normal cells coexist with all of
the other cells that have the AS
defect Mosaicism in AS most
often occurs in imprinting
defects that do not involve
deletions of the imprinting
center (the great majority of
those with imprinting defects
are of this non-deletion type)
About 10 to 30 of individuals
with the non-deletion type may
have a small percent of their
cells that are normal
without the typical 15q112-q13
deletion For example 80 of the
cells in the blood may have the
typical AS deletion while 20 of
the cells are normal The same can
theoretically occur for those with
AS due to uniparental disomy To
my knowledge mosaicism for
UBE3A mutation identified by
blood study in an individual with
AS has not been reported but that
is also theoretically possible
In a mother who has an AS child
with a UBE3A mutation
mosaicism involving UBE3A has
been detected in her in what is
termed germline mosaicism
Here the mothers blood cells are
normal but apparently in her
ovaries there are egg (eg germ)
cells that have the UBE3A
mutation This situation is
presumed to be present for
example when the mother gives
birth to two subsequent children
with AS each having the same
UBE3A mutation but studies of
the mothers blood are completely
normal The diagram illustrates
this type of germline mosaicism
(blue cells are the normal cells) and
contrasts it to the other type of
mosaicism that is discussed above
termed ldquoconstitutionalrdquo meaning
that cells throughout the body are
involved
Understanding mosaicism in AS
can be complicated especially
when considering the possibility of
germline mosaicism in mothers
since this rare condition can lead to
recurrence of AS among siblings
We detect evidence of this by the
DNA methylation test that is
performed on blood When the test
suggests mosaicism we presume
(but do not really know) that cells
in the brain also have a similar
percentage of normal cells In
instances of imprinting mosaicism
the percent of normal cells is
usually less than 20 Individuals
with AS who are imprinting-type
mosaics can have relatively higher
developmental ability Some have
been noted to speak words and
even to put words together more
than is seen in the typical child
with AS who is non-mosaic They
may also have better motor ability
(eg almost normal walking) and
relatively higher cognitive skills
The three other mechanisms that
cause AS are much less likely to
have mosaicism but a few rare
instances have been reported
Chromosome studies (either
molecular or FISH-type) may
identify a small percent of cells
By Dr Charles A Williams
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician
who identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England
He was an enthusiast for the language and
country of Italy
He first observed three children who were
unrelated but showed similar symptoms of
severe intellectual delay stiff jerky gait lack of
speech seizures motor disorders and happy
demeanors
Then while vacationing in Italy he observed an
oil painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at
the Castelvecchio museum in Verona
Reminded of the children Dr Angelman
published a paper in 1965 that described what
he called ldquopuppet childrenrdquo At this time his
paper was not immediately recognized as
important
It wasnrsquot until 1982 when Charles A Williams
and Jaime L Frias of the department of
Pediatrics Division of Genetics University of
Florida College of Medicine Gainesville
submitted a paper to the American Journal of
Medical Genetics reporting studies of six
patients and comparing their data to those from
previous reports - severe developmental delay
ldquopuppet-likerdquo gait craniofacial abnormalities
and frequent episodes of laughter that it became
clear the syndrome was more common than
previously thought They proposed the name of
this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
How to Gather Emergency Supplies
When Hurricane Sandy hit the East coat in
2012 we lost electric power for 5 days and
were under a curfew for a week with limited
access to our regular food sources of supply
My son Max celebrated his 11 birthday with
candles a lot of candles Candles were the
main source of light in our kitchen We have a
generator and we used it most of the day to
recharge our laptop phone and fridge and to
keep our furnace going
We had known for days that our area would be
on the stormrsquos path We were not particularly
concerned by the flooding because we are
located on a hill but we knew we might lose
power and we did
It made me realize how quickly life can
change and disaster can strike Sandy did not
affect us too much Max was safe in our house
and I had enough food stored for him Still I
became aware of how unprepared I was to
cope with the needs of a child like Max if
things had been worse What if we had had to
evacuate Would I have had time to pack
everything I needed for him his rescue
medication his food his clothes and diapers
In the middle of a crisis would I have
remembered everything I needed to take
along
I decided I had to learn what it would take
for me to be prepared Here is what I have
discovered and would like to share with
you
Our angels are extremely sensitive to stress
a new situation new environment and a
new routine can be challenging If we had
to evacuate for any reason it would be
quick with no warning and most likely in a
panic mode
As a result Max would be exposed to a
different environment to noise and light in
a shelter and to new people Most likely he
would also become sleep deprived and I
would not be able to prepare his usual
meals and follow his special diet All theses
factors can trigger seizures as we know
Most of the time when a hurricane or a
snowstorm hits you will receive a warning
But if an unpredictable natural or man-
made disaster strikes you will have no time
to plan and you will have to leave
Every situation is different and each child
may have different and very specific needs
but here is a list of basic things you will
need and a list of websites where you can
get information to help you be better
prepared
Emergency preparedness for children with
specials needs following a therapeutic diet By Sybille Kraft Bellamy
Disaster Supplies Kit
A disaster supplies kit is a collection of basic items that could be needed in the event of a
disaster For our children with special needs we need very specific things
It is recommended to have the following
bull Medical alert tags or bracelets that identify the medical condition ie name of the
syndrome epilepsy allergies glucose dextrose intolerancehellip
bull A two-week medication supply ready for an eventual evacuation A prescription with the
patientrsquos name and his regular medication is also recommended
bull A portable bottle if your child is on O2
bull Copy of personal documents (list of medication list and any pertinent information)
bull Your child special cupbottle
bull Water one gallon per day 3-day supply 2-week supply for home
bull Non-perishable food 3-day supply for evacuation 2-week supply for home
bull Cans of coconut milkunsweetened condensed milkwhipping cream
bull Peanut butternuts buttercoconut oil
bull Individual electrolytes bagsbaby formulaketocal
bull Cans of tuna sardineslentilsbeans
bull Emergency sleeping bags
bull Emergency blanket
bull Can opener forkspoonmultipurpose tool
bull Flash light
bull DiaperwipesClorox wipes
bull Extra clothes
bull Charger for iPodsiPhone
For more information please visit
CDC Emergency Risk Communication Branch (ERCB)
Division of Emergency Operations (DEO)
Office of Public Heath Preparedness and Response (OPHPR)
The American Red Cross Get a survival kit
ldquo Are you ready An in-depth guide to citizen preparedness(Publication NoIS-22) (2004
August) Basic preparation pages 13-46
FEMA Are you ready Recovering from Disaster
FDA Registered 866-852-2337
Wersquore here to help
SleepSafe IIreg - Medium Bedwith Padding and IV Accessories
SleepSafereg - Low Bed
SleepSaferreg- High Bedoers the most safety protection with two removable safety rails
SleepSafereg Beds is domestic USA manufacturer of adaptable safety beds featuring removable safety side rails designed to virtually eliminate entrapment and falls for those with special needs The SleepSafereg bed line includes SleepSafereg SleepSafereg II and SleepSaferreg models each oering more safety rail to mattress height
SleepSafeBedcom
SleepSafe IIreg - Medium Bed in Multi-Color
SleepSaferreg- High Bedwith one safety rail removedand one safety rail rotated down
SleepSafe IIreg - Medium Bed in White
SleepSafereg Beds are built to each order oering twin or full size xed articulating or HiLo frames padding and a range of nishes SleepSafereg Beds
help those with special needs get a safe restful sleep ndash and smiles on the faces of their
caregivers who see their loved ones getting the sleep they deserve
History
Angelman Syndrome Belgium is an association
which was founded in 2011 by some parents who
have a child with the Angelman Syndrome
Aims
Our main goal is to reach the Belgium families
that have a child with the Angelman Syndrome
so we can share practical information support
each other and share as well up to date scientific
information
Activities
Yearly we organize a couple of events during
which we aim to provide a nice relaxing day for
the families Also brothers sisters and grandpa-
rents of the Angelman child are very welcome to
join on these days Our organization tries as
well to raise awareness of the angelman syndro-
me to physicians and caregivers Also scientific
research is supported by our association
FOLLOW US ON
Parents Organisation
A N G E L M A N S Y N D RO M E B E L G I U M
httpstwittercomangelmanSB httpswwwfacebookcomAngelmansyndroom wwwangelmansyndroombe Postangelmansyndroombe
Dads and Dudes with Angels By Charles De Broin from Montreal Quebec
Do we dads have it easy you say
That romantic night turns into a nine month wait for a
little miracle of life
Mom suddenly takes over and knows what to do
almost by instinct or is it the eighteen girlfriends and
her mom that make it all dizzily work
No sleep no more calm evenings to watch the game
on tv but all this is so much fun
They grow so fast and suddenly you realize
something is wrong
Mother panics dad comforts her to no avail
Doctors spin to find what it is that makes an otherwise
healthy baby not progress as the growth curve
indicates
ldquoGive it a while children grow at varying ratesrdquo the
good doctor says
Unsatisfied mom turns to every avenue and is told
that a genetic test might pinpoint the culprit that is
making our baby so different than her sister Helenrsquos
baby
The test is done and Angelman Syndrome is defined
as the source of our babyrsquos problem
The questions beginhellip ldquoWill he talk will he walk that
dream of him being a lawyer is still alive isnrsquot it will he
be able to play baseball or soccerrdquo Mom is
more rationalhellip ldquoIt doesnrsquot matter I will love him no
matter what just make those damned seizure stop
doctor pleaserdquo
The fear give way to advocacy mom is a spoke-person
for equal rights of the disabled in the school the
community and rattles parent teacher groups for
change in a system cold and oblivious to the less
fortunate Dad starts a foundation for latter years and
reluctantly accepts the defeat of not having the
brightest and strongest boy on the block
Before either of them know it their son is over 30 and
both mom and dad realize that the dream of having a
child in their lives forever has come true
He now lives in a group home but visits regularly at
home and yes mom and dad have a tag team
arrangement when their son still wakes up at 300
am ready to start his day They still visit the farm to
see his favorite horse and in the summer visit their little
country place where he can stare into a campfire and
giggle as mom and dad sing campfire song like when
he was a child
And this summerrsquos holiday spent with mom and dad
both tired and sleep deprived after a few short nights
Both looking at each other and speaking of enjoying
that unconditional lovehellip that hug at bed-time that
speaks so much of thanks and recognition
Words Of
Wisdom
Words Of Wisdom Parent Shared Experience
WHAT IS A MAPS DOCTOR
AND WHY SHOULD I HAVE ONE MAPS ndash Medical Academy of Pediatric Special Needs
Interview with Dr David Berger Wholistic Pediatrics and MAPS Physician
The Medical Academy of Pediatric Special Needs
is a group of professionals who offer a
Comprehensive Education and Fellowship to
Medical Professionals for the care of children
with Autism Spectrum Disorders and related
Chronic Complex Conditions Their mission is to
prepare medical professionals to deliver the best
possible care to children with ASD and other
special needs conditions Under the guidance of
Daniel Rossignol MD FAAFP this uniquely
designed scientific evidence-based course of
study is designed by clinicians for clinicians
MAPS Physicians are at the forefront of helping
families by thoroughly assessing and treating the
chronic conditions based on science and the needs
of each individual that can positively affect ones
quality of life
I recently had the privilege of catching up with
one of the busiest lecturing physicians of MAPS
Dr David Berger MD FAAP Dr David is a
board-certified pediatrician who specializes in
holistic pediatric primary care nutritional and
detoxification therapies
How can this approach help individuals with
Angelman Syndrome
Dr David ndash ldquoThe approach is an individualized
approach It is about Biochemistry and looking
into the body and treating the body as a whole
(The reason he named his practice Wholistic
Pediatrics and Family Care
wwwwholisticfamilycarecom) We are also
documenting that individuals with Down
Syndrome (also a genetic condition) are also
improving with Biomedical treatments so we
know that established genetics conditions can
benefit from theses treatmentsrdquo
helliphelliphelliphelliphelliphellip
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Dr David (as he is referred to by his patients) is
no stranger to Angelman Syndrome in fact he
has worked with Dr Jaime L Frias (from the
Department of Pediatrics Division of Genetics
University of Florida College of Medicine co-
author of the 1982 paper in the American
Journal of Medical Genetics on Angelman
Syndrome) he is also my son Nathanrsquos
Pediatrician
ldquoThe individualized approach is simple
Biochemistry Physiology and Anatomy
Providing practical solutions of treatment The
time spent with each patient is very important
A five minute consultation cannot treat a
patient effectively A complete evaluation is
necessary to find and correct the underlying
abnormalitiesrdquo
Many of the chronic conditions that
individuals with Angelman syndrome can be
treated for are Nutritional deficiencies
metabolic deficiencies Mitochondria
dysfunction Methylation problems
inflammation Constipationdiarrhea illness
ear infections allergies sleep disorders
seizures and more The ability to truly get
individuals healthy is what I have found with
you and MAPS Doctors These are
treatments that can be done today
ldquoYes you have just described my overall career
and the chronic conditions we treat whether it is
individuals with Autism Down Syndrome or
Angelman Syndrome The path to healing is
like a marathon I explain to my patients it is
not a sprint It is a steady process much like
lifting up the hood of a car and checking the
engine We must look inside the individual and
evaluate the intestinal track food digestion
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
The Holiday Season is upon us
lsquoTis the season for giving thanks and celebrating with friends and
family Time for office parties dinner parties and time to take-
out- the- good- dishes parties
I will began by thanking everyone who has helped create and
support Angelman Today Thanks to all of the readers that have
reached out and expressed your appreciation for having such a
wonderful new resource
I know that it is from the bottom of our hearts that we work so
hard to help bring the global community together and share our
experiences As parents we work on Angelman Today in between
caring for our Angels - which you know is a task-and-a- half - and
caring for our families andor working at other jobs The
Professionals of our medical and scientific advisory board
generously give of their limited time to write and send in articles
comments and quotes
I am so very grateful for the health of my family especially
Nathan who is doing amazingly well thanks to our MAPS
physicians I am thankful to every organization and community
member that has joined Angelman Today and shares the vision of
uniting a global community sharing resources information and
helping to improve the daily lives of individuals with Angelman
Syndrome everywhere I am truly amazed how quickly things are
happening and how Angelman Today is already reaching into
more than 40 countries and territories
I wish you all a very happy and healthy holiday season with close
friends and family and the friends that ARE family
Warm Wishes
Lizzie Sordia
Editor - in - Chief
EDITORrsquoS LETTER
Mosaicism in Angelman Syndromehellip6
By Dr Charles A Williams
The History of Angelman Syndromehellip7
Emergency Preparednesshelliphelliphelliphelliphellip9
Words of Wisdomhelliphelliphelliphelliphelliphelliphelliphellip13
What is a MAPS Dr
Interview with Dr David Bergerhelliphellip14
Christmas Gift Ideashelliphelliphelliphelliphelliphelliphellip17
Little Keeper Sleepershelliphelliphelliphelliphelliphellip19
LGIT (Low Glycemic Index Treatment)
Sweet Treat for the Holiday Season
by Sybille Kraft Bellamyhelliphelliphelliphelliphellip21
Managing Holiday Stresshelliphelliphelliphelliphellip24
by Eileen Braun
A Fatherrsquos View ndash By Peter Krafthelliphellip32
Angels in Action ndash Francoisehelliphelliphellip38
Clinical Trial for Seizures in
Children Using Cannabishelliphelliphelliphelliphellip39
Whatrsquos inside
Angelman and Associated
Foundations
Syndrome Angelman France hellip4
Casa Angelman Argentinahelliphelliphellip8
Angelman Syndrome Belgiumhellip12
THERAsurfhelliphelliphelliphelliphelliphelliphelliphelliphellip16
The Angelman Syndrome
Foundationhelliphelliphelliphelliphelliphelliphelliphelliphellip22
Angelman Syndrome
Association Spainhelliphelliphelliphelliphelliphellip28
The Angelman Network ndash New
Zealandhelliphelliphelliphelliphelliphelliphelliphelliphelliphellip31
Israeli Angelman Syndrome
Foundationhelliphelliphelliphelliphelliphelliphelliphelliphellip34
The Charlie Foundationhelliphelliphellip35
FASThelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip40
Cannabidiol (CBD)
clinical trial to begin 21 19
7 6
39
17
Cover
Nathan Sordia
5 yrs old AS
Syndrome Angelman France is an association created
nationally for those families and friends of people who have
the care of SAF The administration of SAF is composed of
families as well as professionals from the medical
paramedical and medico-social world The functioning of
SAF is totally assured by voluntary workers
What does the SAF Association propose
- Enchance the expertise of parents in organizing and
facilitating the dissemination of information and sharing
experiences This is why a website magazine has been
created and managed ( wwwsyndromeangelman-franceorg
) This site is interactive collaborative and has a regular
and consistent link with families spread over the five
continents
- Be a resource center for families having someone with this
disability in society
- Deepen reflection on their own disability of mental
handicap and thus contribute to others a view on this
difference
- Publicize the Angelman syndrome
- Encourage and help the research by informing and
sensibilizing medical paramedical social and medico-
social groups on traditional and innovative educational
methods adapted to the Angelman syndrome
- Cooperate by exchanges with other regional and national
associations who have the same values and objectives
Two SAF actions
- Inventory of individuals with Angelman syndrome
- Find the results of our investigation on the website
httpwww syndromeangelman-franceorgwp-
contentuploadsSurvey-Angelman-Adult-2013-Francepdf
Syndrome Angelman France wwwsyndromeangelman-franceorg
wwwfacebookcomSyndromeAngelmanFrance
A BOOK TO READ ldquoAngelman Syndrome - A look on
a rare neurogenetic diseaserdquo
This book is published by Editions
H prefaced by Professor DAN and
written by Anne Castle Anne is the
mother of a young adult Angelman
and Vice-president of the
Syndrome Angelman France
association
Collection Sciences et Socieacuteteacute ndash
Editions LrsquoHarmattan
BUY TODAY WITH THIS LINK
A lire Le SA Regard sur une
maladie neurogeacuteneacutetique rare un
livre publieacute aux eacuteditions H preacutefaceacute
par le Pr DAN et eacutecrit par Anne
Chacircteau maman drsquoun jeune adulte
A et Vice-preacutesidente de
lrsquoassociation SAF
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Thank You
A Big Thanks to all of the contributors that help
bring you Angelman Today
All of the Angelman
and Associated
Foundations
across the globe
Dr Charles Williams of University of Florida
Dr Elizabeth Thiele of Mass General
Dr David Berger of Wholistic Pediatrics
Contributors
Angelman Today Supporters
Sleep Safe Beds - wwwsleepsafebedcom
Little Keepers Sleepers ndash
wwwlittlekeepersleeperscom
MediPal ndash wwwmedipalcom
Sybille Kraft Bellamy
Peter Kraft
Charles De Broin
Eileen Braun
Anne Chateau
Karray Shwartz Cox
In the last edition I reviewed
the four genetic mechanisms
that can disrupt the Angelman
syndrome (AS) gene
chromosome deletion
imprinting defect mutation in
UBE3A and paternal
uniparental disomy When an
individual with AS has one of
these defects it is typically
present in every cell of the
body since the defect existed at
the time of conception when the
sperm and egg fused to form
the first cell of the embryo All
of the subsequent cells are thus
derived from this original cell
It is possible in rare situations
however for the AS defect to
occur after the first cell
divisions of the embryo such
that there is a normal and an
abnormal cell line the general
term for this phenomenon is
cell mosaicism
Mosaicism in an individual
with AS means that a few cells
in their body (and also in their
brain) are normal These
normal cells coexist with all of
the other cells that have the AS
defect Mosaicism in AS most
often occurs in imprinting
defects that do not involve
deletions of the imprinting
center (the great majority of
those with imprinting defects
are of this non-deletion type)
About 10 to 30 of individuals
with the non-deletion type may
have a small percent of their
cells that are normal
without the typical 15q112-q13
deletion For example 80 of the
cells in the blood may have the
typical AS deletion while 20 of
the cells are normal The same can
theoretically occur for those with
AS due to uniparental disomy To
my knowledge mosaicism for
UBE3A mutation identified by
blood study in an individual with
AS has not been reported but that
is also theoretically possible
In a mother who has an AS child
with a UBE3A mutation
mosaicism involving UBE3A has
been detected in her in what is
termed germline mosaicism
Here the mothers blood cells are
normal but apparently in her
ovaries there are egg (eg germ)
cells that have the UBE3A
mutation This situation is
presumed to be present for
example when the mother gives
birth to two subsequent children
with AS each having the same
UBE3A mutation but studies of
the mothers blood are completely
normal The diagram illustrates
this type of germline mosaicism
(blue cells are the normal cells) and
contrasts it to the other type of
mosaicism that is discussed above
termed ldquoconstitutionalrdquo meaning
that cells throughout the body are
involved
Understanding mosaicism in AS
can be complicated especially
when considering the possibility of
germline mosaicism in mothers
since this rare condition can lead to
recurrence of AS among siblings
We detect evidence of this by the
DNA methylation test that is
performed on blood When the test
suggests mosaicism we presume
(but do not really know) that cells
in the brain also have a similar
percentage of normal cells In
instances of imprinting mosaicism
the percent of normal cells is
usually less than 20 Individuals
with AS who are imprinting-type
mosaics can have relatively higher
developmental ability Some have
been noted to speak words and
even to put words together more
than is seen in the typical child
with AS who is non-mosaic They
may also have better motor ability
(eg almost normal walking) and
relatively higher cognitive skills
The three other mechanisms that
cause AS are much less likely to
have mosaicism but a few rare
instances have been reported
Chromosome studies (either
molecular or FISH-type) may
identify a small percent of cells
By Dr Charles A Williams
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician
who identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England
He was an enthusiast for the language and
country of Italy
He first observed three children who were
unrelated but showed similar symptoms of
severe intellectual delay stiff jerky gait lack of
speech seizures motor disorders and happy
demeanors
Then while vacationing in Italy he observed an
oil painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at
the Castelvecchio museum in Verona
Reminded of the children Dr Angelman
published a paper in 1965 that described what
he called ldquopuppet childrenrdquo At this time his
paper was not immediately recognized as
important
It wasnrsquot until 1982 when Charles A Williams
and Jaime L Frias of the department of
Pediatrics Division of Genetics University of
Florida College of Medicine Gainesville
submitted a paper to the American Journal of
Medical Genetics reporting studies of six
patients and comparing their data to those from
previous reports - severe developmental delay
ldquopuppet-likerdquo gait craniofacial abnormalities
and frequent episodes of laughter that it became
clear the syndrome was more common than
previously thought They proposed the name of
this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
How to Gather Emergency Supplies
When Hurricane Sandy hit the East coat in
2012 we lost electric power for 5 days and
were under a curfew for a week with limited
access to our regular food sources of supply
My son Max celebrated his 11 birthday with
candles a lot of candles Candles were the
main source of light in our kitchen We have a
generator and we used it most of the day to
recharge our laptop phone and fridge and to
keep our furnace going
We had known for days that our area would be
on the stormrsquos path We were not particularly
concerned by the flooding because we are
located on a hill but we knew we might lose
power and we did
It made me realize how quickly life can
change and disaster can strike Sandy did not
affect us too much Max was safe in our house
and I had enough food stored for him Still I
became aware of how unprepared I was to
cope with the needs of a child like Max if
things had been worse What if we had had to
evacuate Would I have had time to pack
everything I needed for him his rescue
medication his food his clothes and diapers
In the middle of a crisis would I have
remembered everything I needed to take
along
I decided I had to learn what it would take
for me to be prepared Here is what I have
discovered and would like to share with
you
Our angels are extremely sensitive to stress
a new situation new environment and a
new routine can be challenging If we had
to evacuate for any reason it would be
quick with no warning and most likely in a
panic mode
As a result Max would be exposed to a
different environment to noise and light in
a shelter and to new people Most likely he
would also become sleep deprived and I
would not be able to prepare his usual
meals and follow his special diet All theses
factors can trigger seizures as we know
Most of the time when a hurricane or a
snowstorm hits you will receive a warning
But if an unpredictable natural or man-
made disaster strikes you will have no time
to plan and you will have to leave
Every situation is different and each child
may have different and very specific needs
but here is a list of basic things you will
need and a list of websites where you can
get information to help you be better
prepared
Emergency preparedness for children with
specials needs following a therapeutic diet By Sybille Kraft Bellamy
Disaster Supplies Kit
A disaster supplies kit is a collection of basic items that could be needed in the event of a
disaster For our children with special needs we need very specific things
It is recommended to have the following
bull Medical alert tags or bracelets that identify the medical condition ie name of the
syndrome epilepsy allergies glucose dextrose intolerancehellip
bull A two-week medication supply ready for an eventual evacuation A prescription with the
patientrsquos name and his regular medication is also recommended
bull A portable bottle if your child is on O2
bull Copy of personal documents (list of medication list and any pertinent information)
bull Your child special cupbottle
bull Water one gallon per day 3-day supply 2-week supply for home
bull Non-perishable food 3-day supply for evacuation 2-week supply for home
bull Cans of coconut milkunsweetened condensed milkwhipping cream
bull Peanut butternuts buttercoconut oil
bull Individual electrolytes bagsbaby formulaketocal
bull Cans of tuna sardineslentilsbeans
bull Emergency sleeping bags
bull Emergency blanket
bull Can opener forkspoonmultipurpose tool
bull Flash light
bull DiaperwipesClorox wipes
bull Extra clothes
bull Charger for iPodsiPhone
For more information please visit
CDC Emergency Risk Communication Branch (ERCB)
Division of Emergency Operations (DEO)
Office of Public Heath Preparedness and Response (OPHPR)
The American Red Cross Get a survival kit
ldquo Are you ready An in-depth guide to citizen preparedness(Publication NoIS-22) (2004
August) Basic preparation pages 13-46
FEMA Are you ready Recovering from Disaster
FDA Registered 866-852-2337
Wersquore here to help
SleepSafe IIreg - Medium Bedwith Padding and IV Accessories
SleepSafereg - Low Bed
SleepSaferreg- High Bedoers the most safety protection with two removable safety rails
SleepSafereg Beds is domestic USA manufacturer of adaptable safety beds featuring removable safety side rails designed to virtually eliminate entrapment and falls for those with special needs The SleepSafereg bed line includes SleepSafereg SleepSafereg II and SleepSaferreg models each oering more safety rail to mattress height
SleepSafeBedcom
SleepSafe IIreg - Medium Bed in Multi-Color
SleepSaferreg- High Bedwith one safety rail removedand one safety rail rotated down
SleepSafe IIreg - Medium Bed in White
SleepSafereg Beds are built to each order oering twin or full size xed articulating or HiLo frames padding and a range of nishes SleepSafereg Beds
help those with special needs get a safe restful sleep ndash and smiles on the faces of their
caregivers who see their loved ones getting the sleep they deserve
History
Angelman Syndrome Belgium is an association
which was founded in 2011 by some parents who
have a child with the Angelman Syndrome
Aims
Our main goal is to reach the Belgium families
that have a child with the Angelman Syndrome
so we can share practical information support
each other and share as well up to date scientific
information
Activities
Yearly we organize a couple of events during
which we aim to provide a nice relaxing day for
the families Also brothers sisters and grandpa-
rents of the Angelman child are very welcome to
join on these days Our organization tries as
well to raise awareness of the angelman syndro-
me to physicians and caregivers Also scientific
research is supported by our association
FOLLOW US ON
Parents Organisation
A N G E L M A N S Y N D RO M E B E L G I U M
httpstwittercomangelmanSB httpswwwfacebookcomAngelmansyndroom wwwangelmansyndroombe Postangelmansyndroombe
Dads and Dudes with Angels By Charles De Broin from Montreal Quebec
Do we dads have it easy you say
That romantic night turns into a nine month wait for a
little miracle of life
Mom suddenly takes over and knows what to do
almost by instinct or is it the eighteen girlfriends and
her mom that make it all dizzily work
No sleep no more calm evenings to watch the game
on tv but all this is so much fun
They grow so fast and suddenly you realize
something is wrong
Mother panics dad comforts her to no avail
Doctors spin to find what it is that makes an otherwise
healthy baby not progress as the growth curve
indicates
ldquoGive it a while children grow at varying ratesrdquo the
good doctor says
Unsatisfied mom turns to every avenue and is told
that a genetic test might pinpoint the culprit that is
making our baby so different than her sister Helenrsquos
baby
The test is done and Angelman Syndrome is defined
as the source of our babyrsquos problem
The questions beginhellip ldquoWill he talk will he walk that
dream of him being a lawyer is still alive isnrsquot it will he
be able to play baseball or soccerrdquo Mom is
more rationalhellip ldquoIt doesnrsquot matter I will love him no
matter what just make those damned seizure stop
doctor pleaserdquo
The fear give way to advocacy mom is a spoke-person
for equal rights of the disabled in the school the
community and rattles parent teacher groups for
change in a system cold and oblivious to the less
fortunate Dad starts a foundation for latter years and
reluctantly accepts the defeat of not having the
brightest and strongest boy on the block
Before either of them know it their son is over 30 and
both mom and dad realize that the dream of having a
child in their lives forever has come true
He now lives in a group home but visits regularly at
home and yes mom and dad have a tag team
arrangement when their son still wakes up at 300
am ready to start his day They still visit the farm to
see his favorite horse and in the summer visit their little
country place where he can stare into a campfire and
giggle as mom and dad sing campfire song like when
he was a child
And this summerrsquos holiday spent with mom and dad
both tired and sleep deprived after a few short nights
Both looking at each other and speaking of enjoying
that unconditional lovehellip that hug at bed-time that
speaks so much of thanks and recognition
Words Of
Wisdom
Words Of Wisdom Parent Shared Experience
WHAT IS A MAPS DOCTOR
AND WHY SHOULD I HAVE ONE MAPS ndash Medical Academy of Pediatric Special Needs
Interview with Dr David Berger Wholistic Pediatrics and MAPS Physician
The Medical Academy of Pediatric Special Needs
is a group of professionals who offer a
Comprehensive Education and Fellowship to
Medical Professionals for the care of children
with Autism Spectrum Disorders and related
Chronic Complex Conditions Their mission is to
prepare medical professionals to deliver the best
possible care to children with ASD and other
special needs conditions Under the guidance of
Daniel Rossignol MD FAAFP this uniquely
designed scientific evidence-based course of
study is designed by clinicians for clinicians
MAPS Physicians are at the forefront of helping
families by thoroughly assessing and treating the
chronic conditions based on science and the needs
of each individual that can positively affect ones
quality of life
I recently had the privilege of catching up with
one of the busiest lecturing physicians of MAPS
Dr David Berger MD FAAP Dr David is a
board-certified pediatrician who specializes in
holistic pediatric primary care nutritional and
detoxification therapies
How can this approach help individuals with
Angelman Syndrome
Dr David ndash ldquoThe approach is an individualized
approach It is about Biochemistry and looking
into the body and treating the body as a whole
(The reason he named his practice Wholistic
Pediatrics and Family Care
wwwwholisticfamilycarecom) We are also
documenting that individuals with Down
Syndrome (also a genetic condition) are also
improving with Biomedical treatments so we
know that established genetics conditions can
benefit from theses treatmentsrdquo
helliphelliphelliphelliphelliphellip
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Dr David (as he is referred to by his patients) is
no stranger to Angelman Syndrome in fact he
has worked with Dr Jaime L Frias (from the
Department of Pediatrics Division of Genetics
University of Florida College of Medicine co-
author of the 1982 paper in the American
Journal of Medical Genetics on Angelman
Syndrome) he is also my son Nathanrsquos
Pediatrician
ldquoThe individualized approach is simple
Biochemistry Physiology and Anatomy
Providing practical solutions of treatment The
time spent with each patient is very important
A five minute consultation cannot treat a
patient effectively A complete evaluation is
necessary to find and correct the underlying
abnormalitiesrdquo
Many of the chronic conditions that
individuals with Angelman syndrome can be
treated for are Nutritional deficiencies
metabolic deficiencies Mitochondria
dysfunction Methylation problems
inflammation Constipationdiarrhea illness
ear infections allergies sleep disorders
seizures and more The ability to truly get
individuals healthy is what I have found with
you and MAPS Doctors These are
treatments that can be done today
ldquoYes you have just described my overall career
and the chronic conditions we treat whether it is
individuals with Autism Down Syndrome or
Angelman Syndrome The path to healing is
like a marathon I explain to my patients it is
not a sprint It is a steady process much like
lifting up the hood of a car and checking the
engine We must look inside the individual and
evaluate the intestinal track food digestion
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Mosaicism in Angelman Syndromehellip6
By Dr Charles A Williams
The History of Angelman Syndromehellip7
Emergency Preparednesshelliphelliphelliphelliphellip9
Words of Wisdomhelliphelliphelliphelliphelliphelliphelliphellip13
What is a MAPS Dr
Interview with Dr David Bergerhelliphellip14
Christmas Gift Ideashelliphelliphelliphelliphelliphelliphellip17
Little Keeper Sleepershelliphelliphelliphelliphelliphellip19
LGIT (Low Glycemic Index Treatment)
Sweet Treat for the Holiday Season
by Sybille Kraft Bellamyhelliphelliphelliphelliphellip21
Managing Holiday Stresshelliphelliphelliphelliphellip24
by Eileen Braun
A Fatherrsquos View ndash By Peter Krafthelliphellip32
Angels in Action ndash Francoisehelliphelliphellip38
Clinical Trial for Seizures in
Children Using Cannabishelliphelliphelliphelliphellip39
Whatrsquos inside
Angelman and Associated
Foundations
Syndrome Angelman France hellip4
Casa Angelman Argentinahelliphelliphellip8
Angelman Syndrome Belgiumhellip12
THERAsurfhelliphelliphelliphelliphelliphelliphelliphelliphellip16
The Angelman Syndrome
Foundationhelliphelliphelliphelliphelliphelliphelliphelliphellip22
Angelman Syndrome
Association Spainhelliphelliphelliphelliphelliphellip28
The Angelman Network ndash New
Zealandhelliphelliphelliphelliphelliphelliphelliphelliphelliphellip31
Israeli Angelman Syndrome
Foundationhelliphelliphelliphelliphelliphelliphelliphelliphellip34
The Charlie Foundationhelliphelliphellip35
FASThelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip40
Cannabidiol (CBD)
clinical trial to begin 21 19
7 6
39
17
Cover
Nathan Sordia
5 yrs old AS
Syndrome Angelman France is an association created
nationally for those families and friends of people who have
the care of SAF The administration of SAF is composed of
families as well as professionals from the medical
paramedical and medico-social world The functioning of
SAF is totally assured by voluntary workers
What does the SAF Association propose
- Enchance the expertise of parents in organizing and
facilitating the dissemination of information and sharing
experiences This is why a website magazine has been
created and managed ( wwwsyndromeangelman-franceorg
) This site is interactive collaborative and has a regular
and consistent link with families spread over the five
continents
- Be a resource center for families having someone with this
disability in society
- Deepen reflection on their own disability of mental
handicap and thus contribute to others a view on this
difference
- Publicize the Angelman syndrome
- Encourage and help the research by informing and
sensibilizing medical paramedical social and medico-
social groups on traditional and innovative educational
methods adapted to the Angelman syndrome
- Cooperate by exchanges with other regional and national
associations who have the same values and objectives
Two SAF actions
- Inventory of individuals with Angelman syndrome
- Find the results of our investigation on the website
httpwww syndromeangelman-franceorgwp-
contentuploadsSurvey-Angelman-Adult-2013-Francepdf
Syndrome Angelman France wwwsyndromeangelman-franceorg
wwwfacebookcomSyndromeAngelmanFrance
A BOOK TO READ ldquoAngelman Syndrome - A look on
a rare neurogenetic diseaserdquo
This book is published by Editions
H prefaced by Professor DAN and
written by Anne Castle Anne is the
mother of a young adult Angelman
and Vice-president of the
Syndrome Angelman France
association
Collection Sciences et Socieacuteteacute ndash
Editions LrsquoHarmattan
BUY TODAY WITH THIS LINK
A lire Le SA Regard sur une
maladie neurogeacuteneacutetique rare un
livre publieacute aux eacuteditions H preacutefaceacute
par le Pr DAN et eacutecrit par Anne
Chacircteau maman drsquoun jeune adulte
A et Vice-preacutesidente de
lrsquoassociation SAF
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Thank You
A Big Thanks to all of the contributors that help
bring you Angelman Today
All of the Angelman
and Associated
Foundations
across the globe
Dr Charles Williams of University of Florida
Dr Elizabeth Thiele of Mass General
Dr David Berger of Wholistic Pediatrics
Contributors
Angelman Today Supporters
Sleep Safe Beds - wwwsleepsafebedcom
Little Keepers Sleepers ndash
wwwlittlekeepersleeperscom
MediPal ndash wwwmedipalcom
Sybille Kraft Bellamy
Peter Kraft
Charles De Broin
Eileen Braun
Anne Chateau
Karray Shwartz Cox
In the last edition I reviewed
the four genetic mechanisms
that can disrupt the Angelman
syndrome (AS) gene
chromosome deletion
imprinting defect mutation in
UBE3A and paternal
uniparental disomy When an
individual with AS has one of
these defects it is typically
present in every cell of the
body since the defect existed at
the time of conception when the
sperm and egg fused to form
the first cell of the embryo All
of the subsequent cells are thus
derived from this original cell
It is possible in rare situations
however for the AS defect to
occur after the first cell
divisions of the embryo such
that there is a normal and an
abnormal cell line the general
term for this phenomenon is
cell mosaicism
Mosaicism in an individual
with AS means that a few cells
in their body (and also in their
brain) are normal These
normal cells coexist with all of
the other cells that have the AS
defect Mosaicism in AS most
often occurs in imprinting
defects that do not involve
deletions of the imprinting
center (the great majority of
those with imprinting defects
are of this non-deletion type)
About 10 to 30 of individuals
with the non-deletion type may
have a small percent of their
cells that are normal
without the typical 15q112-q13
deletion For example 80 of the
cells in the blood may have the
typical AS deletion while 20 of
the cells are normal The same can
theoretically occur for those with
AS due to uniparental disomy To
my knowledge mosaicism for
UBE3A mutation identified by
blood study in an individual with
AS has not been reported but that
is also theoretically possible
In a mother who has an AS child
with a UBE3A mutation
mosaicism involving UBE3A has
been detected in her in what is
termed germline mosaicism
Here the mothers blood cells are
normal but apparently in her
ovaries there are egg (eg germ)
cells that have the UBE3A
mutation This situation is
presumed to be present for
example when the mother gives
birth to two subsequent children
with AS each having the same
UBE3A mutation but studies of
the mothers blood are completely
normal The diagram illustrates
this type of germline mosaicism
(blue cells are the normal cells) and
contrasts it to the other type of
mosaicism that is discussed above
termed ldquoconstitutionalrdquo meaning
that cells throughout the body are
involved
Understanding mosaicism in AS
can be complicated especially
when considering the possibility of
germline mosaicism in mothers
since this rare condition can lead to
recurrence of AS among siblings
We detect evidence of this by the
DNA methylation test that is
performed on blood When the test
suggests mosaicism we presume
(but do not really know) that cells
in the brain also have a similar
percentage of normal cells In
instances of imprinting mosaicism
the percent of normal cells is
usually less than 20 Individuals
with AS who are imprinting-type
mosaics can have relatively higher
developmental ability Some have
been noted to speak words and
even to put words together more
than is seen in the typical child
with AS who is non-mosaic They
may also have better motor ability
(eg almost normal walking) and
relatively higher cognitive skills
The three other mechanisms that
cause AS are much less likely to
have mosaicism but a few rare
instances have been reported
Chromosome studies (either
molecular or FISH-type) may
identify a small percent of cells
By Dr Charles A Williams
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician
who identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England
He was an enthusiast for the language and
country of Italy
He first observed three children who were
unrelated but showed similar symptoms of
severe intellectual delay stiff jerky gait lack of
speech seizures motor disorders and happy
demeanors
Then while vacationing in Italy he observed an
oil painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at
the Castelvecchio museum in Verona
Reminded of the children Dr Angelman
published a paper in 1965 that described what
he called ldquopuppet childrenrdquo At this time his
paper was not immediately recognized as
important
It wasnrsquot until 1982 when Charles A Williams
and Jaime L Frias of the department of
Pediatrics Division of Genetics University of
Florida College of Medicine Gainesville
submitted a paper to the American Journal of
Medical Genetics reporting studies of six
patients and comparing their data to those from
previous reports - severe developmental delay
ldquopuppet-likerdquo gait craniofacial abnormalities
and frequent episodes of laughter that it became
clear the syndrome was more common than
previously thought They proposed the name of
this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
How to Gather Emergency Supplies
When Hurricane Sandy hit the East coat in
2012 we lost electric power for 5 days and
were under a curfew for a week with limited
access to our regular food sources of supply
My son Max celebrated his 11 birthday with
candles a lot of candles Candles were the
main source of light in our kitchen We have a
generator and we used it most of the day to
recharge our laptop phone and fridge and to
keep our furnace going
We had known for days that our area would be
on the stormrsquos path We were not particularly
concerned by the flooding because we are
located on a hill but we knew we might lose
power and we did
It made me realize how quickly life can
change and disaster can strike Sandy did not
affect us too much Max was safe in our house
and I had enough food stored for him Still I
became aware of how unprepared I was to
cope with the needs of a child like Max if
things had been worse What if we had had to
evacuate Would I have had time to pack
everything I needed for him his rescue
medication his food his clothes and diapers
In the middle of a crisis would I have
remembered everything I needed to take
along
I decided I had to learn what it would take
for me to be prepared Here is what I have
discovered and would like to share with
you
Our angels are extremely sensitive to stress
a new situation new environment and a
new routine can be challenging If we had
to evacuate for any reason it would be
quick with no warning and most likely in a
panic mode
As a result Max would be exposed to a
different environment to noise and light in
a shelter and to new people Most likely he
would also become sleep deprived and I
would not be able to prepare his usual
meals and follow his special diet All theses
factors can trigger seizures as we know
Most of the time when a hurricane or a
snowstorm hits you will receive a warning
But if an unpredictable natural or man-
made disaster strikes you will have no time
to plan and you will have to leave
Every situation is different and each child
may have different and very specific needs
but here is a list of basic things you will
need and a list of websites where you can
get information to help you be better
prepared
Emergency preparedness for children with
specials needs following a therapeutic diet By Sybille Kraft Bellamy
Disaster Supplies Kit
A disaster supplies kit is a collection of basic items that could be needed in the event of a
disaster For our children with special needs we need very specific things
It is recommended to have the following
bull Medical alert tags or bracelets that identify the medical condition ie name of the
syndrome epilepsy allergies glucose dextrose intolerancehellip
bull A two-week medication supply ready for an eventual evacuation A prescription with the
patientrsquos name and his regular medication is also recommended
bull A portable bottle if your child is on O2
bull Copy of personal documents (list of medication list and any pertinent information)
bull Your child special cupbottle
bull Water one gallon per day 3-day supply 2-week supply for home
bull Non-perishable food 3-day supply for evacuation 2-week supply for home
bull Cans of coconut milkunsweetened condensed milkwhipping cream
bull Peanut butternuts buttercoconut oil
bull Individual electrolytes bagsbaby formulaketocal
bull Cans of tuna sardineslentilsbeans
bull Emergency sleeping bags
bull Emergency blanket
bull Can opener forkspoonmultipurpose tool
bull Flash light
bull DiaperwipesClorox wipes
bull Extra clothes
bull Charger for iPodsiPhone
For more information please visit
CDC Emergency Risk Communication Branch (ERCB)
Division of Emergency Operations (DEO)
Office of Public Heath Preparedness and Response (OPHPR)
The American Red Cross Get a survival kit
ldquo Are you ready An in-depth guide to citizen preparedness(Publication NoIS-22) (2004
August) Basic preparation pages 13-46
FEMA Are you ready Recovering from Disaster
FDA Registered 866-852-2337
Wersquore here to help
SleepSafe IIreg - Medium Bedwith Padding and IV Accessories
SleepSafereg - Low Bed
SleepSaferreg- High Bedoers the most safety protection with two removable safety rails
SleepSafereg Beds is domestic USA manufacturer of adaptable safety beds featuring removable safety side rails designed to virtually eliminate entrapment and falls for those with special needs The SleepSafereg bed line includes SleepSafereg SleepSafereg II and SleepSaferreg models each oering more safety rail to mattress height
SleepSafeBedcom
SleepSafe IIreg - Medium Bed in Multi-Color
SleepSaferreg- High Bedwith one safety rail removedand one safety rail rotated down
SleepSafe IIreg - Medium Bed in White
SleepSafereg Beds are built to each order oering twin or full size xed articulating or HiLo frames padding and a range of nishes SleepSafereg Beds
help those with special needs get a safe restful sleep ndash and smiles on the faces of their
caregivers who see their loved ones getting the sleep they deserve
History
Angelman Syndrome Belgium is an association
which was founded in 2011 by some parents who
have a child with the Angelman Syndrome
Aims
Our main goal is to reach the Belgium families
that have a child with the Angelman Syndrome
so we can share practical information support
each other and share as well up to date scientific
information
Activities
Yearly we organize a couple of events during
which we aim to provide a nice relaxing day for
the families Also brothers sisters and grandpa-
rents of the Angelman child are very welcome to
join on these days Our organization tries as
well to raise awareness of the angelman syndro-
me to physicians and caregivers Also scientific
research is supported by our association
FOLLOW US ON
Parents Organisation
A N G E L M A N S Y N D RO M E B E L G I U M
httpstwittercomangelmanSB httpswwwfacebookcomAngelmansyndroom wwwangelmansyndroombe Postangelmansyndroombe
Dads and Dudes with Angels By Charles De Broin from Montreal Quebec
Do we dads have it easy you say
That romantic night turns into a nine month wait for a
little miracle of life
Mom suddenly takes over and knows what to do
almost by instinct or is it the eighteen girlfriends and
her mom that make it all dizzily work
No sleep no more calm evenings to watch the game
on tv but all this is so much fun
They grow so fast and suddenly you realize
something is wrong
Mother panics dad comforts her to no avail
Doctors spin to find what it is that makes an otherwise
healthy baby not progress as the growth curve
indicates
ldquoGive it a while children grow at varying ratesrdquo the
good doctor says
Unsatisfied mom turns to every avenue and is told
that a genetic test might pinpoint the culprit that is
making our baby so different than her sister Helenrsquos
baby
The test is done and Angelman Syndrome is defined
as the source of our babyrsquos problem
The questions beginhellip ldquoWill he talk will he walk that
dream of him being a lawyer is still alive isnrsquot it will he
be able to play baseball or soccerrdquo Mom is
more rationalhellip ldquoIt doesnrsquot matter I will love him no
matter what just make those damned seizure stop
doctor pleaserdquo
The fear give way to advocacy mom is a spoke-person
for equal rights of the disabled in the school the
community and rattles parent teacher groups for
change in a system cold and oblivious to the less
fortunate Dad starts a foundation for latter years and
reluctantly accepts the defeat of not having the
brightest and strongest boy on the block
Before either of them know it their son is over 30 and
both mom and dad realize that the dream of having a
child in their lives forever has come true
He now lives in a group home but visits regularly at
home and yes mom and dad have a tag team
arrangement when their son still wakes up at 300
am ready to start his day They still visit the farm to
see his favorite horse and in the summer visit their little
country place where he can stare into a campfire and
giggle as mom and dad sing campfire song like when
he was a child
And this summerrsquos holiday spent with mom and dad
both tired and sleep deprived after a few short nights
Both looking at each other and speaking of enjoying
that unconditional lovehellip that hug at bed-time that
speaks so much of thanks and recognition
Words Of
Wisdom
Words Of Wisdom Parent Shared Experience
WHAT IS A MAPS DOCTOR
AND WHY SHOULD I HAVE ONE MAPS ndash Medical Academy of Pediatric Special Needs
Interview with Dr David Berger Wholistic Pediatrics and MAPS Physician
The Medical Academy of Pediatric Special Needs
is a group of professionals who offer a
Comprehensive Education and Fellowship to
Medical Professionals for the care of children
with Autism Spectrum Disorders and related
Chronic Complex Conditions Their mission is to
prepare medical professionals to deliver the best
possible care to children with ASD and other
special needs conditions Under the guidance of
Daniel Rossignol MD FAAFP this uniquely
designed scientific evidence-based course of
study is designed by clinicians for clinicians
MAPS Physicians are at the forefront of helping
families by thoroughly assessing and treating the
chronic conditions based on science and the needs
of each individual that can positively affect ones
quality of life
I recently had the privilege of catching up with
one of the busiest lecturing physicians of MAPS
Dr David Berger MD FAAP Dr David is a
board-certified pediatrician who specializes in
holistic pediatric primary care nutritional and
detoxification therapies
How can this approach help individuals with
Angelman Syndrome
Dr David ndash ldquoThe approach is an individualized
approach It is about Biochemistry and looking
into the body and treating the body as a whole
(The reason he named his practice Wholistic
Pediatrics and Family Care
wwwwholisticfamilycarecom) We are also
documenting that individuals with Down
Syndrome (also a genetic condition) are also
improving with Biomedical treatments so we
know that established genetics conditions can
benefit from theses treatmentsrdquo
helliphelliphelliphelliphelliphellip
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Dr David (as he is referred to by his patients) is
no stranger to Angelman Syndrome in fact he
has worked with Dr Jaime L Frias (from the
Department of Pediatrics Division of Genetics
University of Florida College of Medicine co-
author of the 1982 paper in the American
Journal of Medical Genetics on Angelman
Syndrome) he is also my son Nathanrsquos
Pediatrician
ldquoThe individualized approach is simple
Biochemistry Physiology and Anatomy
Providing practical solutions of treatment The
time spent with each patient is very important
A five minute consultation cannot treat a
patient effectively A complete evaluation is
necessary to find and correct the underlying
abnormalitiesrdquo
Many of the chronic conditions that
individuals with Angelman syndrome can be
treated for are Nutritional deficiencies
metabolic deficiencies Mitochondria
dysfunction Methylation problems
inflammation Constipationdiarrhea illness
ear infections allergies sleep disorders
seizures and more The ability to truly get
individuals healthy is what I have found with
you and MAPS Doctors These are
treatments that can be done today
ldquoYes you have just described my overall career
and the chronic conditions we treat whether it is
individuals with Autism Down Syndrome or
Angelman Syndrome The path to healing is
like a marathon I explain to my patients it is
not a sprint It is a steady process much like
lifting up the hood of a car and checking the
engine We must look inside the individual and
evaluate the intestinal track food digestion
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Syndrome Angelman France is an association created
nationally for those families and friends of people who have
the care of SAF The administration of SAF is composed of
families as well as professionals from the medical
paramedical and medico-social world The functioning of
SAF is totally assured by voluntary workers
What does the SAF Association propose
- Enchance the expertise of parents in organizing and
facilitating the dissemination of information and sharing
experiences This is why a website magazine has been
created and managed ( wwwsyndromeangelman-franceorg
) This site is interactive collaborative and has a regular
and consistent link with families spread over the five
continents
- Be a resource center for families having someone with this
disability in society
- Deepen reflection on their own disability of mental
handicap and thus contribute to others a view on this
difference
- Publicize the Angelman syndrome
- Encourage and help the research by informing and
sensibilizing medical paramedical social and medico-
social groups on traditional and innovative educational
methods adapted to the Angelman syndrome
- Cooperate by exchanges with other regional and national
associations who have the same values and objectives
Two SAF actions
- Inventory of individuals with Angelman syndrome
- Find the results of our investigation on the website
httpwww syndromeangelman-franceorgwp-
contentuploadsSurvey-Angelman-Adult-2013-Francepdf
Syndrome Angelman France wwwsyndromeangelman-franceorg
wwwfacebookcomSyndromeAngelmanFrance
A BOOK TO READ ldquoAngelman Syndrome - A look on
a rare neurogenetic diseaserdquo
This book is published by Editions
H prefaced by Professor DAN and
written by Anne Castle Anne is the
mother of a young adult Angelman
and Vice-president of the
Syndrome Angelman France
association
Collection Sciences et Socieacuteteacute ndash
Editions LrsquoHarmattan
BUY TODAY WITH THIS LINK
A lire Le SA Regard sur une
maladie neurogeacuteneacutetique rare un
livre publieacute aux eacuteditions H preacutefaceacute
par le Pr DAN et eacutecrit par Anne
Chacircteau maman drsquoun jeune adulte
A et Vice-preacutesidente de
lrsquoassociation SAF
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Thank You
A Big Thanks to all of the contributors that help
bring you Angelman Today
All of the Angelman
and Associated
Foundations
across the globe
Dr Charles Williams of University of Florida
Dr Elizabeth Thiele of Mass General
Dr David Berger of Wholistic Pediatrics
Contributors
Angelman Today Supporters
Sleep Safe Beds - wwwsleepsafebedcom
Little Keepers Sleepers ndash
wwwlittlekeepersleeperscom
MediPal ndash wwwmedipalcom
Sybille Kraft Bellamy
Peter Kraft
Charles De Broin
Eileen Braun
Anne Chateau
Karray Shwartz Cox
In the last edition I reviewed
the four genetic mechanisms
that can disrupt the Angelman
syndrome (AS) gene
chromosome deletion
imprinting defect mutation in
UBE3A and paternal
uniparental disomy When an
individual with AS has one of
these defects it is typically
present in every cell of the
body since the defect existed at
the time of conception when the
sperm and egg fused to form
the first cell of the embryo All
of the subsequent cells are thus
derived from this original cell
It is possible in rare situations
however for the AS defect to
occur after the first cell
divisions of the embryo such
that there is a normal and an
abnormal cell line the general
term for this phenomenon is
cell mosaicism
Mosaicism in an individual
with AS means that a few cells
in their body (and also in their
brain) are normal These
normal cells coexist with all of
the other cells that have the AS
defect Mosaicism in AS most
often occurs in imprinting
defects that do not involve
deletions of the imprinting
center (the great majority of
those with imprinting defects
are of this non-deletion type)
About 10 to 30 of individuals
with the non-deletion type may
have a small percent of their
cells that are normal
without the typical 15q112-q13
deletion For example 80 of the
cells in the blood may have the
typical AS deletion while 20 of
the cells are normal The same can
theoretically occur for those with
AS due to uniparental disomy To
my knowledge mosaicism for
UBE3A mutation identified by
blood study in an individual with
AS has not been reported but that
is also theoretically possible
In a mother who has an AS child
with a UBE3A mutation
mosaicism involving UBE3A has
been detected in her in what is
termed germline mosaicism
Here the mothers blood cells are
normal but apparently in her
ovaries there are egg (eg germ)
cells that have the UBE3A
mutation This situation is
presumed to be present for
example when the mother gives
birth to two subsequent children
with AS each having the same
UBE3A mutation but studies of
the mothers blood are completely
normal The diagram illustrates
this type of germline mosaicism
(blue cells are the normal cells) and
contrasts it to the other type of
mosaicism that is discussed above
termed ldquoconstitutionalrdquo meaning
that cells throughout the body are
involved
Understanding mosaicism in AS
can be complicated especially
when considering the possibility of
germline mosaicism in mothers
since this rare condition can lead to
recurrence of AS among siblings
We detect evidence of this by the
DNA methylation test that is
performed on blood When the test
suggests mosaicism we presume
(but do not really know) that cells
in the brain also have a similar
percentage of normal cells In
instances of imprinting mosaicism
the percent of normal cells is
usually less than 20 Individuals
with AS who are imprinting-type
mosaics can have relatively higher
developmental ability Some have
been noted to speak words and
even to put words together more
than is seen in the typical child
with AS who is non-mosaic They
may also have better motor ability
(eg almost normal walking) and
relatively higher cognitive skills
The three other mechanisms that
cause AS are much less likely to
have mosaicism but a few rare
instances have been reported
Chromosome studies (either
molecular or FISH-type) may
identify a small percent of cells
By Dr Charles A Williams
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician
who identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England
He was an enthusiast for the language and
country of Italy
He first observed three children who were
unrelated but showed similar symptoms of
severe intellectual delay stiff jerky gait lack of
speech seizures motor disorders and happy
demeanors
Then while vacationing in Italy he observed an
oil painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at
the Castelvecchio museum in Verona
Reminded of the children Dr Angelman
published a paper in 1965 that described what
he called ldquopuppet childrenrdquo At this time his
paper was not immediately recognized as
important
It wasnrsquot until 1982 when Charles A Williams
and Jaime L Frias of the department of
Pediatrics Division of Genetics University of
Florida College of Medicine Gainesville
submitted a paper to the American Journal of
Medical Genetics reporting studies of six
patients and comparing their data to those from
previous reports - severe developmental delay
ldquopuppet-likerdquo gait craniofacial abnormalities
and frequent episodes of laughter that it became
clear the syndrome was more common than
previously thought They proposed the name of
this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
How to Gather Emergency Supplies
When Hurricane Sandy hit the East coat in
2012 we lost electric power for 5 days and
were under a curfew for a week with limited
access to our regular food sources of supply
My son Max celebrated his 11 birthday with
candles a lot of candles Candles were the
main source of light in our kitchen We have a
generator and we used it most of the day to
recharge our laptop phone and fridge and to
keep our furnace going
We had known for days that our area would be
on the stormrsquos path We were not particularly
concerned by the flooding because we are
located on a hill but we knew we might lose
power and we did
It made me realize how quickly life can
change and disaster can strike Sandy did not
affect us too much Max was safe in our house
and I had enough food stored for him Still I
became aware of how unprepared I was to
cope with the needs of a child like Max if
things had been worse What if we had had to
evacuate Would I have had time to pack
everything I needed for him his rescue
medication his food his clothes and diapers
In the middle of a crisis would I have
remembered everything I needed to take
along
I decided I had to learn what it would take
for me to be prepared Here is what I have
discovered and would like to share with
you
Our angels are extremely sensitive to stress
a new situation new environment and a
new routine can be challenging If we had
to evacuate for any reason it would be
quick with no warning and most likely in a
panic mode
As a result Max would be exposed to a
different environment to noise and light in
a shelter and to new people Most likely he
would also become sleep deprived and I
would not be able to prepare his usual
meals and follow his special diet All theses
factors can trigger seizures as we know
Most of the time when a hurricane or a
snowstorm hits you will receive a warning
But if an unpredictable natural or man-
made disaster strikes you will have no time
to plan and you will have to leave
Every situation is different and each child
may have different and very specific needs
but here is a list of basic things you will
need and a list of websites where you can
get information to help you be better
prepared
Emergency preparedness for children with
specials needs following a therapeutic diet By Sybille Kraft Bellamy
Disaster Supplies Kit
A disaster supplies kit is a collection of basic items that could be needed in the event of a
disaster For our children with special needs we need very specific things
It is recommended to have the following
bull Medical alert tags or bracelets that identify the medical condition ie name of the
syndrome epilepsy allergies glucose dextrose intolerancehellip
bull A two-week medication supply ready for an eventual evacuation A prescription with the
patientrsquos name and his regular medication is also recommended
bull A portable bottle if your child is on O2
bull Copy of personal documents (list of medication list and any pertinent information)
bull Your child special cupbottle
bull Water one gallon per day 3-day supply 2-week supply for home
bull Non-perishable food 3-day supply for evacuation 2-week supply for home
bull Cans of coconut milkunsweetened condensed milkwhipping cream
bull Peanut butternuts buttercoconut oil
bull Individual electrolytes bagsbaby formulaketocal
bull Cans of tuna sardineslentilsbeans
bull Emergency sleeping bags
bull Emergency blanket
bull Can opener forkspoonmultipurpose tool
bull Flash light
bull DiaperwipesClorox wipes
bull Extra clothes
bull Charger for iPodsiPhone
For more information please visit
CDC Emergency Risk Communication Branch (ERCB)
Division of Emergency Operations (DEO)
Office of Public Heath Preparedness and Response (OPHPR)
The American Red Cross Get a survival kit
ldquo Are you ready An in-depth guide to citizen preparedness(Publication NoIS-22) (2004
August) Basic preparation pages 13-46
FEMA Are you ready Recovering from Disaster
FDA Registered 866-852-2337
Wersquore here to help
SleepSafe IIreg - Medium Bedwith Padding and IV Accessories
SleepSafereg - Low Bed
SleepSaferreg- High Bedoers the most safety protection with two removable safety rails
SleepSafereg Beds is domestic USA manufacturer of adaptable safety beds featuring removable safety side rails designed to virtually eliminate entrapment and falls for those with special needs The SleepSafereg bed line includes SleepSafereg SleepSafereg II and SleepSaferreg models each oering more safety rail to mattress height
SleepSafeBedcom
SleepSafe IIreg - Medium Bed in Multi-Color
SleepSaferreg- High Bedwith one safety rail removedand one safety rail rotated down
SleepSafe IIreg - Medium Bed in White
SleepSafereg Beds are built to each order oering twin or full size xed articulating or HiLo frames padding and a range of nishes SleepSafereg Beds
help those with special needs get a safe restful sleep ndash and smiles on the faces of their
caregivers who see their loved ones getting the sleep they deserve
History
Angelman Syndrome Belgium is an association
which was founded in 2011 by some parents who
have a child with the Angelman Syndrome
Aims
Our main goal is to reach the Belgium families
that have a child with the Angelman Syndrome
so we can share practical information support
each other and share as well up to date scientific
information
Activities
Yearly we organize a couple of events during
which we aim to provide a nice relaxing day for
the families Also brothers sisters and grandpa-
rents of the Angelman child are very welcome to
join on these days Our organization tries as
well to raise awareness of the angelman syndro-
me to physicians and caregivers Also scientific
research is supported by our association
FOLLOW US ON
Parents Organisation
A N G E L M A N S Y N D RO M E B E L G I U M
httpstwittercomangelmanSB httpswwwfacebookcomAngelmansyndroom wwwangelmansyndroombe Postangelmansyndroombe
Dads and Dudes with Angels By Charles De Broin from Montreal Quebec
Do we dads have it easy you say
That romantic night turns into a nine month wait for a
little miracle of life
Mom suddenly takes over and knows what to do
almost by instinct or is it the eighteen girlfriends and
her mom that make it all dizzily work
No sleep no more calm evenings to watch the game
on tv but all this is so much fun
They grow so fast and suddenly you realize
something is wrong
Mother panics dad comforts her to no avail
Doctors spin to find what it is that makes an otherwise
healthy baby not progress as the growth curve
indicates
ldquoGive it a while children grow at varying ratesrdquo the
good doctor says
Unsatisfied mom turns to every avenue and is told
that a genetic test might pinpoint the culprit that is
making our baby so different than her sister Helenrsquos
baby
The test is done and Angelman Syndrome is defined
as the source of our babyrsquos problem
The questions beginhellip ldquoWill he talk will he walk that
dream of him being a lawyer is still alive isnrsquot it will he
be able to play baseball or soccerrdquo Mom is
more rationalhellip ldquoIt doesnrsquot matter I will love him no
matter what just make those damned seizure stop
doctor pleaserdquo
The fear give way to advocacy mom is a spoke-person
for equal rights of the disabled in the school the
community and rattles parent teacher groups for
change in a system cold and oblivious to the less
fortunate Dad starts a foundation for latter years and
reluctantly accepts the defeat of not having the
brightest and strongest boy on the block
Before either of them know it their son is over 30 and
both mom and dad realize that the dream of having a
child in their lives forever has come true
He now lives in a group home but visits regularly at
home and yes mom and dad have a tag team
arrangement when their son still wakes up at 300
am ready to start his day They still visit the farm to
see his favorite horse and in the summer visit their little
country place where he can stare into a campfire and
giggle as mom and dad sing campfire song like when
he was a child
And this summerrsquos holiday spent with mom and dad
both tired and sleep deprived after a few short nights
Both looking at each other and speaking of enjoying
that unconditional lovehellip that hug at bed-time that
speaks so much of thanks and recognition
Words Of
Wisdom
Words Of Wisdom Parent Shared Experience
WHAT IS A MAPS DOCTOR
AND WHY SHOULD I HAVE ONE MAPS ndash Medical Academy of Pediatric Special Needs
Interview with Dr David Berger Wholistic Pediatrics and MAPS Physician
The Medical Academy of Pediatric Special Needs
is a group of professionals who offer a
Comprehensive Education and Fellowship to
Medical Professionals for the care of children
with Autism Spectrum Disorders and related
Chronic Complex Conditions Their mission is to
prepare medical professionals to deliver the best
possible care to children with ASD and other
special needs conditions Under the guidance of
Daniel Rossignol MD FAAFP this uniquely
designed scientific evidence-based course of
study is designed by clinicians for clinicians
MAPS Physicians are at the forefront of helping
families by thoroughly assessing and treating the
chronic conditions based on science and the needs
of each individual that can positively affect ones
quality of life
I recently had the privilege of catching up with
one of the busiest lecturing physicians of MAPS
Dr David Berger MD FAAP Dr David is a
board-certified pediatrician who specializes in
holistic pediatric primary care nutritional and
detoxification therapies
How can this approach help individuals with
Angelman Syndrome
Dr David ndash ldquoThe approach is an individualized
approach It is about Biochemistry and looking
into the body and treating the body as a whole
(The reason he named his practice Wholistic
Pediatrics and Family Care
wwwwholisticfamilycarecom) We are also
documenting that individuals with Down
Syndrome (also a genetic condition) are also
improving with Biomedical treatments so we
know that established genetics conditions can
benefit from theses treatmentsrdquo
helliphelliphelliphelliphelliphellip
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Dr David (as he is referred to by his patients) is
no stranger to Angelman Syndrome in fact he
has worked with Dr Jaime L Frias (from the
Department of Pediatrics Division of Genetics
University of Florida College of Medicine co-
author of the 1982 paper in the American
Journal of Medical Genetics on Angelman
Syndrome) he is also my son Nathanrsquos
Pediatrician
ldquoThe individualized approach is simple
Biochemistry Physiology and Anatomy
Providing practical solutions of treatment The
time spent with each patient is very important
A five minute consultation cannot treat a
patient effectively A complete evaluation is
necessary to find and correct the underlying
abnormalitiesrdquo
Many of the chronic conditions that
individuals with Angelman syndrome can be
treated for are Nutritional deficiencies
metabolic deficiencies Mitochondria
dysfunction Methylation problems
inflammation Constipationdiarrhea illness
ear infections allergies sleep disorders
seizures and more The ability to truly get
individuals healthy is what I have found with
you and MAPS Doctors These are
treatments that can be done today
ldquoYes you have just described my overall career
and the chronic conditions we treat whether it is
individuals with Autism Down Syndrome or
Angelman Syndrome The path to healing is
like a marathon I explain to my patients it is
not a sprint It is a steady process much like
lifting up the hood of a car and checking the
engine We must look inside the individual and
evaluate the intestinal track food digestion
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions products or procedures that appear on this website or online magazine All matters regarding your health should be supervised by a licensed health care physician Copyright 2013 Angelman Today LLC All rights reserved worldwide
Thank You
A Big Thanks to all of the contributors that help
bring you Angelman Today
All of the Angelman
and Associated
Foundations
across the globe
Dr Charles Williams of University of Florida
Dr Elizabeth Thiele of Mass General
Dr David Berger of Wholistic Pediatrics
Contributors
Angelman Today Supporters
Sleep Safe Beds - wwwsleepsafebedcom
Little Keepers Sleepers ndash
wwwlittlekeepersleeperscom
MediPal ndash wwwmedipalcom
Sybille Kraft Bellamy
Peter Kraft
Charles De Broin
Eileen Braun
Anne Chateau
Karray Shwartz Cox
In the last edition I reviewed
the four genetic mechanisms
that can disrupt the Angelman
syndrome (AS) gene
chromosome deletion
imprinting defect mutation in
UBE3A and paternal
uniparental disomy When an
individual with AS has one of
these defects it is typically
present in every cell of the
body since the defect existed at
the time of conception when the
sperm and egg fused to form
the first cell of the embryo All
of the subsequent cells are thus
derived from this original cell
It is possible in rare situations
however for the AS defect to
occur after the first cell
divisions of the embryo such
that there is a normal and an
abnormal cell line the general
term for this phenomenon is
cell mosaicism
Mosaicism in an individual
with AS means that a few cells
in their body (and also in their
brain) are normal These
normal cells coexist with all of
the other cells that have the AS
defect Mosaicism in AS most
often occurs in imprinting
defects that do not involve
deletions of the imprinting
center (the great majority of
those with imprinting defects
are of this non-deletion type)
About 10 to 30 of individuals
with the non-deletion type may
have a small percent of their
cells that are normal
without the typical 15q112-q13
deletion For example 80 of the
cells in the blood may have the
typical AS deletion while 20 of
the cells are normal The same can
theoretically occur for those with
AS due to uniparental disomy To
my knowledge mosaicism for
UBE3A mutation identified by
blood study in an individual with
AS has not been reported but that
is also theoretically possible
In a mother who has an AS child
with a UBE3A mutation
mosaicism involving UBE3A has
been detected in her in what is
termed germline mosaicism
Here the mothers blood cells are
normal but apparently in her
ovaries there are egg (eg germ)
cells that have the UBE3A
mutation This situation is
presumed to be present for
example when the mother gives
birth to two subsequent children
with AS each having the same
UBE3A mutation but studies of
the mothers blood are completely
normal The diagram illustrates
this type of germline mosaicism
(blue cells are the normal cells) and
contrasts it to the other type of
mosaicism that is discussed above
termed ldquoconstitutionalrdquo meaning
that cells throughout the body are
involved
Understanding mosaicism in AS
can be complicated especially
when considering the possibility of
germline mosaicism in mothers
since this rare condition can lead to
recurrence of AS among siblings
We detect evidence of this by the
DNA methylation test that is
performed on blood When the test
suggests mosaicism we presume
(but do not really know) that cells
in the brain also have a similar
percentage of normal cells In
instances of imprinting mosaicism
the percent of normal cells is
usually less than 20 Individuals
with AS who are imprinting-type
mosaics can have relatively higher
developmental ability Some have
been noted to speak words and
even to put words together more
than is seen in the typical child
with AS who is non-mosaic They
may also have better motor ability
(eg almost normal walking) and
relatively higher cognitive skills
The three other mechanisms that
cause AS are much less likely to
have mosaicism but a few rare
instances have been reported
Chromosome studies (either
molecular or FISH-type) may
identify a small percent of cells
By Dr Charles A Williams
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician
who identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England
He was an enthusiast for the language and
country of Italy
He first observed three children who were
unrelated but showed similar symptoms of
severe intellectual delay stiff jerky gait lack of
speech seizures motor disorders and happy
demeanors
Then while vacationing in Italy he observed an
oil painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at
the Castelvecchio museum in Verona
Reminded of the children Dr Angelman
published a paper in 1965 that described what
he called ldquopuppet childrenrdquo At this time his
paper was not immediately recognized as
important
It wasnrsquot until 1982 when Charles A Williams
and Jaime L Frias of the department of
Pediatrics Division of Genetics University of
Florida College of Medicine Gainesville
submitted a paper to the American Journal of
Medical Genetics reporting studies of six
patients and comparing their data to those from
previous reports - severe developmental delay
ldquopuppet-likerdquo gait craniofacial abnormalities
and frequent episodes of laughter that it became
clear the syndrome was more common than
previously thought They proposed the name of
this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
How to Gather Emergency Supplies
When Hurricane Sandy hit the East coat in
2012 we lost electric power for 5 days and
were under a curfew for a week with limited
access to our regular food sources of supply
My son Max celebrated his 11 birthday with
candles a lot of candles Candles were the
main source of light in our kitchen We have a
generator and we used it most of the day to
recharge our laptop phone and fridge and to
keep our furnace going
We had known for days that our area would be
on the stormrsquos path We were not particularly
concerned by the flooding because we are
located on a hill but we knew we might lose
power and we did
It made me realize how quickly life can
change and disaster can strike Sandy did not
affect us too much Max was safe in our house
and I had enough food stored for him Still I
became aware of how unprepared I was to
cope with the needs of a child like Max if
things had been worse What if we had had to
evacuate Would I have had time to pack
everything I needed for him his rescue
medication his food his clothes and diapers
In the middle of a crisis would I have
remembered everything I needed to take
along
I decided I had to learn what it would take
for me to be prepared Here is what I have
discovered and would like to share with
you
Our angels are extremely sensitive to stress
a new situation new environment and a
new routine can be challenging If we had
to evacuate for any reason it would be
quick with no warning and most likely in a
panic mode
As a result Max would be exposed to a
different environment to noise and light in
a shelter and to new people Most likely he
would also become sleep deprived and I
would not be able to prepare his usual
meals and follow his special diet All theses
factors can trigger seizures as we know
Most of the time when a hurricane or a
snowstorm hits you will receive a warning
But if an unpredictable natural or man-
made disaster strikes you will have no time
to plan and you will have to leave
Every situation is different and each child
may have different and very specific needs
but here is a list of basic things you will
need and a list of websites where you can
get information to help you be better
prepared
Emergency preparedness for children with
specials needs following a therapeutic diet By Sybille Kraft Bellamy
Disaster Supplies Kit
A disaster supplies kit is a collection of basic items that could be needed in the event of a
disaster For our children with special needs we need very specific things
It is recommended to have the following
bull Medical alert tags or bracelets that identify the medical condition ie name of the
syndrome epilepsy allergies glucose dextrose intolerancehellip
bull A two-week medication supply ready for an eventual evacuation A prescription with the
patientrsquos name and his regular medication is also recommended
bull A portable bottle if your child is on O2
bull Copy of personal documents (list of medication list and any pertinent information)
bull Your child special cupbottle
bull Water one gallon per day 3-day supply 2-week supply for home
bull Non-perishable food 3-day supply for evacuation 2-week supply for home
bull Cans of coconut milkunsweetened condensed milkwhipping cream
bull Peanut butternuts buttercoconut oil
bull Individual electrolytes bagsbaby formulaketocal
bull Cans of tuna sardineslentilsbeans
bull Emergency sleeping bags
bull Emergency blanket
bull Can opener forkspoonmultipurpose tool
bull Flash light
bull DiaperwipesClorox wipes
bull Extra clothes
bull Charger for iPodsiPhone
For more information please visit
CDC Emergency Risk Communication Branch (ERCB)
Division of Emergency Operations (DEO)
Office of Public Heath Preparedness and Response (OPHPR)
The American Red Cross Get a survival kit
ldquo Are you ready An in-depth guide to citizen preparedness(Publication NoIS-22) (2004
August) Basic preparation pages 13-46
FEMA Are you ready Recovering from Disaster
FDA Registered 866-852-2337
Wersquore here to help
SleepSafe IIreg - Medium Bedwith Padding and IV Accessories
SleepSafereg - Low Bed
SleepSaferreg- High Bedoers the most safety protection with two removable safety rails
SleepSafereg Beds is domestic USA manufacturer of adaptable safety beds featuring removable safety side rails designed to virtually eliminate entrapment and falls for those with special needs The SleepSafereg bed line includes SleepSafereg SleepSafereg II and SleepSaferreg models each oering more safety rail to mattress height
SleepSafeBedcom
SleepSafe IIreg - Medium Bed in Multi-Color
SleepSaferreg- High Bedwith one safety rail removedand one safety rail rotated down
SleepSafe IIreg - Medium Bed in White
SleepSafereg Beds are built to each order oering twin or full size xed articulating or HiLo frames padding and a range of nishes SleepSafereg Beds
help those with special needs get a safe restful sleep ndash and smiles on the faces of their
caregivers who see their loved ones getting the sleep they deserve
History
Angelman Syndrome Belgium is an association
which was founded in 2011 by some parents who
have a child with the Angelman Syndrome
Aims
Our main goal is to reach the Belgium families
that have a child with the Angelman Syndrome
so we can share practical information support
each other and share as well up to date scientific
information
Activities
Yearly we organize a couple of events during
which we aim to provide a nice relaxing day for
the families Also brothers sisters and grandpa-
rents of the Angelman child are very welcome to
join on these days Our organization tries as
well to raise awareness of the angelman syndro-
me to physicians and caregivers Also scientific
research is supported by our association
FOLLOW US ON
Parents Organisation
A N G E L M A N S Y N D RO M E B E L G I U M
httpstwittercomangelmanSB httpswwwfacebookcomAngelmansyndroom wwwangelmansyndroombe Postangelmansyndroombe
Dads and Dudes with Angels By Charles De Broin from Montreal Quebec
Do we dads have it easy you say
That romantic night turns into a nine month wait for a
little miracle of life
Mom suddenly takes over and knows what to do
almost by instinct or is it the eighteen girlfriends and
her mom that make it all dizzily work
No sleep no more calm evenings to watch the game
on tv but all this is so much fun
They grow so fast and suddenly you realize
something is wrong
Mother panics dad comforts her to no avail
Doctors spin to find what it is that makes an otherwise
healthy baby not progress as the growth curve
indicates
ldquoGive it a while children grow at varying ratesrdquo the
good doctor says
Unsatisfied mom turns to every avenue and is told
that a genetic test might pinpoint the culprit that is
making our baby so different than her sister Helenrsquos
baby
The test is done and Angelman Syndrome is defined
as the source of our babyrsquos problem
The questions beginhellip ldquoWill he talk will he walk that
dream of him being a lawyer is still alive isnrsquot it will he
be able to play baseball or soccerrdquo Mom is
more rationalhellip ldquoIt doesnrsquot matter I will love him no
matter what just make those damned seizure stop
doctor pleaserdquo
The fear give way to advocacy mom is a spoke-person
for equal rights of the disabled in the school the
community and rattles parent teacher groups for
change in a system cold and oblivious to the less
fortunate Dad starts a foundation for latter years and
reluctantly accepts the defeat of not having the
brightest and strongest boy on the block
Before either of them know it their son is over 30 and
both mom and dad realize that the dream of having a
child in their lives forever has come true
He now lives in a group home but visits regularly at
home and yes mom and dad have a tag team
arrangement when their son still wakes up at 300
am ready to start his day They still visit the farm to
see his favorite horse and in the summer visit their little
country place where he can stare into a campfire and
giggle as mom and dad sing campfire song like when
he was a child
And this summerrsquos holiday spent with mom and dad
both tired and sleep deprived after a few short nights
Both looking at each other and speaking of enjoying
that unconditional lovehellip that hug at bed-time that
speaks so much of thanks and recognition
Words Of
Wisdom
Words Of Wisdom Parent Shared Experience
WHAT IS A MAPS DOCTOR
AND WHY SHOULD I HAVE ONE MAPS ndash Medical Academy of Pediatric Special Needs
Interview with Dr David Berger Wholistic Pediatrics and MAPS Physician
The Medical Academy of Pediatric Special Needs
is a group of professionals who offer a
Comprehensive Education and Fellowship to
Medical Professionals for the care of children
with Autism Spectrum Disorders and related
Chronic Complex Conditions Their mission is to
prepare medical professionals to deliver the best
possible care to children with ASD and other
special needs conditions Under the guidance of
Daniel Rossignol MD FAAFP this uniquely
designed scientific evidence-based course of
study is designed by clinicians for clinicians
MAPS Physicians are at the forefront of helping
families by thoroughly assessing and treating the
chronic conditions based on science and the needs
of each individual that can positively affect ones
quality of life
I recently had the privilege of catching up with
one of the busiest lecturing physicians of MAPS
Dr David Berger MD FAAP Dr David is a
board-certified pediatrician who specializes in
holistic pediatric primary care nutritional and
detoxification therapies
How can this approach help individuals with
Angelman Syndrome
Dr David ndash ldquoThe approach is an individualized
approach It is about Biochemistry and looking
into the body and treating the body as a whole
(The reason he named his practice Wholistic
Pediatrics and Family Care
wwwwholisticfamilycarecom) We are also
documenting that individuals with Down
Syndrome (also a genetic condition) are also
improving with Biomedical treatments so we
know that established genetics conditions can
benefit from theses treatmentsrdquo
helliphelliphelliphelliphelliphellip
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Dr David (as he is referred to by his patients) is
no stranger to Angelman Syndrome in fact he
has worked with Dr Jaime L Frias (from the
Department of Pediatrics Division of Genetics
University of Florida College of Medicine co-
author of the 1982 paper in the American
Journal of Medical Genetics on Angelman
Syndrome) he is also my son Nathanrsquos
Pediatrician
ldquoThe individualized approach is simple
Biochemistry Physiology and Anatomy
Providing practical solutions of treatment The
time spent with each patient is very important
A five minute consultation cannot treat a
patient effectively A complete evaluation is
necessary to find and correct the underlying
abnormalitiesrdquo
Many of the chronic conditions that
individuals with Angelman syndrome can be
treated for are Nutritional deficiencies
metabolic deficiencies Mitochondria
dysfunction Methylation problems
inflammation Constipationdiarrhea illness
ear infections allergies sleep disorders
seizures and more The ability to truly get
individuals healthy is what I have found with
you and MAPS Doctors These are
treatments that can be done today
ldquoYes you have just described my overall career
and the chronic conditions we treat whether it is
individuals with Autism Down Syndrome or
Angelman Syndrome The path to healing is
like a marathon I explain to my patients it is
not a sprint It is a steady process much like
lifting up the hood of a car and checking the
engine We must look inside the individual and
evaluate the intestinal track food digestion
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
In the last edition I reviewed
the four genetic mechanisms
that can disrupt the Angelman
syndrome (AS) gene
chromosome deletion
imprinting defect mutation in
UBE3A and paternal
uniparental disomy When an
individual with AS has one of
these defects it is typically
present in every cell of the
body since the defect existed at
the time of conception when the
sperm and egg fused to form
the first cell of the embryo All
of the subsequent cells are thus
derived from this original cell
It is possible in rare situations
however for the AS defect to
occur after the first cell
divisions of the embryo such
that there is a normal and an
abnormal cell line the general
term for this phenomenon is
cell mosaicism
Mosaicism in an individual
with AS means that a few cells
in their body (and also in their
brain) are normal These
normal cells coexist with all of
the other cells that have the AS
defect Mosaicism in AS most
often occurs in imprinting
defects that do not involve
deletions of the imprinting
center (the great majority of
those with imprinting defects
are of this non-deletion type)
About 10 to 30 of individuals
with the non-deletion type may
have a small percent of their
cells that are normal
without the typical 15q112-q13
deletion For example 80 of the
cells in the blood may have the
typical AS deletion while 20 of
the cells are normal The same can
theoretically occur for those with
AS due to uniparental disomy To
my knowledge mosaicism for
UBE3A mutation identified by
blood study in an individual with
AS has not been reported but that
is also theoretically possible
In a mother who has an AS child
with a UBE3A mutation
mosaicism involving UBE3A has
been detected in her in what is
termed germline mosaicism
Here the mothers blood cells are
normal but apparently in her
ovaries there are egg (eg germ)
cells that have the UBE3A
mutation This situation is
presumed to be present for
example when the mother gives
birth to two subsequent children
with AS each having the same
UBE3A mutation but studies of
the mothers blood are completely
normal The diagram illustrates
this type of germline mosaicism
(blue cells are the normal cells) and
contrasts it to the other type of
mosaicism that is discussed above
termed ldquoconstitutionalrdquo meaning
that cells throughout the body are
involved
Understanding mosaicism in AS
can be complicated especially
when considering the possibility of
germline mosaicism in mothers
since this rare condition can lead to
recurrence of AS among siblings
We detect evidence of this by the
DNA methylation test that is
performed on blood When the test
suggests mosaicism we presume
(but do not really know) that cells
in the brain also have a similar
percentage of normal cells In
instances of imprinting mosaicism
the percent of normal cells is
usually less than 20 Individuals
with AS who are imprinting-type
mosaics can have relatively higher
developmental ability Some have
been noted to speak words and
even to put words together more
than is seen in the typical child
with AS who is non-mosaic They
may also have better motor ability
(eg almost normal walking) and
relatively higher cognitive skills
The three other mechanisms that
cause AS are much less likely to
have mosaicism but a few rare
instances have been reported
Chromosome studies (either
molecular or FISH-type) may
identify a small percent of cells
By Dr Charles A Williams
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician
who identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England
He was an enthusiast for the language and
country of Italy
He first observed three children who were
unrelated but showed similar symptoms of
severe intellectual delay stiff jerky gait lack of
speech seizures motor disorders and happy
demeanors
Then while vacationing in Italy he observed an
oil painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at
the Castelvecchio museum in Verona
Reminded of the children Dr Angelman
published a paper in 1965 that described what
he called ldquopuppet childrenrdquo At this time his
paper was not immediately recognized as
important
It wasnrsquot until 1982 when Charles A Williams
and Jaime L Frias of the department of
Pediatrics Division of Genetics University of
Florida College of Medicine Gainesville
submitted a paper to the American Journal of
Medical Genetics reporting studies of six
patients and comparing their data to those from
previous reports - severe developmental delay
ldquopuppet-likerdquo gait craniofacial abnormalities
and frequent episodes of laughter that it became
clear the syndrome was more common than
previously thought They proposed the name of
this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
How to Gather Emergency Supplies
When Hurricane Sandy hit the East coat in
2012 we lost electric power for 5 days and
were under a curfew for a week with limited
access to our regular food sources of supply
My son Max celebrated his 11 birthday with
candles a lot of candles Candles were the
main source of light in our kitchen We have a
generator and we used it most of the day to
recharge our laptop phone and fridge and to
keep our furnace going
We had known for days that our area would be
on the stormrsquos path We were not particularly
concerned by the flooding because we are
located on a hill but we knew we might lose
power and we did
It made me realize how quickly life can
change and disaster can strike Sandy did not
affect us too much Max was safe in our house
and I had enough food stored for him Still I
became aware of how unprepared I was to
cope with the needs of a child like Max if
things had been worse What if we had had to
evacuate Would I have had time to pack
everything I needed for him his rescue
medication his food his clothes and diapers
In the middle of a crisis would I have
remembered everything I needed to take
along
I decided I had to learn what it would take
for me to be prepared Here is what I have
discovered and would like to share with
you
Our angels are extremely sensitive to stress
a new situation new environment and a
new routine can be challenging If we had
to evacuate for any reason it would be
quick with no warning and most likely in a
panic mode
As a result Max would be exposed to a
different environment to noise and light in
a shelter and to new people Most likely he
would also become sleep deprived and I
would not be able to prepare his usual
meals and follow his special diet All theses
factors can trigger seizures as we know
Most of the time when a hurricane or a
snowstorm hits you will receive a warning
But if an unpredictable natural or man-
made disaster strikes you will have no time
to plan and you will have to leave
Every situation is different and each child
may have different and very specific needs
but here is a list of basic things you will
need and a list of websites where you can
get information to help you be better
prepared
Emergency preparedness for children with
specials needs following a therapeutic diet By Sybille Kraft Bellamy
Disaster Supplies Kit
A disaster supplies kit is a collection of basic items that could be needed in the event of a
disaster For our children with special needs we need very specific things
It is recommended to have the following
bull Medical alert tags or bracelets that identify the medical condition ie name of the
syndrome epilepsy allergies glucose dextrose intolerancehellip
bull A two-week medication supply ready for an eventual evacuation A prescription with the
patientrsquos name and his regular medication is also recommended
bull A portable bottle if your child is on O2
bull Copy of personal documents (list of medication list and any pertinent information)
bull Your child special cupbottle
bull Water one gallon per day 3-day supply 2-week supply for home
bull Non-perishable food 3-day supply for evacuation 2-week supply for home
bull Cans of coconut milkunsweetened condensed milkwhipping cream
bull Peanut butternuts buttercoconut oil
bull Individual electrolytes bagsbaby formulaketocal
bull Cans of tuna sardineslentilsbeans
bull Emergency sleeping bags
bull Emergency blanket
bull Can opener forkspoonmultipurpose tool
bull Flash light
bull DiaperwipesClorox wipes
bull Extra clothes
bull Charger for iPodsiPhone
For more information please visit
CDC Emergency Risk Communication Branch (ERCB)
Division of Emergency Operations (DEO)
Office of Public Heath Preparedness and Response (OPHPR)
The American Red Cross Get a survival kit
ldquo Are you ready An in-depth guide to citizen preparedness(Publication NoIS-22) (2004
August) Basic preparation pages 13-46
FEMA Are you ready Recovering from Disaster
FDA Registered 866-852-2337
Wersquore here to help
SleepSafe IIreg - Medium Bedwith Padding and IV Accessories
SleepSafereg - Low Bed
SleepSaferreg- High Bedoers the most safety protection with two removable safety rails
SleepSafereg Beds is domestic USA manufacturer of adaptable safety beds featuring removable safety side rails designed to virtually eliminate entrapment and falls for those with special needs The SleepSafereg bed line includes SleepSafereg SleepSafereg II and SleepSaferreg models each oering more safety rail to mattress height
SleepSafeBedcom
SleepSafe IIreg - Medium Bed in Multi-Color
SleepSaferreg- High Bedwith one safety rail removedand one safety rail rotated down
SleepSafe IIreg - Medium Bed in White
SleepSafereg Beds are built to each order oering twin or full size xed articulating or HiLo frames padding and a range of nishes SleepSafereg Beds
help those with special needs get a safe restful sleep ndash and smiles on the faces of their
caregivers who see their loved ones getting the sleep they deserve
History
Angelman Syndrome Belgium is an association
which was founded in 2011 by some parents who
have a child with the Angelman Syndrome
Aims
Our main goal is to reach the Belgium families
that have a child with the Angelman Syndrome
so we can share practical information support
each other and share as well up to date scientific
information
Activities
Yearly we organize a couple of events during
which we aim to provide a nice relaxing day for
the families Also brothers sisters and grandpa-
rents of the Angelman child are very welcome to
join on these days Our organization tries as
well to raise awareness of the angelman syndro-
me to physicians and caregivers Also scientific
research is supported by our association
FOLLOW US ON
Parents Organisation
A N G E L M A N S Y N D RO M E B E L G I U M
httpstwittercomangelmanSB httpswwwfacebookcomAngelmansyndroom wwwangelmansyndroombe Postangelmansyndroombe
Dads and Dudes with Angels By Charles De Broin from Montreal Quebec
Do we dads have it easy you say
That romantic night turns into a nine month wait for a
little miracle of life
Mom suddenly takes over and knows what to do
almost by instinct or is it the eighteen girlfriends and
her mom that make it all dizzily work
No sleep no more calm evenings to watch the game
on tv but all this is so much fun
They grow so fast and suddenly you realize
something is wrong
Mother panics dad comforts her to no avail
Doctors spin to find what it is that makes an otherwise
healthy baby not progress as the growth curve
indicates
ldquoGive it a while children grow at varying ratesrdquo the
good doctor says
Unsatisfied mom turns to every avenue and is told
that a genetic test might pinpoint the culprit that is
making our baby so different than her sister Helenrsquos
baby
The test is done and Angelman Syndrome is defined
as the source of our babyrsquos problem
The questions beginhellip ldquoWill he talk will he walk that
dream of him being a lawyer is still alive isnrsquot it will he
be able to play baseball or soccerrdquo Mom is
more rationalhellip ldquoIt doesnrsquot matter I will love him no
matter what just make those damned seizure stop
doctor pleaserdquo
The fear give way to advocacy mom is a spoke-person
for equal rights of the disabled in the school the
community and rattles parent teacher groups for
change in a system cold and oblivious to the less
fortunate Dad starts a foundation for latter years and
reluctantly accepts the defeat of not having the
brightest and strongest boy on the block
Before either of them know it their son is over 30 and
both mom and dad realize that the dream of having a
child in their lives forever has come true
He now lives in a group home but visits regularly at
home and yes mom and dad have a tag team
arrangement when their son still wakes up at 300
am ready to start his day They still visit the farm to
see his favorite horse and in the summer visit their little
country place where he can stare into a campfire and
giggle as mom and dad sing campfire song like when
he was a child
And this summerrsquos holiday spent with mom and dad
both tired and sleep deprived after a few short nights
Both looking at each other and speaking of enjoying
that unconditional lovehellip that hug at bed-time that
speaks so much of thanks and recognition
Words Of
Wisdom
Words Of Wisdom Parent Shared Experience
WHAT IS A MAPS DOCTOR
AND WHY SHOULD I HAVE ONE MAPS ndash Medical Academy of Pediatric Special Needs
Interview with Dr David Berger Wholistic Pediatrics and MAPS Physician
The Medical Academy of Pediatric Special Needs
is a group of professionals who offer a
Comprehensive Education and Fellowship to
Medical Professionals for the care of children
with Autism Spectrum Disorders and related
Chronic Complex Conditions Their mission is to
prepare medical professionals to deliver the best
possible care to children with ASD and other
special needs conditions Under the guidance of
Daniel Rossignol MD FAAFP this uniquely
designed scientific evidence-based course of
study is designed by clinicians for clinicians
MAPS Physicians are at the forefront of helping
families by thoroughly assessing and treating the
chronic conditions based on science and the needs
of each individual that can positively affect ones
quality of life
I recently had the privilege of catching up with
one of the busiest lecturing physicians of MAPS
Dr David Berger MD FAAP Dr David is a
board-certified pediatrician who specializes in
holistic pediatric primary care nutritional and
detoxification therapies
How can this approach help individuals with
Angelman Syndrome
Dr David ndash ldquoThe approach is an individualized
approach It is about Biochemistry and looking
into the body and treating the body as a whole
(The reason he named his practice Wholistic
Pediatrics and Family Care
wwwwholisticfamilycarecom) We are also
documenting that individuals with Down
Syndrome (also a genetic condition) are also
improving with Biomedical treatments so we
know that established genetics conditions can
benefit from theses treatmentsrdquo
helliphelliphelliphelliphelliphellip
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Dr David (as he is referred to by his patients) is
no stranger to Angelman Syndrome in fact he
has worked with Dr Jaime L Frias (from the
Department of Pediatrics Division of Genetics
University of Florida College of Medicine co-
author of the 1982 paper in the American
Journal of Medical Genetics on Angelman
Syndrome) he is also my son Nathanrsquos
Pediatrician
ldquoThe individualized approach is simple
Biochemistry Physiology and Anatomy
Providing practical solutions of treatment The
time spent with each patient is very important
A five minute consultation cannot treat a
patient effectively A complete evaluation is
necessary to find and correct the underlying
abnormalitiesrdquo
Many of the chronic conditions that
individuals with Angelman syndrome can be
treated for are Nutritional deficiencies
metabolic deficiencies Mitochondria
dysfunction Methylation problems
inflammation Constipationdiarrhea illness
ear infections allergies sleep disorders
seizures and more The ability to truly get
individuals healthy is what I have found with
you and MAPS Doctors These are
treatments that can be done today
ldquoYes you have just described my overall career
and the chronic conditions we treat whether it is
individuals with Autism Down Syndrome or
Angelman Syndrome The path to healing is
like a marathon I explain to my patients it is
not a sprint It is a steady process much like
lifting up the hood of a car and checking the
engine We must look inside the individual and
evaluate the intestinal track food digestion
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Dr Harry Angelman
1915 ndash 1996
Dr Harry Angelman was an English physician
who identified what is now known as Angelman
Syndrome
Dr Angelman was born in Birkenhead England
He was an enthusiast for the language and
country of Italy
He first observed three children who were
unrelated but showed similar symptoms of
severe intellectual delay stiff jerky gait lack of
speech seizures motor disorders and happy
demeanors
Then while vacationing in Italy he observed an
oil painting calledhellip A Boy with a Puppet by the
renaissance artist Giovanni Francesco Caroto at
the Castelvecchio museum in Verona
Reminded of the children Dr Angelman
published a paper in 1965 that described what
he called ldquopuppet childrenrdquo At this time his
paper was not immediately recognized as
important
It wasnrsquot until 1982 when Charles A Williams
and Jaime L Frias of the department of
Pediatrics Division of Genetics University of
Florida College of Medicine Gainesville
submitted a paper to the American Journal of
Medical Genetics reporting studies of six
patients and comparing their data to those from
previous reports - severe developmental delay
ldquopuppet-likerdquo gait craniofacial abnormalities
and frequent episodes of laughter that it became
clear the syndrome was more common than
previously thought They proposed the name of
this disorder be changed to Angelman
Syndrome
The History of Angelman Syndrome
How to Gather Emergency Supplies
When Hurricane Sandy hit the East coat in
2012 we lost electric power for 5 days and
were under a curfew for a week with limited
access to our regular food sources of supply
My son Max celebrated his 11 birthday with
candles a lot of candles Candles were the
main source of light in our kitchen We have a
generator and we used it most of the day to
recharge our laptop phone and fridge and to
keep our furnace going
We had known for days that our area would be
on the stormrsquos path We were not particularly
concerned by the flooding because we are
located on a hill but we knew we might lose
power and we did
It made me realize how quickly life can
change and disaster can strike Sandy did not
affect us too much Max was safe in our house
and I had enough food stored for him Still I
became aware of how unprepared I was to
cope with the needs of a child like Max if
things had been worse What if we had had to
evacuate Would I have had time to pack
everything I needed for him his rescue
medication his food his clothes and diapers
In the middle of a crisis would I have
remembered everything I needed to take
along
I decided I had to learn what it would take
for me to be prepared Here is what I have
discovered and would like to share with
you
Our angels are extremely sensitive to stress
a new situation new environment and a
new routine can be challenging If we had
to evacuate for any reason it would be
quick with no warning and most likely in a
panic mode
As a result Max would be exposed to a
different environment to noise and light in
a shelter and to new people Most likely he
would also become sleep deprived and I
would not be able to prepare his usual
meals and follow his special diet All theses
factors can trigger seizures as we know
Most of the time when a hurricane or a
snowstorm hits you will receive a warning
But if an unpredictable natural or man-
made disaster strikes you will have no time
to plan and you will have to leave
Every situation is different and each child
may have different and very specific needs
but here is a list of basic things you will
need and a list of websites where you can
get information to help you be better
prepared
Emergency preparedness for children with
specials needs following a therapeutic diet By Sybille Kraft Bellamy
Disaster Supplies Kit
A disaster supplies kit is a collection of basic items that could be needed in the event of a
disaster For our children with special needs we need very specific things
It is recommended to have the following
bull Medical alert tags or bracelets that identify the medical condition ie name of the
syndrome epilepsy allergies glucose dextrose intolerancehellip
bull A two-week medication supply ready for an eventual evacuation A prescription with the
patientrsquos name and his regular medication is also recommended
bull A portable bottle if your child is on O2
bull Copy of personal documents (list of medication list and any pertinent information)
bull Your child special cupbottle
bull Water one gallon per day 3-day supply 2-week supply for home
bull Non-perishable food 3-day supply for evacuation 2-week supply for home
bull Cans of coconut milkunsweetened condensed milkwhipping cream
bull Peanut butternuts buttercoconut oil
bull Individual electrolytes bagsbaby formulaketocal
bull Cans of tuna sardineslentilsbeans
bull Emergency sleeping bags
bull Emergency blanket
bull Can opener forkspoonmultipurpose tool
bull Flash light
bull DiaperwipesClorox wipes
bull Extra clothes
bull Charger for iPodsiPhone
For more information please visit
CDC Emergency Risk Communication Branch (ERCB)
Division of Emergency Operations (DEO)
Office of Public Heath Preparedness and Response (OPHPR)
The American Red Cross Get a survival kit
ldquo Are you ready An in-depth guide to citizen preparedness(Publication NoIS-22) (2004
August) Basic preparation pages 13-46
FEMA Are you ready Recovering from Disaster
FDA Registered 866-852-2337
Wersquore here to help
SleepSafe IIreg - Medium Bedwith Padding and IV Accessories
SleepSafereg - Low Bed
SleepSaferreg- High Bedoers the most safety protection with two removable safety rails
SleepSafereg Beds is domestic USA manufacturer of adaptable safety beds featuring removable safety side rails designed to virtually eliminate entrapment and falls for those with special needs The SleepSafereg bed line includes SleepSafereg SleepSafereg II and SleepSaferreg models each oering more safety rail to mattress height
SleepSafeBedcom
SleepSafe IIreg - Medium Bed in Multi-Color
SleepSaferreg- High Bedwith one safety rail removedand one safety rail rotated down
SleepSafe IIreg - Medium Bed in White
SleepSafereg Beds are built to each order oering twin or full size xed articulating or HiLo frames padding and a range of nishes SleepSafereg Beds
help those with special needs get a safe restful sleep ndash and smiles on the faces of their
caregivers who see their loved ones getting the sleep they deserve
History
Angelman Syndrome Belgium is an association
which was founded in 2011 by some parents who
have a child with the Angelman Syndrome
Aims
Our main goal is to reach the Belgium families
that have a child with the Angelman Syndrome
so we can share practical information support
each other and share as well up to date scientific
information
Activities
Yearly we organize a couple of events during
which we aim to provide a nice relaxing day for
the families Also brothers sisters and grandpa-
rents of the Angelman child are very welcome to
join on these days Our organization tries as
well to raise awareness of the angelman syndro-
me to physicians and caregivers Also scientific
research is supported by our association
FOLLOW US ON
Parents Organisation
A N G E L M A N S Y N D RO M E B E L G I U M
httpstwittercomangelmanSB httpswwwfacebookcomAngelmansyndroom wwwangelmansyndroombe Postangelmansyndroombe
Dads and Dudes with Angels By Charles De Broin from Montreal Quebec
Do we dads have it easy you say
That romantic night turns into a nine month wait for a
little miracle of life
Mom suddenly takes over and knows what to do
almost by instinct or is it the eighteen girlfriends and
her mom that make it all dizzily work
No sleep no more calm evenings to watch the game
on tv but all this is so much fun
They grow so fast and suddenly you realize
something is wrong
Mother panics dad comforts her to no avail
Doctors spin to find what it is that makes an otherwise
healthy baby not progress as the growth curve
indicates
ldquoGive it a while children grow at varying ratesrdquo the
good doctor says
Unsatisfied mom turns to every avenue and is told
that a genetic test might pinpoint the culprit that is
making our baby so different than her sister Helenrsquos
baby
The test is done and Angelman Syndrome is defined
as the source of our babyrsquos problem
The questions beginhellip ldquoWill he talk will he walk that
dream of him being a lawyer is still alive isnrsquot it will he
be able to play baseball or soccerrdquo Mom is
more rationalhellip ldquoIt doesnrsquot matter I will love him no
matter what just make those damned seizure stop
doctor pleaserdquo
The fear give way to advocacy mom is a spoke-person
for equal rights of the disabled in the school the
community and rattles parent teacher groups for
change in a system cold and oblivious to the less
fortunate Dad starts a foundation for latter years and
reluctantly accepts the defeat of not having the
brightest and strongest boy on the block
Before either of them know it their son is over 30 and
both mom and dad realize that the dream of having a
child in their lives forever has come true
He now lives in a group home but visits regularly at
home and yes mom and dad have a tag team
arrangement when their son still wakes up at 300
am ready to start his day They still visit the farm to
see his favorite horse and in the summer visit their little
country place where he can stare into a campfire and
giggle as mom and dad sing campfire song like when
he was a child
And this summerrsquos holiday spent with mom and dad
both tired and sleep deprived after a few short nights
Both looking at each other and speaking of enjoying
that unconditional lovehellip that hug at bed-time that
speaks so much of thanks and recognition
Words Of
Wisdom
Words Of Wisdom Parent Shared Experience
WHAT IS A MAPS DOCTOR
AND WHY SHOULD I HAVE ONE MAPS ndash Medical Academy of Pediatric Special Needs
Interview with Dr David Berger Wholistic Pediatrics and MAPS Physician
The Medical Academy of Pediatric Special Needs
is a group of professionals who offer a
Comprehensive Education and Fellowship to
Medical Professionals for the care of children
with Autism Spectrum Disorders and related
Chronic Complex Conditions Their mission is to
prepare medical professionals to deliver the best
possible care to children with ASD and other
special needs conditions Under the guidance of
Daniel Rossignol MD FAAFP this uniquely
designed scientific evidence-based course of
study is designed by clinicians for clinicians
MAPS Physicians are at the forefront of helping
families by thoroughly assessing and treating the
chronic conditions based on science and the needs
of each individual that can positively affect ones
quality of life
I recently had the privilege of catching up with
one of the busiest lecturing physicians of MAPS
Dr David Berger MD FAAP Dr David is a
board-certified pediatrician who specializes in
holistic pediatric primary care nutritional and
detoxification therapies
How can this approach help individuals with
Angelman Syndrome
Dr David ndash ldquoThe approach is an individualized
approach It is about Biochemistry and looking
into the body and treating the body as a whole
(The reason he named his practice Wholistic
Pediatrics and Family Care
wwwwholisticfamilycarecom) We are also
documenting that individuals with Down
Syndrome (also a genetic condition) are also
improving with Biomedical treatments so we
know that established genetics conditions can
benefit from theses treatmentsrdquo
helliphelliphelliphelliphelliphellip
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Dr David (as he is referred to by his patients) is
no stranger to Angelman Syndrome in fact he
has worked with Dr Jaime L Frias (from the
Department of Pediatrics Division of Genetics
University of Florida College of Medicine co-
author of the 1982 paper in the American
Journal of Medical Genetics on Angelman
Syndrome) he is also my son Nathanrsquos
Pediatrician
ldquoThe individualized approach is simple
Biochemistry Physiology and Anatomy
Providing practical solutions of treatment The
time spent with each patient is very important
A five minute consultation cannot treat a
patient effectively A complete evaluation is
necessary to find and correct the underlying
abnormalitiesrdquo
Many of the chronic conditions that
individuals with Angelman syndrome can be
treated for are Nutritional deficiencies
metabolic deficiencies Mitochondria
dysfunction Methylation problems
inflammation Constipationdiarrhea illness
ear infections allergies sleep disorders
seizures and more The ability to truly get
individuals healthy is what I have found with
you and MAPS Doctors These are
treatments that can be done today
ldquoYes you have just described my overall career
and the chronic conditions we treat whether it is
individuals with Autism Down Syndrome or
Angelman Syndrome The path to healing is
like a marathon I explain to my patients it is
not a sprint It is a steady process much like
lifting up the hood of a car and checking the
engine We must look inside the individual and
evaluate the intestinal track food digestion
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
How to Gather Emergency Supplies
When Hurricane Sandy hit the East coat in
2012 we lost electric power for 5 days and
were under a curfew for a week with limited
access to our regular food sources of supply
My son Max celebrated his 11 birthday with
candles a lot of candles Candles were the
main source of light in our kitchen We have a
generator and we used it most of the day to
recharge our laptop phone and fridge and to
keep our furnace going
We had known for days that our area would be
on the stormrsquos path We were not particularly
concerned by the flooding because we are
located on a hill but we knew we might lose
power and we did
It made me realize how quickly life can
change and disaster can strike Sandy did not
affect us too much Max was safe in our house
and I had enough food stored for him Still I
became aware of how unprepared I was to
cope with the needs of a child like Max if
things had been worse What if we had had to
evacuate Would I have had time to pack
everything I needed for him his rescue
medication his food his clothes and diapers
In the middle of a crisis would I have
remembered everything I needed to take
along
I decided I had to learn what it would take
for me to be prepared Here is what I have
discovered and would like to share with
you
Our angels are extremely sensitive to stress
a new situation new environment and a
new routine can be challenging If we had
to evacuate for any reason it would be
quick with no warning and most likely in a
panic mode
As a result Max would be exposed to a
different environment to noise and light in
a shelter and to new people Most likely he
would also become sleep deprived and I
would not be able to prepare his usual
meals and follow his special diet All theses
factors can trigger seizures as we know
Most of the time when a hurricane or a
snowstorm hits you will receive a warning
But if an unpredictable natural or man-
made disaster strikes you will have no time
to plan and you will have to leave
Every situation is different and each child
may have different and very specific needs
but here is a list of basic things you will
need and a list of websites where you can
get information to help you be better
prepared
Emergency preparedness for children with
specials needs following a therapeutic diet By Sybille Kraft Bellamy
Disaster Supplies Kit
A disaster supplies kit is a collection of basic items that could be needed in the event of a
disaster For our children with special needs we need very specific things
It is recommended to have the following
bull Medical alert tags or bracelets that identify the medical condition ie name of the
syndrome epilepsy allergies glucose dextrose intolerancehellip
bull A two-week medication supply ready for an eventual evacuation A prescription with the
patientrsquos name and his regular medication is also recommended
bull A portable bottle if your child is on O2
bull Copy of personal documents (list of medication list and any pertinent information)
bull Your child special cupbottle
bull Water one gallon per day 3-day supply 2-week supply for home
bull Non-perishable food 3-day supply for evacuation 2-week supply for home
bull Cans of coconut milkunsweetened condensed milkwhipping cream
bull Peanut butternuts buttercoconut oil
bull Individual electrolytes bagsbaby formulaketocal
bull Cans of tuna sardineslentilsbeans
bull Emergency sleeping bags
bull Emergency blanket
bull Can opener forkspoonmultipurpose tool
bull Flash light
bull DiaperwipesClorox wipes
bull Extra clothes
bull Charger for iPodsiPhone
For more information please visit
CDC Emergency Risk Communication Branch (ERCB)
Division of Emergency Operations (DEO)
Office of Public Heath Preparedness and Response (OPHPR)
The American Red Cross Get a survival kit
ldquo Are you ready An in-depth guide to citizen preparedness(Publication NoIS-22) (2004
August) Basic preparation pages 13-46
FEMA Are you ready Recovering from Disaster
FDA Registered 866-852-2337
Wersquore here to help
SleepSafe IIreg - Medium Bedwith Padding and IV Accessories
SleepSafereg - Low Bed
SleepSaferreg- High Bedoers the most safety protection with two removable safety rails
SleepSafereg Beds is domestic USA manufacturer of adaptable safety beds featuring removable safety side rails designed to virtually eliminate entrapment and falls for those with special needs The SleepSafereg bed line includes SleepSafereg SleepSafereg II and SleepSaferreg models each oering more safety rail to mattress height
SleepSafeBedcom
SleepSafe IIreg - Medium Bed in Multi-Color
SleepSaferreg- High Bedwith one safety rail removedand one safety rail rotated down
SleepSafe IIreg - Medium Bed in White
SleepSafereg Beds are built to each order oering twin or full size xed articulating or HiLo frames padding and a range of nishes SleepSafereg Beds
help those with special needs get a safe restful sleep ndash and smiles on the faces of their
caregivers who see their loved ones getting the sleep they deserve
History
Angelman Syndrome Belgium is an association
which was founded in 2011 by some parents who
have a child with the Angelman Syndrome
Aims
Our main goal is to reach the Belgium families
that have a child with the Angelman Syndrome
so we can share practical information support
each other and share as well up to date scientific
information
Activities
Yearly we organize a couple of events during
which we aim to provide a nice relaxing day for
the families Also brothers sisters and grandpa-
rents of the Angelman child are very welcome to
join on these days Our organization tries as
well to raise awareness of the angelman syndro-
me to physicians and caregivers Also scientific
research is supported by our association
FOLLOW US ON
Parents Organisation
A N G E L M A N S Y N D RO M E B E L G I U M
httpstwittercomangelmanSB httpswwwfacebookcomAngelmansyndroom wwwangelmansyndroombe Postangelmansyndroombe
Dads and Dudes with Angels By Charles De Broin from Montreal Quebec
Do we dads have it easy you say
That romantic night turns into a nine month wait for a
little miracle of life
Mom suddenly takes over and knows what to do
almost by instinct or is it the eighteen girlfriends and
her mom that make it all dizzily work
No sleep no more calm evenings to watch the game
on tv but all this is so much fun
They grow so fast and suddenly you realize
something is wrong
Mother panics dad comforts her to no avail
Doctors spin to find what it is that makes an otherwise
healthy baby not progress as the growth curve
indicates
ldquoGive it a while children grow at varying ratesrdquo the
good doctor says
Unsatisfied mom turns to every avenue and is told
that a genetic test might pinpoint the culprit that is
making our baby so different than her sister Helenrsquos
baby
The test is done and Angelman Syndrome is defined
as the source of our babyrsquos problem
The questions beginhellip ldquoWill he talk will he walk that
dream of him being a lawyer is still alive isnrsquot it will he
be able to play baseball or soccerrdquo Mom is
more rationalhellip ldquoIt doesnrsquot matter I will love him no
matter what just make those damned seizure stop
doctor pleaserdquo
The fear give way to advocacy mom is a spoke-person
for equal rights of the disabled in the school the
community and rattles parent teacher groups for
change in a system cold and oblivious to the less
fortunate Dad starts a foundation for latter years and
reluctantly accepts the defeat of not having the
brightest and strongest boy on the block
Before either of them know it their son is over 30 and
both mom and dad realize that the dream of having a
child in their lives forever has come true
He now lives in a group home but visits regularly at
home and yes mom and dad have a tag team
arrangement when their son still wakes up at 300
am ready to start his day They still visit the farm to
see his favorite horse and in the summer visit their little
country place where he can stare into a campfire and
giggle as mom and dad sing campfire song like when
he was a child
And this summerrsquos holiday spent with mom and dad
both tired and sleep deprived after a few short nights
Both looking at each other and speaking of enjoying
that unconditional lovehellip that hug at bed-time that
speaks so much of thanks and recognition
Words Of
Wisdom
Words Of Wisdom Parent Shared Experience
WHAT IS A MAPS DOCTOR
AND WHY SHOULD I HAVE ONE MAPS ndash Medical Academy of Pediatric Special Needs
Interview with Dr David Berger Wholistic Pediatrics and MAPS Physician
The Medical Academy of Pediatric Special Needs
is a group of professionals who offer a
Comprehensive Education and Fellowship to
Medical Professionals for the care of children
with Autism Spectrum Disorders and related
Chronic Complex Conditions Their mission is to
prepare medical professionals to deliver the best
possible care to children with ASD and other
special needs conditions Under the guidance of
Daniel Rossignol MD FAAFP this uniquely
designed scientific evidence-based course of
study is designed by clinicians for clinicians
MAPS Physicians are at the forefront of helping
families by thoroughly assessing and treating the
chronic conditions based on science and the needs
of each individual that can positively affect ones
quality of life
I recently had the privilege of catching up with
one of the busiest lecturing physicians of MAPS
Dr David Berger MD FAAP Dr David is a
board-certified pediatrician who specializes in
holistic pediatric primary care nutritional and
detoxification therapies
How can this approach help individuals with
Angelman Syndrome
Dr David ndash ldquoThe approach is an individualized
approach It is about Biochemistry and looking
into the body and treating the body as a whole
(The reason he named his practice Wholistic
Pediatrics and Family Care
wwwwholisticfamilycarecom) We are also
documenting that individuals with Down
Syndrome (also a genetic condition) are also
improving with Biomedical treatments so we
know that established genetics conditions can
benefit from theses treatmentsrdquo
helliphelliphelliphelliphelliphellip
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Dr David (as he is referred to by his patients) is
no stranger to Angelman Syndrome in fact he
has worked with Dr Jaime L Frias (from the
Department of Pediatrics Division of Genetics
University of Florida College of Medicine co-
author of the 1982 paper in the American
Journal of Medical Genetics on Angelman
Syndrome) he is also my son Nathanrsquos
Pediatrician
ldquoThe individualized approach is simple
Biochemistry Physiology and Anatomy
Providing practical solutions of treatment The
time spent with each patient is very important
A five minute consultation cannot treat a
patient effectively A complete evaluation is
necessary to find and correct the underlying
abnormalitiesrdquo
Many of the chronic conditions that
individuals with Angelman syndrome can be
treated for are Nutritional deficiencies
metabolic deficiencies Mitochondria
dysfunction Methylation problems
inflammation Constipationdiarrhea illness
ear infections allergies sleep disorders
seizures and more The ability to truly get
individuals healthy is what I have found with
you and MAPS Doctors These are
treatments that can be done today
ldquoYes you have just described my overall career
and the chronic conditions we treat whether it is
individuals with Autism Down Syndrome or
Angelman Syndrome The path to healing is
like a marathon I explain to my patients it is
not a sprint It is a steady process much like
lifting up the hood of a car and checking the
engine We must look inside the individual and
evaluate the intestinal track food digestion
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Disaster Supplies Kit
A disaster supplies kit is a collection of basic items that could be needed in the event of a
disaster For our children with special needs we need very specific things
It is recommended to have the following
bull Medical alert tags or bracelets that identify the medical condition ie name of the
syndrome epilepsy allergies glucose dextrose intolerancehellip
bull A two-week medication supply ready for an eventual evacuation A prescription with the
patientrsquos name and his regular medication is also recommended
bull A portable bottle if your child is on O2
bull Copy of personal documents (list of medication list and any pertinent information)
bull Your child special cupbottle
bull Water one gallon per day 3-day supply 2-week supply for home
bull Non-perishable food 3-day supply for evacuation 2-week supply for home
bull Cans of coconut milkunsweetened condensed milkwhipping cream
bull Peanut butternuts buttercoconut oil
bull Individual electrolytes bagsbaby formulaketocal
bull Cans of tuna sardineslentilsbeans
bull Emergency sleeping bags
bull Emergency blanket
bull Can opener forkspoonmultipurpose tool
bull Flash light
bull DiaperwipesClorox wipes
bull Extra clothes
bull Charger for iPodsiPhone
For more information please visit
CDC Emergency Risk Communication Branch (ERCB)
Division of Emergency Operations (DEO)
Office of Public Heath Preparedness and Response (OPHPR)
The American Red Cross Get a survival kit
ldquo Are you ready An in-depth guide to citizen preparedness(Publication NoIS-22) (2004
August) Basic preparation pages 13-46
FEMA Are you ready Recovering from Disaster
FDA Registered 866-852-2337
Wersquore here to help
SleepSafe IIreg - Medium Bedwith Padding and IV Accessories
SleepSafereg - Low Bed
SleepSaferreg- High Bedoers the most safety protection with two removable safety rails
SleepSafereg Beds is domestic USA manufacturer of adaptable safety beds featuring removable safety side rails designed to virtually eliminate entrapment and falls for those with special needs The SleepSafereg bed line includes SleepSafereg SleepSafereg II and SleepSaferreg models each oering more safety rail to mattress height
SleepSafeBedcom
SleepSafe IIreg - Medium Bed in Multi-Color
SleepSaferreg- High Bedwith one safety rail removedand one safety rail rotated down
SleepSafe IIreg - Medium Bed in White
SleepSafereg Beds are built to each order oering twin or full size xed articulating or HiLo frames padding and a range of nishes SleepSafereg Beds
help those with special needs get a safe restful sleep ndash and smiles on the faces of their
caregivers who see their loved ones getting the sleep they deserve
History
Angelman Syndrome Belgium is an association
which was founded in 2011 by some parents who
have a child with the Angelman Syndrome
Aims
Our main goal is to reach the Belgium families
that have a child with the Angelman Syndrome
so we can share practical information support
each other and share as well up to date scientific
information
Activities
Yearly we organize a couple of events during
which we aim to provide a nice relaxing day for
the families Also brothers sisters and grandpa-
rents of the Angelman child are very welcome to
join on these days Our organization tries as
well to raise awareness of the angelman syndro-
me to physicians and caregivers Also scientific
research is supported by our association
FOLLOW US ON
Parents Organisation
A N G E L M A N S Y N D RO M E B E L G I U M
httpstwittercomangelmanSB httpswwwfacebookcomAngelmansyndroom wwwangelmansyndroombe Postangelmansyndroombe
Dads and Dudes with Angels By Charles De Broin from Montreal Quebec
Do we dads have it easy you say
That romantic night turns into a nine month wait for a
little miracle of life
Mom suddenly takes over and knows what to do
almost by instinct or is it the eighteen girlfriends and
her mom that make it all dizzily work
No sleep no more calm evenings to watch the game
on tv but all this is so much fun
They grow so fast and suddenly you realize
something is wrong
Mother panics dad comforts her to no avail
Doctors spin to find what it is that makes an otherwise
healthy baby not progress as the growth curve
indicates
ldquoGive it a while children grow at varying ratesrdquo the
good doctor says
Unsatisfied mom turns to every avenue and is told
that a genetic test might pinpoint the culprit that is
making our baby so different than her sister Helenrsquos
baby
The test is done and Angelman Syndrome is defined
as the source of our babyrsquos problem
The questions beginhellip ldquoWill he talk will he walk that
dream of him being a lawyer is still alive isnrsquot it will he
be able to play baseball or soccerrdquo Mom is
more rationalhellip ldquoIt doesnrsquot matter I will love him no
matter what just make those damned seizure stop
doctor pleaserdquo
The fear give way to advocacy mom is a spoke-person
for equal rights of the disabled in the school the
community and rattles parent teacher groups for
change in a system cold and oblivious to the less
fortunate Dad starts a foundation for latter years and
reluctantly accepts the defeat of not having the
brightest and strongest boy on the block
Before either of them know it their son is over 30 and
both mom and dad realize that the dream of having a
child in their lives forever has come true
He now lives in a group home but visits regularly at
home and yes mom and dad have a tag team
arrangement when their son still wakes up at 300
am ready to start his day They still visit the farm to
see his favorite horse and in the summer visit their little
country place where he can stare into a campfire and
giggle as mom and dad sing campfire song like when
he was a child
And this summerrsquos holiday spent with mom and dad
both tired and sleep deprived after a few short nights
Both looking at each other and speaking of enjoying
that unconditional lovehellip that hug at bed-time that
speaks so much of thanks and recognition
Words Of
Wisdom
Words Of Wisdom Parent Shared Experience
WHAT IS A MAPS DOCTOR
AND WHY SHOULD I HAVE ONE MAPS ndash Medical Academy of Pediatric Special Needs
Interview with Dr David Berger Wholistic Pediatrics and MAPS Physician
The Medical Academy of Pediatric Special Needs
is a group of professionals who offer a
Comprehensive Education and Fellowship to
Medical Professionals for the care of children
with Autism Spectrum Disorders and related
Chronic Complex Conditions Their mission is to
prepare medical professionals to deliver the best
possible care to children with ASD and other
special needs conditions Under the guidance of
Daniel Rossignol MD FAAFP this uniquely
designed scientific evidence-based course of
study is designed by clinicians for clinicians
MAPS Physicians are at the forefront of helping
families by thoroughly assessing and treating the
chronic conditions based on science and the needs
of each individual that can positively affect ones
quality of life
I recently had the privilege of catching up with
one of the busiest lecturing physicians of MAPS
Dr David Berger MD FAAP Dr David is a
board-certified pediatrician who specializes in
holistic pediatric primary care nutritional and
detoxification therapies
How can this approach help individuals with
Angelman Syndrome
Dr David ndash ldquoThe approach is an individualized
approach It is about Biochemistry and looking
into the body and treating the body as a whole
(The reason he named his practice Wholistic
Pediatrics and Family Care
wwwwholisticfamilycarecom) We are also
documenting that individuals with Down
Syndrome (also a genetic condition) are also
improving with Biomedical treatments so we
know that established genetics conditions can
benefit from theses treatmentsrdquo
helliphelliphelliphelliphelliphellip
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Dr David (as he is referred to by his patients) is
no stranger to Angelman Syndrome in fact he
has worked with Dr Jaime L Frias (from the
Department of Pediatrics Division of Genetics
University of Florida College of Medicine co-
author of the 1982 paper in the American
Journal of Medical Genetics on Angelman
Syndrome) he is also my son Nathanrsquos
Pediatrician
ldquoThe individualized approach is simple
Biochemistry Physiology and Anatomy
Providing practical solutions of treatment The
time spent with each patient is very important
A five minute consultation cannot treat a
patient effectively A complete evaluation is
necessary to find and correct the underlying
abnormalitiesrdquo
Many of the chronic conditions that
individuals with Angelman syndrome can be
treated for are Nutritional deficiencies
metabolic deficiencies Mitochondria
dysfunction Methylation problems
inflammation Constipationdiarrhea illness
ear infections allergies sleep disorders
seizures and more The ability to truly get
individuals healthy is what I have found with
you and MAPS Doctors These are
treatments that can be done today
ldquoYes you have just described my overall career
and the chronic conditions we treat whether it is
individuals with Autism Down Syndrome or
Angelman Syndrome The path to healing is
like a marathon I explain to my patients it is
not a sprint It is a steady process much like
lifting up the hood of a car and checking the
engine We must look inside the individual and
evaluate the intestinal track food digestion
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
FDA Registered 866-852-2337
Wersquore here to help
SleepSafe IIreg - Medium Bedwith Padding and IV Accessories
SleepSafereg - Low Bed
SleepSaferreg- High Bedoers the most safety protection with two removable safety rails
SleepSafereg Beds is domestic USA manufacturer of adaptable safety beds featuring removable safety side rails designed to virtually eliminate entrapment and falls for those with special needs The SleepSafereg bed line includes SleepSafereg SleepSafereg II and SleepSaferreg models each oering more safety rail to mattress height
SleepSafeBedcom
SleepSafe IIreg - Medium Bed in Multi-Color
SleepSaferreg- High Bedwith one safety rail removedand one safety rail rotated down
SleepSafe IIreg - Medium Bed in White
SleepSafereg Beds are built to each order oering twin or full size xed articulating or HiLo frames padding and a range of nishes SleepSafereg Beds
help those with special needs get a safe restful sleep ndash and smiles on the faces of their
caregivers who see their loved ones getting the sleep they deserve
History
Angelman Syndrome Belgium is an association
which was founded in 2011 by some parents who
have a child with the Angelman Syndrome
Aims
Our main goal is to reach the Belgium families
that have a child with the Angelman Syndrome
so we can share practical information support
each other and share as well up to date scientific
information
Activities
Yearly we organize a couple of events during
which we aim to provide a nice relaxing day for
the families Also brothers sisters and grandpa-
rents of the Angelman child are very welcome to
join on these days Our organization tries as
well to raise awareness of the angelman syndro-
me to physicians and caregivers Also scientific
research is supported by our association
FOLLOW US ON
Parents Organisation
A N G E L M A N S Y N D RO M E B E L G I U M
httpstwittercomangelmanSB httpswwwfacebookcomAngelmansyndroom wwwangelmansyndroombe Postangelmansyndroombe
Dads and Dudes with Angels By Charles De Broin from Montreal Quebec
Do we dads have it easy you say
That romantic night turns into a nine month wait for a
little miracle of life
Mom suddenly takes over and knows what to do
almost by instinct or is it the eighteen girlfriends and
her mom that make it all dizzily work
No sleep no more calm evenings to watch the game
on tv but all this is so much fun
They grow so fast and suddenly you realize
something is wrong
Mother panics dad comforts her to no avail
Doctors spin to find what it is that makes an otherwise
healthy baby not progress as the growth curve
indicates
ldquoGive it a while children grow at varying ratesrdquo the
good doctor says
Unsatisfied mom turns to every avenue and is told
that a genetic test might pinpoint the culprit that is
making our baby so different than her sister Helenrsquos
baby
The test is done and Angelman Syndrome is defined
as the source of our babyrsquos problem
The questions beginhellip ldquoWill he talk will he walk that
dream of him being a lawyer is still alive isnrsquot it will he
be able to play baseball or soccerrdquo Mom is
more rationalhellip ldquoIt doesnrsquot matter I will love him no
matter what just make those damned seizure stop
doctor pleaserdquo
The fear give way to advocacy mom is a spoke-person
for equal rights of the disabled in the school the
community and rattles parent teacher groups for
change in a system cold and oblivious to the less
fortunate Dad starts a foundation for latter years and
reluctantly accepts the defeat of not having the
brightest and strongest boy on the block
Before either of them know it their son is over 30 and
both mom and dad realize that the dream of having a
child in their lives forever has come true
He now lives in a group home but visits regularly at
home and yes mom and dad have a tag team
arrangement when their son still wakes up at 300
am ready to start his day They still visit the farm to
see his favorite horse and in the summer visit their little
country place where he can stare into a campfire and
giggle as mom and dad sing campfire song like when
he was a child
And this summerrsquos holiday spent with mom and dad
both tired and sleep deprived after a few short nights
Both looking at each other and speaking of enjoying
that unconditional lovehellip that hug at bed-time that
speaks so much of thanks and recognition
Words Of
Wisdom
Words Of Wisdom Parent Shared Experience
WHAT IS A MAPS DOCTOR
AND WHY SHOULD I HAVE ONE MAPS ndash Medical Academy of Pediatric Special Needs
Interview with Dr David Berger Wholistic Pediatrics and MAPS Physician
The Medical Academy of Pediatric Special Needs
is a group of professionals who offer a
Comprehensive Education and Fellowship to
Medical Professionals for the care of children
with Autism Spectrum Disorders and related
Chronic Complex Conditions Their mission is to
prepare medical professionals to deliver the best
possible care to children with ASD and other
special needs conditions Under the guidance of
Daniel Rossignol MD FAAFP this uniquely
designed scientific evidence-based course of
study is designed by clinicians for clinicians
MAPS Physicians are at the forefront of helping
families by thoroughly assessing and treating the
chronic conditions based on science and the needs
of each individual that can positively affect ones
quality of life
I recently had the privilege of catching up with
one of the busiest lecturing physicians of MAPS
Dr David Berger MD FAAP Dr David is a
board-certified pediatrician who specializes in
holistic pediatric primary care nutritional and
detoxification therapies
How can this approach help individuals with
Angelman Syndrome
Dr David ndash ldquoThe approach is an individualized
approach It is about Biochemistry and looking
into the body and treating the body as a whole
(The reason he named his practice Wholistic
Pediatrics and Family Care
wwwwholisticfamilycarecom) We are also
documenting that individuals with Down
Syndrome (also a genetic condition) are also
improving with Biomedical treatments so we
know that established genetics conditions can
benefit from theses treatmentsrdquo
helliphelliphelliphelliphelliphellip
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Dr David (as he is referred to by his patients) is
no stranger to Angelman Syndrome in fact he
has worked with Dr Jaime L Frias (from the
Department of Pediatrics Division of Genetics
University of Florida College of Medicine co-
author of the 1982 paper in the American
Journal of Medical Genetics on Angelman
Syndrome) he is also my son Nathanrsquos
Pediatrician
ldquoThe individualized approach is simple
Biochemistry Physiology and Anatomy
Providing practical solutions of treatment The
time spent with each patient is very important
A five minute consultation cannot treat a
patient effectively A complete evaluation is
necessary to find and correct the underlying
abnormalitiesrdquo
Many of the chronic conditions that
individuals with Angelman syndrome can be
treated for are Nutritional deficiencies
metabolic deficiencies Mitochondria
dysfunction Methylation problems
inflammation Constipationdiarrhea illness
ear infections allergies sleep disorders
seizures and more The ability to truly get
individuals healthy is what I have found with
you and MAPS Doctors These are
treatments that can be done today
ldquoYes you have just described my overall career
and the chronic conditions we treat whether it is
individuals with Autism Down Syndrome or
Angelman Syndrome The path to healing is
like a marathon I explain to my patients it is
not a sprint It is a steady process much like
lifting up the hood of a car and checking the
engine We must look inside the individual and
evaluate the intestinal track food digestion
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
History
Angelman Syndrome Belgium is an association
which was founded in 2011 by some parents who
have a child with the Angelman Syndrome
Aims
Our main goal is to reach the Belgium families
that have a child with the Angelman Syndrome
so we can share practical information support
each other and share as well up to date scientific
information
Activities
Yearly we organize a couple of events during
which we aim to provide a nice relaxing day for
the families Also brothers sisters and grandpa-
rents of the Angelman child are very welcome to
join on these days Our organization tries as
well to raise awareness of the angelman syndro-
me to physicians and caregivers Also scientific
research is supported by our association
FOLLOW US ON
Parents Organisation
A N G E L M A N S Y N D RO M E B E L G I U M
httpstwittercomangelmanSB httpswwwfacebookcomAngelmansyndroom wwwangelmansyndroombe Postangelmansyndroombe
Dads and Dudes with Angels By Charles De Broin from Montreal Quebec
Do we dads have it easy you say
That romantic night turns into a nine month wait for a
little miracle of life
Mom suddenly takes over and knows what to do
almost by instinct or is it the eighteen girlfriends and
her mom that make it all dizzily work
No sleep no more calm evenings to watch the game
on tv but all this is so much fun
They grow so fast and suddenly you realize
something is wrong
Mother panics dad comforts her to no avail
Doctors spin to find what it is that makes an otherwise
healthy baby not progress as the growth curve
indicates
ldquoGive it a while children grow at varying ratesrdquo the
good doctor says
Unsatisfied mom turns to every avenue and is told
that a genetic test might pinpoint the culprit that is
making our baby so different than her sister Helenrsquos
baby
The test is done and Angelman Syndrome is defined
as the source of our babyrsquos problem
The questions beginhellip ldquoWill he talk will he walk that
dream of him being a lawyer is still alive isnrsquot it will he
be able to play baseball or soccerrdquo Mom is
more rationalhellip ldquoIt doesnrsquot matter I will love him no
matter what just make those damned seizure stop
doctor pleaserdquo
The fear give way to advocacy mom is a spoke-person
for equal rights of the disabled in the school the
community and rattles parent teacher groups for
change in a system cold and oblivious to the less
fortunate Dad starts a foundation for latter years and
reluctantly accepts the defeat of not having the
brightest and strongest boy on the block
Before either of them know it their son is over 30 and
both mom and dad realize that the dream of having a
child in their lives forever has come true
He now lives in a group home but visits regularly at
home and yes mom and dad have a tag team
arrangement when their son still wakes up at 300
am ready to start his day They still visit the farm to
see his favorite horse and in the summer visit their little
country place where he can stare into a campfire and
giggle as mom and dad sing campfire song like when
he was a child
And this summerrsquos holiday spent with mom and dad
both tired and sleep deprived after a few short nights
Both looking at each other and speaking of enjoying
that unconditional lovehellip that hug at bed-time that
speaks so much of thanks and recognition
Words Of
Wisdom
Words Of Wisdom Parent Shared Experience
WHAT IS A MAPS DOCTOR
AND WHY SHOULD I HAVE ONE MAPS ndash Medical Academy of Pediatric Special Needs
Interview with Dr David Berger Wholistic Pediatrics and MAPS Physician
The Medical Academy of Pediatric Special Needs
is a group of professionals who offer a
Comprehensive Education and Fellowship to
Medical Professionals for the care of children
with Autism Spectrum Disorders and related
Chronic Complex Conditions Their mission is to
prepare medical professionals to deliver the best
possible care to children with ASD and other
special needs conditions Under the guidance of
Daniel Rossignol MD FAAFP this uniquely
designed scientific evidence-based course of
study is designed by clinicians for clinicians
MAPS Physicians are at the forefront of helping
families by thoroughly assessing and treating the
chronic conditions based on science and the needs
of each individual that can positively affect ones
quality of life
I recently had the privilege of catching up with
one of the busiest lecturing physicians of MAPS
Dr David Berger MD FAAP Dr David is a
board-certified pediatrician who specializes in
holistic pediatric primary care nutritional and
detoxification therapies
How can this approach help individuals with
Angelman Syndrome
Dr David ndash ldquoThe approach is an individualized
approach It is about Biochemistry and looking
into the body and treating the body as a whole
(The reason he named his practice Wholistic
Pediatrics and Family Care
wwwwholisticfamilycarecom) We are also
documenting that individuals with Down
Syndrome (also a genetic condition) are also
improving with Biomedical treatments so we
know that established genetics conditions can
benefit from theses treatmentsrdquo
helliphelliphelliphelliphelliphellip
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Dr David (as he is referred to by his patients) is
no stranger to Angelman Syndrome in fact he
has worked with Dr Jaime L Frias (from the
Department of Pediatrics Division of Genetics
University of Florida College of Medicine co-
author of the 1982 paper in the American
Journal of Medical Genetics on Angelman
Syndrome) he is also my son Nathanrsquos
Pediatrician
ldquoThe individualized approach is simple
Biochemistry Physiology and Anatomy
Providing practical solutions of treatment The
time spent with each patient is very important
A five minute consultation cannot treat a
patient effectively A complete evaluation is
necessary to find and correct the underlying
abnormalitiesrdquo
Many of the chronic conditions that
individuals with Angelman syndrome can be
treated for are Nutritional deficiencies
metabolic deficiencies Mitochondria
dysfunction Methylation problems
inflammation Constipationdiarrhea illness
ear infections allergies sleep disorders
seizures and more The ability to truly get
individuals healthy is what I have found with
you and MAPS Doctors These are
treatments that can be done today
ldquoYes you have just described my overall career
and the chronic conditions we treat whether it is
individuals with Autism Down Syndrome or
Angelman Syndrome The path to healing is
like a marathon I explain to my patients it is
not a sprint It is a steady process much like
lifting up the hood of a car and checking the
engine We must look inside the individual and
evaluate the intestinal track food digestion
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Dads and Dudes with Angels By Charles De Broin from Montreal Quebec
Do we dads have it easy you say
That romantic night turns into a nine month wait for a
little miracle of life
Mom suddenly takes over and knows what to do
almost by instinct or is it the eighteen girlfriends and
her mom that make it all dizzily work
No sleep no more calm evenings to watch the game
on tv but all this is so much fun
They grow so fast and suddenly you realize
something is wrong
Mother panics dad comforts her to no avail
Doctors spin to find what it is that makes an otherwise
healthy baby not progress as the growth curve
indicates
ldquoGive it a while children grow at varying ratesrdquo the
good doctor says
Unsatisfied mom turns to every avenue and is told
that a genetic test might pinpoint the culprit that is
making our baby so different than her sister Helenrsquos
baby
The test is done and Angelman Syndrome is defined
as the source of our babyrsquos problem
The questions beginhellip ldquoWill he talk will he walk that
dream of him being a lawyer is still alive isnrsquot it will he
be able to play baseball or soccerrdquo Mom is
more rationalhellip ldquoIt doesnrsquot matter I will love him no
matter what just make those damned seizure stop
doctor pleaserdquo
The fear give way to advocacy mom is a spoke-person
for equal rights of the disabled in the school the
community and rattles parent teacher groups for
change in a system cold and oblivious to the less
fortunate Dad starts a foundation for latter years and
reluctantly accepts the defeat of not having the
brightest and strongest boy on the block
Before either of them know it their son is over 30 and
both mom and dad realize that the dream of having a
child in their lives forever has come true
He now lives in a group home but visits regularly at
home and yes mom and dad have a tag team
arrangement when their son still wakes up at 300
am ready to start his day They still visit the farm to
see his favorite horse and in the summer visit their little
country place where he can stare into a campfire and
giggle as mom and dad sing campfire song like when
he was a child
And this summerrsquos holiday spent with mom and dad
both tired and sleep deprived after a few short nights
Both looking at each other and speaking of enjoying
that unconditional lovehellip that hug at bed-time that
speaks so much of thanks and recognition
Words Of
Wisdom
Words Of Wisdom Parent Shared Experience
WHAT IS A MAPS DOCTOR
AND WHY SHOULD I HAVE ONE MAPS ndash Medical Academy of Pediatric Special Needs
Interview with Dr David Berger Wholistic Pediatrics and MAPS Physician
The Medical Academy of Pediatric Special Needs
is a group of professionals who offer a
Comprehensive Education and Fellowship to
Medical Professionals for the care of children
with Autism Spectrum Disorders and related
Chronic Complex Conditions Their mission is to
prepare medical professionals to deliver the best
possible care to children with ASD and other
special needs conditions Under the guidance of
Daniel Rossignol MD FAAFP this uniquely
designed scientific evidence-based course of
study is designed by clinicians for clinicians
MAPS Physicians are at the forefront of helping
families by thoroughly assessing and treating the
chronic conditions based on science and the needs
of each individual that can positively affect ones
quality of life
I recently had the privilege of catching up with
one of the busiest lecturing physicians of MAPS
Dr David Berger MD FAAP Dr David is a
board-certified pediatrician who specializes in
holistic pediatric primary care nutritional and
detoxification therapies
How can this approach help individuals with
Angelman Syndrome
Dr David ndash ldquoThe approach is an individualized
approach It is about Biochemistry and looking
into the body and treating the body as a whole
(The reason he named his practice Wholistic
Pediatrics and Family Care
wwwwholisticfamilycarecom) We are also
documenting that individuals with Down
Syndrome (also a genetic condition) are also
improving with Biomedical treatments so we
know that established genetics conditions can
benefit from theses treatmentsrdquo
helliphelliphelliphelliphelliphellip
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Dr David (as he is referred to by his patients) is
no stranger to Angelman Syndrome in fact he
has worked with Dr Jaime L Frias (from the
Department of Pediatrics Division of Genetics
University of Florida College of Medicine co-
author of the 1982 paper in the American
Journal of Medical Genetics on Angelman
Syndrome) he is also my son Nathanrsquos
Pediatrician
ldquoThe individualized approach is simple
Biochemistry Physiology and Anatomy
Providing practical solutions of treatment The
time spent with each patient is very important
A five minute consultation cannot treat a
patient effectively A complete evaluation is
necessary to find and correct the underlying
abnormalitiesrdquo
Many of the chronic conditions that
individuals with Angelman syndrome can be
treated for are Nutritional deficiencies
metabolic deficiencies Mitochondria
dysfunction Methylation problems
inflammation Constipationdiarrhea illness
ear infections allergies sleep disorders
seizures and more The ability to truly get
individuals healthy is what I have found with
you and MAPS Doctors These are
treatments that can be done today
ldquoYes you have just described my overall career
and the chronic conditions we treat whether it is
individuals with Autism Down Syndrome or
Angelman Syndrome The path to healing is
like a marathon I explain to my patients it is
not a sprint It is a steady process much like
lifting up the hood of a car and checking the
engine We must look inside the individual and
evaluate the intestinal track food digestion
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
WHAT IS A MAPS DOCTOR
AND WHY SHOULD I HAVE ONE MAPS ndash Medical Academy of Pediatric Special Needs
Interview with Dr David Berger Wholistic Pediatrics and MAPS Physician
The Medical Academy of Pediatric Special Needs
is a group of professionals who offer a
Comprehensive Education and Fellowship to
Medical Professionals for the care of children
with Autism Spectrum Disorders and related
Chronic Complex Conditions Their mission is to
prepare medical professionals to deliver the best
possible care to children with ASD and other
special needs conditions Under the guidance of
Daniel Rossignol MD FAAFP this uniquely
designed scientific evidence-based course of
study is designed by clinicians for clinicians
MAPS Physicians are at the forefront of helping
families by thoroughly assessing and treating the
chronic conditions based on science and the needs
of each individual that can positively affect ones
quality of life
I recently had the privilege of catching up with
one of the busiest lecturing physicians of MAPS
Dr David Berger MD FAAP Dr David is a
board-certified pediatrician who specializes in
holistic pediatric primary care nutritional and
detoxification therapies
How can this approach help individuals with
Angelman Syndrome
Dr David ndash ldquoThe approach is an individualized
approach It is about Biochemistry and looking
into the body and treating the body as a whole
(The reason he named his practice Wholistic
Pediatrics and Family Care
wwwwholisticfamilycarecom) We are also
documenting that individuals with Down
Syndrome (also a genetic condition) are also
improving with Biomedical treatments so we
know that established genetics conditions can
benefit from theses treatmentsrdquo
helliphelliphelliphelliphelliphellip
helliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphelliphellip
Dr David (as he is referred to by his patients) is
no stranger to Angelman Syndrome in fact he
has worked with Dr Jaime L Frias (from the
Department of Pediatrics Division of Genetics
University of Florida College of Medicine co-
author of the 1982 paper in the American
Journal of Medical Genetics on Angelman
Syndrome) he is also my son Nathanrsquos
Pediatrician
ldquoThe individualized approach is simple
Biochemistry Physiology and Anatomy
Providing practical solutions of treatment The
time spent with each patient is very important
A five minute consultation cannot treat a
patient effectively A complete evaluation is
necessary to find and correct the underlying
abnormalitiesrdquo
Many of the chronic conditions that
individuals with Angelman syndrome can be
treated for are Nutritional deficiencies
metabolic deficiencies Mitochondria
dysfunction Methylation problems
inflammation Constipationdiarrhea illness
ear infections allergies sleep disorders
seizures and more The ability to truly get
individuals healthy is what I have found with
you and MAPS Doctors These are
treatments that can be done today
ldquoYes you have just described my overall career
and the chronic conditions we treat whether it is
individuals with Autism Down Syndrome or
Angelman Syndrome The path to healing is
like a marathon I explain to my patients it is
not a sprint It is a steady process much like
lifting up the hood of a car and checking the
engine We must look inside the individual and
evaluate the intestinal track food digestion
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
immune system vitaminmineral deficiency and
toxicity Some of these tests can be run by regular
labs but other tests require more specialized labs
Most mainstream doctors do not do these tests
Getting to the cause and correcting the problem is
the goal The individualized approach helps us do
that Treatments often include dietary changes
nutritional supplements and medications MAPS
will ensure that physicians meet a certain standard
so parents can be assured they are receiving
evidence-based information for their childrdquo
Dr Berger is a Board Certified
Pediatrician who specializes in
holistic primary care nutritional
and detoxification therapies for
autism ADHD and related
disorders and immune
dysregulation such as allergies asthma and
autoimmune disorders He sees children and adults
with these medical conditions
In addition Dr Berger works with women and men
who wish to do preconception and prenatal counseling
testing and treatments to try and optimize the health of
the pregnancy and baby
He graduated from The Medical College of
Pennsylvania in 1994 and did his Pediatric Residency
at the University of South Florida He started using
holistic therapies at the Tampa General HospitalUSF
Pediatric Clinic during his residency He has served as
the team doctor for Tampa Catholic High School the
Medical Director for a summer camp run by the Tampa
AIDS Network and the Medical Liaison for the Palm
Beach County Breast Feeding Task Force He has been
in private practice since 1997 and in 2005 he opened
Wholistic Pediatrics in Tampa Florida Dr Berger has
been an advanced practitioner of biomedical therapies
advocating the Autism Research Institute philosophy
since 1999 In 2010 Dr Berger was appointed the
position of Assistant Professor at the University of
South Florida College of Nursing and in 2011 he
became Vice President of the Medical Academy of
Pediatric Special Needs
Wholistic Pediatrics and Family Care
3341 W Bearss Avenue
Tampa FL 33618
Tel 813-960-3415
Email infowholisticpedscom
Website wwwwholisticfamilycarecom
MAPS ndash Medical Academy of
Pediatric Special Needs
wwwmedmapsorg
Locate a MAPS Practitioner at wwwmedmapsorgclinician-directory
Parents seek out MAPS professionals
becausehellip
They know their child is being well cared for
by well versed and educated medical
professionals at the top in their field
MAPS Trained Medical Professionals have
undergone intensive CME coursework based
on scientific research to address and treat the
medical issues related to Autism and other
related disorders
MAPS welcomes MD DO ND PA NP RN amp LPN
Refer your medical professionals to a MAPS
Clinicianrsquos Training Course
For more information
The Medical Academy
of Pediatric Special Needs
16251 Laguna Canyon Rd Ste 175
Irvine CA 92618
Toll Free 8554474200
Tel 3072131400
Fax 3072131401
Email inquirymedmapsorg
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
THERAsurf is an amazing organization My son Finn thoroughly enjoyed his surf experience - he spent the
entire time grinning and giggling with utter joy But the real gift of THERAsurf is much more important than one wonderful day - watching from the beach as one of the surfers paddles out into the ocean with your child and then catches a wave is the most awe-inspiring and emotional experience imaginable With each wave barriers and limitations given by doctors are smashed and you are left with the realization that given proper support the opportunities and possibilities for your child are endless Thank you THERAsurf for a life-changing experienceldquo --Tina Thompson
We help children and their families access the stoke of surf culture and aspire to create a can-do
environment in a world full of limitations
wwwtherasurforg
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Epilepsy Awareness
November is Epilepsy Awareness Month
Did you know
-1 in 10 people in the US have had a seizure
-The majority of individuals with Angelman Syndrome have Epilepsy
For more info visit
wwwepilepsyfoundationorg
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
The Most
Gift Guide
-Two Winners will receive 2 Sleepers of their choice
-Two Winners will receive 2 Zip Bibs
Enter online at wwwangelmantodaycategorycontests
Finger paint
gift - set
Water Table
Discovery digital camera
Apple iPad
Safety First Trampoline
Wooden Bead Maze
Nabi
Weehoo iGo Bicycle trailer
Click images
amp shop
Amazon
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
ldquoOh no this canrsquot
be happeningrdquo was the thought than ran through
our minds when our triplets were
toddlers and going through a phase
of taking off their sleepers and
diapers With another daughter
only twenty-two months older a
dog and a busy household we did
not want to be spending our days
changing sheets and cleaning
messes Instead we tried to find a
solution to keeping our children
clothed at naptime and throughout
the night We found no solutions
that we thought were safe and
practical and that was how the idea
of the Little Keeper Sleepers was
born
Some parents refer to the Little
Keeper Sleepers as ldquosanity
saversrdquo ldquolife saversrdquo and ldquothe
reason they can sleep againrdquo
We just know they help people
and wersquore happy to be a part of
that
After many design changes we
finally concluded that we needed
the features of a non-stretchable
neck and two snap closure
systems one that covers the zipper
and one that completely prevents
the zipper from being pulled down
by the child This makes removal
extremely difficult for children
yet easy for caregivers to get on
and off We chose a 100 soft
interlock cotton that would be
comfortable and a neutral color
that could be worn by both boys
and girls
As we started selling on-line
customers started asking us for
larger sizes They would tell us
their stories about how their
children with Autism Angelman
Syndrome Aspergerrsquos and other
special needs also did the behavior
of ldquobrown partiesrdquo and lots of
other interesting ways of
describing it We truly listen to our
customer feedback
Parents were desperate for something
to keep their childrsquos sleepers on at
night We discovered that these
sleepers were incredibly helpful to
parents who have children with
special needs As a result we have
expanded from the single version of
the Little Keeper Sleeper with long
sleevelong pants to now include
sleepers with short sleeves sleepers
with footies three different color
choices and sizes up to 1112 which
will fit a child over five feet tall Our
business not only has expanded with
the sleepers but we also created a bib
that toddlers cannot take off using the
same concept as the sleepers The Zip
Bibs feature a cute bear are unisex
and are primarily for babies amp
toddlers
Although we only sell the sleepers amp
bibs via our website at this time they
have been shipped to almost every
continent (come on Antarctica) Sleep
consultants as well as hospitals have
contacted us to use these with their
patients We have been involved in
blog giveaways and fundraisers
including the FAST Gala for
Angelman Syndrome
What we love the most is hearing from
many of our customers after they have
had the sleepers for a
while Comments such as ldquoItrsquos the
ONLY sleeper my grandson cannot
get out of THANK YOU for making
our lives a little easierrdquo ldquoWhat a
wonderful blessing your sleepers have
been They are soft amp comfortable
and my daughter keeps them on all
night and we are all getting a good
nightrsquos restrdquo The reduction in the
amount of laundry has been a nice
bonus toordquo
To Save 5 on your order
enter code LKSAT wwwlittlekeepersleepercom
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Products We Like
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Recipe
- frac14 cup grated apple - I use the cheese grater
- Mix with one egg and one tsp of hazelnut flour
- Make two small cakes and fry in coconut oil for about 5
minutes
- Prepare whipped cream with a drop of stevia
- Layer the cream between the apple cakes and decorated
with a 1tbs of blueberries amp Enjoy
LGIT Apple Surprise Sweet Treat for the Holiday Season
By Sybille Kraft Bellamy
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
thank you for your support this yearOur Incredible Supporters
The time energy and immense support that hundreds of individuals have committed to the Angelman syndrome community through the Angelman Syndrome Foundation reached impeccable heights during this past year Fundraising and awareness-raising efforts introduced the Angelman syndrome community to thousands of new supporters thanks to the dedication and efforts of volunteers donors and AS families across the country The Angelman Syndrome Foundation is deeply grateful for the efforts of each and every volunteer donor and supporter and would like to publicly recognize and thank a few very special individuals for their tremendous investment of time and support
All Walkers Volunteers and Supporters ASF National WalkThe 11700 individuals who attended the 2013 National Walk and raised more than $1 million made the Angelman Syndrome Foundationrsquos recent $125 million investment in Angelman syndrome research possible Those participating in the 29 National Walk sites across the country worked tirelessly to fundraise in their communities and it is making a true impact within the Angelman syndrome community THANK YOU to everyone who participated and made the 2013 National Walk a tremendous success
Danny Fisher Kick for a CureThe 2013 football season brought a whole new level of meaning to the Bloomsburg University Huskies and the Angelman syndrome community Inspired by family friend Brianna Rehm who has Angelman syndrome Danny Fishermdasha record-breaking kicker for the Huskiesmdashlaunched the Kick for a Cure campaign where he encouraged his fans and community to support the Angelman Syndrome Foundation Supporters were asked to use Dannyrsquos jersey number 97 as inspiration to make a one-time $97 donation or $970 for each field goal kicked this season To date Danny has raised more than $3500mdashfar exceeding his original fundraising goalmdashin support of Angelman syndrome research
The Olsenrsquos Tractor Cruise and Sports CampsFor the past nine years the Olsen FamilymdashKeith Denise and their childrenmdashhas hosted an annual Tractor Cruise fundraiser in support of individuals with Angelman syndrome The 2013 Tractor Cruise was their most successful yet More than 50 tractors attended with one supporter traveling more than 160 miles (one way) to participate The tractors proceeded along the cruise route raising awareness about Angelman syndrome throughout the entire Horton Kansas community and then ended at the Olsenrsquos for a good lsquool fashioned party The Olsenrsquos also hosted summer sports camps to raise additional funds resulting in a grand total of more than $6000 from supporters
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
thank you for your support this year
The Rossettirsquos and Granatarsquos Windy City ThunderboltsSue and Jeff Rossetti and Dawn and Rich Granata and their families hosted a minor league baseball game in Tinley Park Illinois featuring tailgating raffles and fun activities for folks of all ages in July 2013 A high-energy and creative event it raised nearly $6000 for Angelman syndrome research and brought in even more grassroots support for the Angelman syndrome community
Mary Wagstaff and Susan Ravellette Get Frenchy with Gail SimmonsMary Wagstaff an ASF Board member and sister to the late Dr Joseph Wagstaff one of the Angelman syndrome
communityrsquos most revered clinicians and researchers hosted a fundraising event in partnership with ASF Board member Susan Ravellette in Los Angeles to raise funds for the Angelman Syndrome Foundationrsquos Joseph E Wagstaff Postdoctoral Fellowship The Fellowship awards funds to a young budding researcher who is pursuing Angelman syndrome research as a career Celebrity chefs and large donors from the greater Los Angeles area attended the event which featured French-themed cuisine and decor The event was a tremendous success raising more than $28000 and helps support continued funding for the Wagstaff
Fellowship and future Angelman syndrome research
Sarah Delmotte 5K for a CureIn September Angelman Syndrome Foundation supportermdashand sister to an individual with Angelman syndromemdashSarah Delmotte hosted a 5k in Newark Delaware to raise funds and awareness for Angelman syndrome The 5k raised $1500 in donations for the Angelman Syndrome Foundation and raised awareness throughout the greater Newark area We are incredible grateful for Sarahrsquos tenacity enthusiasm and efforts in organizing this event
Penny Jusko Madonna JamPenny Juskorsquos daughter Madonna is diagnosed with Angelman syndrome and this is the second year that Penny has hosted the Madonna Jam benefit concert in Cincinnati Ohio Featuring performers covering a range of genres the concert was attended by hundreds of supporters from the greater Cincinnati area raising more than $2750 in support of individuals with Angelman syndrome and Fragile X Syndrome Many thanks to Penny and everyone involved with Madonna Jam for advancing the Angelman syndrome community through your efforts
Angelique Tuthill Elks Lodge FundraiserAngelique Tuthill whose son has Angelman syndrome hosted an event in Middletown NY at Elks Lodge 1097 She and supporters from the Elks Lodge raised more than $4500 in support of individuals with Angelman syndrome and greatly expanded awareness of Angelman syndrome in the Middletown community
Rand
all M
iche
lson
Pho
togr
aphy
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Itrsquos not just about getting through
and surviving the holidays we all
want to truly enjoy our time with
family and friends How do we
balance all that we think we need
or want to do and still enjoy the
holidays We hope these holiday
tips will help to keep you a little
more relaxed and less stressed
this holiday season
Have a plan and set realistic
expectations
Decide what is important to you
and your immediate family The
ldquoHallmarkrdquo holiday we see on TV
in reality most likely does not exist
Be selective and choose those
invitations that are most important
and special to you and your family
Perhaps celebrating the actual
holiday with just your immediate
family is just the ticket to keep the
special holiday more manageable
and less stressful and other family
and friend events can be attended
outside of the immediate holiday
Try keeping the guest list to a
manageable minimum so the day
doesnrsquot become overwhelming for
everyone Try a few small
gatherings on different days rather
than one large overwhelming
gathering
You know your childrsquos stressors
triggers and anxiety points so
remember to be a good observer
and head things off before they
get to the point of no return
Donrsquot be reluctant to be the last
ones to show up (just call ahead if
you are running really late) and it is
fine to be the first ones to say
thanks for the eggnog and
goodbye if that will help make
your visit more enjoyable
Watch for subtle escalating
non-verbal cues your child is
communicating to you and others
that she is becoming anxious
andor overwhelmed Intervene
with a break or calm quiet
private relaxation time and ask
your individual when she is
ready to join the gathering again
and honor herhis request
Donrsquot forget your routine
Our children typically do best
with structure and routine
Cookies and milk may well be a
part of the holiday season but
eating well getting enough rest
and sticking to routines will help
everyone in your family enjoy
the holidays Donrsquot let these
routines get away from you
completely as they will be
harder to re-establish once the
holiday season is done
Itrsquos OK to take a break
If you are hosting people at your
home and your child is feeling
overwhelmed or is in need of
some time alone make sure she
has a safe place for some quiet
down time When you are
visiting friends and family talk
with the hosts and identify a
quiet space where your child and
you can ldquoescaperdquo when she is
feeling overwhelmed or in need
of some quiet or alone time Also
be sure to ask about any house
rules (like no food in the
bedrooms) that will make the
visit less stressful for all
Clothes dont make the child
If your child is sensitive to
certain types of clothes or just
stubbornly insists on wearing
something you (or you suspect
someone else) will find
inappropriate dont pick a battle
with all of the other potential
stressors during the holiday
season While eyebrows may
raise if your child isnrsquot dressed to
the nines the goal is to start your
child out with as low a stress
level as possible Fussing over
clothes or putting her or him in
clothes that you know will cause
anxiety is a tough way to start
Augment the menu
Whether youre bringing a little
something to someone elses
gathering or planning the
gathering in your own home
make sure there are a variety of
items your child will enjoy
eating especially if your child is
on a special diet such as the
LGIT The goal of the day isnt
cleaning your plate or trying new
foods or pleasing the cook Its
making sure your child is well-
nourished sticking to herhis
diet and more importantly its
about giving thanks for the good
things in our lives
Tips for Managing Holiday Stress
By Eileen Braun Executive Director of the Angelman Syndrome
Foundation and mother to a young lady with Angelman syndrome
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Remain calm
Memorize this phrase and repeat it
over and over in your head
whenever you feel yourself losing
your cool I do not have to
apologize for being a good parent to
my child We may struggle under
the weight of advice or
disapproval from family members
but our kids dont care about that
They need what they need You
know best what your child needs
and providing it is your most
important responsibility no
arguments Since most children with
special needs react poorly to stress
in their environment particularly
stressed-out parents staying relaxed
and low-key is one of the best things
you can do to keep your childs
behavior in line You can always
throw a tantrum when you get
home
No martyrs here
Donrsquot be afraid to ask for help or
ask for a breakmdasheven if it is for 15
minutes or a couple of hours Ask a
friend or relative who understands
and is familiar with your child to
keep an eye out and engage her or
him regularly If you can line up a
few people to take turns nobody
will miss too much socializing time
Itrsquos not about things being perfect it
is about time well-spent with those
we care about and love
Give plenty of praise
If your child is doing a great job
handling party stress give her or
him lots of positive reinforcement
Compliments high-fives and hugs
go a long way toward keeping good
behavior coming A happy child
makes for a happy party and thats a
pretty good goal
What to do about gifts
If you are like many families you
have a house full of toys from
relatives that your child has no
interest in playing So how do we
get our families to purchase gifts our
children are sure to enjoy Point
your family in the right direction by
creating a list of items and email it to
your relatives along with the link to the
store and the product number Make it
as easy as possible to purchase the
item Look at toy catalogs from the
perspective of your childrsquos strengths
and challenges What toys seem
visually stimulating What toys have a
hands-on tactile look to them What
games promote word recall What
games include player interaction What
games help foster conversation
As our children get older the challenge
is that the things that once interested
them no longer domdashand that is a good
thing because they are growing and
maturing and developing new skills
and interests Remember too that it is
not the quantity or equality of the gifts
but finding those gifts that are most
meaningful to our children with
Angelman syndrome Perhaps a special
holiday pillow comfy blanket special
cuddly sweatshirt or item that your
individual can identify with will have
particular significance and meaning for
her and will quickly become a favorite
treasured gift that reminds her of this
special holiday
Gift Giving Time
Any one or more of these scenarios
may describe your child with
Angelman syndrome Here are a few
helpful hints if
~Your child is unable to open presents
Relatives love the excitement of seeing
the youngsters open their presents but
your child is unable to do so Earlier in
the day before the melee of gift giving
starts you might ask each relative to
spend time with your child and open
the present for him
This will be more meaningful for
both your child and relative
~Your child is uninterested in
opening presents
Even if you open the presents for
your child he doesnrsquot acknowledge
that they are there What do you do
Open the presents at home Your
family might be disappointed but
tell them that he is so interested in
everything else that he just canrsquot
focus on the presents Tell them that
he will enjoy opening and playing
with his gifts in the quiet of his
home
~Your child is interested in
unwrapping presents but not the
gift
For your child itrsquos all about ripping
the wrapping paper He doesnrsquot
even pay attention to the toy Take
note of who gave which present
On a later day when your child
plays with his toy take a picture to
send to the relative to say thanks
Another suggestion is to ask some
relatives ahead of time if your child
can help open their presents Your
child can look forward to Grandma
inviting him to open the presents for
her
~Your child focuses on one present
Your child has a mound of presents
but stops after opening the second
present Let him open his presents
at his own speed You might end up
taking half of the gifts home with
the wrapping still on them and
thatrsquos okay Let him open the rest
the next day
~Your child is overwhelmed at
everyone opening presents
Your child may be overwhelmed by
the chaos of everyone talking at
once and tearing the wrapping
paper off their presents If this
sounds like your child itrsquos okay to
go to another room and watch a
holiday TV show while the rest of
the family opens presents Another
suggestion is earlier in the day have
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
wwwAngelmanorg (800) 432-6435 Intrsquol (630) 978-4245 infoangelmanorg
Sharing the PSA with your networksmdashand asking
your friends family neighbors and colleagues to
share the message with their networksmdashis essential
to this campaign With your help in spreading the
word we can ensure a more timely diagnosis for our
loved ones with Angelman syndrome You can share
the PSA from the ASFrsquos Facebook page or website
Your Support Makes Our Work PossibleIt is because of your support that the Angelman Syndrome Foundation is able to invest millions in promising research and provide essential support services for individuals with Angelman syndrome and their families The end of the year is the perfect time to show your support and invest in Angelman syndrome research and family support services by making a tax-deductible donation to the Angelman Syndrome Foundation THANK YOU for your ongoing support of the Angelman syndrome community and stay tuned for more information about how you can support Angelman syndrome families and research
Calendar of Angels The 2014 Calendar of Angels will soon be available for purchase Share the spirit of love this season by giving your friends family and loved ones the Calendar of Angels as a gift The calendar features individuals with Angelman syndrome and proceeds from calendar purchases directly benefit the Angelman Syndrome Foundation Order yours today
Combatting MisdiagnosisDue to the Angelman syndrome communityrsquos support and that of several media partners the Angelman Syndrome Foundation launched a public service campaign aimed at reducing the rate of misdiagnosis of individuals with Angelman syndrome Nearly 50 percent of individuals with Angelman syndrome were originally misdiagnosed with an incorrect disorder prior to obtaining the proper diagnosis of Angelman syndrome This is unacceptable so the Angelman Syndrome Foundation created a campaign to raise awareness of Angelman syndrome and its symptoms among the general population specifically parents through development of 30-second and 60-second public service announcements (PSA) Thanks to the support of Time Warner Cable and numerous independent television stations across the country the PSA is airing nationally and in large media markets that span the country
The Angelman Syndrome Foundation is incredibly appreciative of the families who participated in the making of the PSA and of the Angelman syndrome community for supporting the PSA
2013Calendar
ofANGELS
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Tips for Managing Holiday Stress
continuedhellip
your child at her leisure present
each relative with a gift Your
relative may also decide to give
her present to your child at this
time Now your child can give
and receive a gift in a relaxed
atmosphere In a half hour go to
another relative and do the same
Special Tips for
Travelling Families
Medications and Medical
Records
Gather your childrsquos medications
and a copy of his or her medical
records Make sure you have
enough refills for the length of
trip and a few days extra in case
of inclement weather
Medical Equipment
If you are traveling with medical
equipment such as a wheelchair
or oxygen make sure to visit the
TSArsquos web pages on medical
devices and Assistive Devices
and Mobility Aids These pages
will be very helpful in guiding
you through security at your
local airport Call your departing
and arriving airport to find out
what guidelines they may have
Upon arrival some of your
checked medical equipment may
be offloaded at a special baggage
claim
You may also need to contact
your airline (by phone or web) to
find out how they handle medical
devices that are carried on board
or checked in
In Case of Emergency
In case of emergency make sure
you find a doctor at your
destination that will be able to
provide temporary care Ask your
pediatrician for a referral Safety ndash
Wandering Individual
If your child is a wanderer
consider a temporary tattoo
httpwwwtattooswithapurposec
om or purchasing a child tracking
device before you travel
httpwwwlok8ucom In case
your child becomes lost it is
helpful to have a recent photo and
a written description of
your childrsquos special needs (Will
she respond to her name Will he
run away from strangers)
Before You Head to the Airport
Call the TSA
The TSA has a helpline for
individuals with special needs
Call TSA Cares Travelers may
call 1-855-787-2227 prior to
traveling with questions about
screening policies procedures
and what to expect at the security
checkpoint When a passenger
with a disability or medical
condition calls TSA Cares a
representative will provide
assistance either with
information about screening that
is relevant to the passengerrsquos
specific disability or medical
condition or the passenger may
be referred to disability experts
at TSA TSA recommends that
passengers call approximately
72 hours ahead of travel so that
TSA Cares has the opportunity
to coordinate checkpoint
support with a TSA Customer
Service Manager located at the
airport when necessary
Small Bills
Whether itrsquos the taxi airport
shuttle driver or the skycap
make sure to get all the help
you can Bring plenty of small
bills to tip anyone who is
helping you out
Check-In at Home
Donrsquot wait in another line at the
airport Print your boarding
pass at home or check-in via
your smart phone Save
yourself the hassle
Have a backup plan
Weather mechanical issues
missed connections or late
arriving flights can wreak
havoc on your carefully laid
plans Make sure you make
plans for a one hour delay
multiple hour delay or a
complete cancellation Have a
social story ready that will
visually tell your child about
the delay and what may happen
next
Take a deep breath and smile
You have spent time planning
and preparing The day is
finally here Take a deep breath
smile and enjoy this special
time with your family
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Tel 670 90 90 07infoangelman-asaorgwwwangelman-asaorg
The Angelman Syndrome Association (ASA) is a
non-profit organisation founded in Barcelona in
October 1996 on the initiative of a group of
concerned parents with children affected with this
syndrome
Our association is comprised of an approximate
number of 200 affected families dotted around the
country
Our association was formed for the purpose of
enhancing communication among the families
FAMILY MEETINGS
Every year we celebrate the family annual meeting to
be held in the different autonomous communities In
2013 this meeting was held in Torrejoacuten de Ardoz
(Madrid) During these encounters we organise
leisure and fun activiites for the children as well as
professional conferences on education medical social
or legal issues
This way awareness is raised by sharing opinions and
experiences among parents and keeping in contact
with caregivers and medical professionals in the
Angelman Syndrome
providing support counselling and information and
fostering research for a deeper knowledge at all levels
on the AS that will allow affected individuals to attain a
better quality of life Mainly concentrated on the
purpose of supporting the families of affected
individuals particularly those newly diagnosed we
have a supporting family network around the country
who voluntarily provide support and advice to parents
who require guidance and information
Moreover we keep in contact with other international
Angelman Syndrome Associations to foster the
exchange and sharing of information as well as
collaboration in all the different fields
This year we have hosted
Dr Weeber and also Dr Mayor
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Main events 2012 and 2013
MAIN ACTIVITIES
An intense activity has been carried out by ASA during the last year thanks to the great commitment
of its members Different events have been organised with the aim of raising awareness and funds
for research We have equally participated in a large number of events or activities organised by
other associations and institutions where we helped setting the tables for the merchandise selling in
order to raise funds
RAISED FUNDS ALLOCATION
The purpose of all our activities is raising awareness of the
Angelman Syndrome and raising funds for the actual
management of the association as well as to foster
research
This way the funds raised from the old mobile collection
are monthly sent to the FAST in order to finance Dr
Edwin Weeberrsquos research Part of the assets were
allocated to contribute to a clinical trial with minocycline
which is likely to be initiated soon in a spanish hospital
ASA would collaborate with that hospital in case it
required a money contribution or with the member
families who would take part in the trial
There are also a certain amount of funds being allocated
to a research that is being carried out in Spain by Dr Ugo
Mayor in the CIC Biogune Center
PROFESSIONAL CONGRESSES
In 2012 a university congress was organised
inValladolid on the Angelman Syndrome We are
aiming to host another professional congress in
early 2014 This encounter seeks to advance the
awareness of Angelman Syndrome among those
professionals who take care of our children
(physiotherapists speech therapists psychomotor
specialists special education teachers etc) to help
them with how to deal with the management of
children affected with this syndrome
Our main fund raising campaigns
1- Old mobile phone collection for recycling them for trade
That was a very successful initiative in which over 68000 mobile
phones were collected in a yearrsquos time
2- Handmade product selling produced by the mothers mem-
bers of the association such as bracelets necklaces earrings and
other jewlery but also biscuits and different items
3- Awareness rubber wristband selling
Moreover a large number of other events have been carried out
during the last year (bazaars sport events charity events and
festivals etc) especially the Padel Tournament held in February
on the occasion of the International Angelman Syndrome Day
where the raised funds were enterely donated to the FAST
(Foundation for Angelman Syndrome Therapeutics)
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
We were warmly wel-
comed and by the end of
the weekend we felt well
connected Indeed it be-
came clear that we could
achieve much more by
working closer together as
an Australasian AS team
We are so grateful to Liz
Stanley Anne Funke and
the wonderful ASA organiz-
ing Committee for provid-
ing this wonderful net-
working opportunity for
our NZ families
The global picture where to nowhellip The Angelman Network is
seeking to actively expand
on the initiatives which the
recent international con-
ferences have generated
We aim to
1 Identify NZ scientists
medical professionals and
organizations that are
interested in Angelman
Syndrome
2 Form a NZ AS Network
via phone calls emails
and face-to-face meetings
3 Connect this group to
international individuals
orgs amp institutes who
share similar goals for AS
4 Continue strengthening
the International AS
Collective so that we can
lsquobuild faster tracksrsquo (as per
FAST AU) ie collaborate
globally share information
and resources quicker
fundraise harder and
initiate more research
world wide
5 Focus on achieving
these short term goals by
the next International
Angelman DaymdashFeb 15th
2014
We invite you to follow our
progress on our website
wwwangelmannetworkcom
Special points of interest
Kiwis in Sydney
Connecting Families
Specialists amp Researchers
The Global Picture
Where to nowhellip
wwwangelmannetworkcom
Kiwis in Sydney
Above TAN Cultural Advisors Keith
Henderson Sivao amp Johno Winther
with Ursula and Nadine
Above Liz and Anne cut the ASA
20th Anniversary cake
Below Ursula meets Maria (70yrs)
Prof Dan Prof Weeber Mary-Louise and Meagan Cross (Chair FAST AU)
In early October seven
families and two pediatric
specialists from New Zealand
arrived in Sydney Australia
(only a 3 hours flight from
Auckland) to attend the
International Angelman Syn-
drome Conference This
event also celebrated the
20th anniversary of the ASA
organization and of the es-
tablishment of the Angelman
Clinic in Sydney There was
clearly a lot to celebrate
Three trustees from The
Angelman Network (TAN)
Trust attended Ursula Cran-
mer (Chair) Nadine Hender-
son (Secretary) and Gemma
Bradburn both the latter with
new babies on their hips Our
Cultural Advisors Sivao and
Johno Winthers and Keith
Henderson as well as addi-
tional families from across
NZ were also present
The weekend proved to be a
first class event and presen-
tations by Prof Ed Weeber
Prof Bernard Dan Dr Robert
Leitner Mary-Louise Bertram
and Meagan Cross were
highlights for our NZ families
as was meeting Maria an
angel who just turned 70
Kiwi-mums meet-up
The Hendersons Ed Weeber and Kevin Kennedy
TAN trustees Gemma Ursula and
Nadine with Mary Louise Bertram
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Greetings Angleman
community and all
the readers of
ldquoAngelman Todayrdquo I
would like to thank
Liz Sordia for
stepping out and
showing leadership
by creating this
periodical to bring us
all closer and help us
find ways to meet
our challenges that
will maximize our
Anglesrsquo potential and
the opportunity to
share with you the
experience of the
moment I and my
wife learned that Max
had Angelman
syndrome
I am a Dad of a 12yr old Angel
named Maxent Max has two
brothers Charle age thirteen and
Tristan age eight
It is a day I am sure all parents and
families remember like yesterday
a mark of a journey that is
remarkable
Maxent was born November 5
2001 He was due the second week
of December but he decided he did
not want to wait that long Our
family was in the midst of quite a
bit of chaos as the events of
September 11 had just disrupted
our lives I work in the financial
markets and my office was 1 block
from the World Trade Center I
was displaced from my job as a
result of the horrible events of that
day
Our family is very blessed that
this is all that occurred to us and
our prayers are with the many
friends and associates and victims
we lost May peace always be with
them and their loved ones
My two partners and I were lucky
enough to find an opportunity but
it required us to relocate to Irvine
California
In the meantime my wife
Sybille and 16 month old son
Charle moved to My Motherrsquos
house in Delaware We figured I
would get a feel if the company
was a good fit for the family and if
it was we would move everyone
out after Sybille gave birth in
December
Two weeks later Max made his
big debut As a result of his
impatience (6 weeks premature)
Max needed additional care and
was rushed from the birthing room
to a neonatal unit (12miles away
accompanied by a police
motorcade) Eleven days later on
the way home from buying
groceries with my Mother driving
Sybille and the boys were rear-
ended Max had his second ride in
an ambulance to the ER and was
released with ldquono apparentrdquo
injuries
Meanwhile things in Irvine were
going well and I was hunting for
an apartment to call home Sybille
and the boys arrived the first week
of December Five days later Max
was in the ER diagnosed with
pneumonia and needed to be
admitted as he required oxygen to
keep his saturation level normal
Maxrsquos pneumonia slowly cleared
up but his saturation level
remained low requiring him to
remain on oxygen
He was tested for a plethora of
diseases and conditions but
nothing appeared A lung x-ray
revealed his right lung was
partially collapsed His hospital
stay lasted approximately 3
weeks He returned home where
he required 24hr oxygen until his
saturation level returned to normal
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
In the following weeks regular
follow ups with the lung specialist
and an ultrasound test reveled
Maxrsquos right diaphragm (muscle at
the base of the lung that fills and
dispels the lung with air) partially
paralyzed The recommendation
was to stay the course and hope
the diaphragm proved strong
enough to perform its duty as Max
developed
After five months and little
change Max needed surgery on his
lung called a diaphragm plication
which now keeps his lung
permanently open and close to full
capacity On the downside the
diaphragm does not function
properly As a result Max
struggled with any small cold or
infection quickly turning into
pneumonia making him a regular
at the ER over the next year We
traded our oxygen tanks for a
nebulizer and became breathing
treatment specialists
Time marched on we returned
back to NJ Max was growing well
as we managed his breathing
issues but Sybille noticed he was
missing some basic milestones
We spent the next few months in
and out of specialistsrsquo offices and
were receiving a similar response
ldquoMax is doing as well as you
could expect given all he has been
through it is not abnormal for him
to have some delaysrdquo One of the
last neurologists we saw suggested
we get a genetic test which had
also been suggested earlier by our
pediatrician This is when things
changed with our Doctorsrsquo visits We
had become very accustomed to
having trouble scheduling
appointments with specialists as well
as having long waiting room visits
only to feel rushed when we spoke to a
Doctor who assured us everything was
fine
The visit with the genetic ldquoteamrdquo
was very different For starters when
we arrived they offered us a cup of
coffee (Sybille told me after the
appointment she knew immediately
we were in for it) When we were
invited into the office it was a large
room with a big table where three
people were seated not including the
Doctor who escorted us in Thatrsquos
when I recall muttering ldquouh-ohrdquo under
my breath as the hairs on my neck
stood straight up
Introductions were made while we
braced ourselves for what we were
about to learn ldquoMr and Mrs Kraft
we have the results of Maxentrsquos
genetic test and have found we have
an explanation as to why he has been
running into some developmental
delayshelliphellipMaxrsquos results reveals he is
missing a part of gene 15 which we
know to be the genetic disorder called
Angelman Syndromehelliprdquo Freeze
frame
Silence hit my brain despite seeing
and watching more information being
presented to us through the moving
lips of the other specialists Shock
fear denial all rushed into me
simultaneously as the jumbled
murmurs of medical terminology
rolled out of their mouths like fire
balls torching from a fire breathing
dragon
When I finally heard English ldquodo
you have any questionshelliprdquo Thatrsquos
when my most amazing wife without
hesitation started belting out questions
that doused the flames from the evil
dragons to bring some order back
into my panicked mind
ldquoDoes he have a normal life
expectancy Is it a degenerative
disorder Will he need surgery
What kind of therapy will he need
How do we get itrdquo
She immediately grounded me and
brought sense into the shocking
news we just were presented
The genetic counselor in a
soothing voice asked me ldquoMr
Kraft I know this is a lot to take in
what are you feelinghelliprdquo I thought
for a second and was completely
blank I fumbled out something
like ldquoI donrsquot know yet you just
told me my child is handicappedrdquo
In hind sight I should have pointed
to my wife and saidhellipASK her
SHErsquoS IN CHARGErdquo It was
shocking news to say the least Itrsquos
a day Irsquom sure we all remember
well but I will never say it was a
bad one because our Angels are an
amazing gift
Sybille came home and charged
to the internet and got to work
while I broke the news to my
family I remember clearly the
awesome welcomes Sybille found
from our fellow Angleman parents
on the internet practically
congratulating us Bracing us for
the road of eye gouging hair
pulling pinching and slobbering we
were on our way to travel
Itrsquos not an easy road we travel but
it sure is fun We have learned
some much taking care of Max All
the Angels out there are an amazing
force of love and goodness We are
all blessed to have them We as
parents have to keep up the good
fight to keep them safe and on their
road to reach their maximum
potential Thanks to Angelman
Today we can share our
experiences and tricks that will
keep us on that road
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
The Israeli Angelman Syndrome Foundation was established in
2012 with the aim of consolidating the efforts carried out in Israel
to improve the lives of people with AS by promoting early
diagnosis research treatment and training The foundation is
designed to provide services to all Israeli children with AS and
their families
We seek to advance the awareness understanding and treatment
of AS with the ultimate goal of finding a cure We offer
consultancy and mental support for AS families We hold social
gatherings for AS families in holidays and weekends with the hope
of giving these families support and hope To this end we feel it is
important to cooperate with AS organizations around the globe
share databases and information and actively participate in
research and trials
The Israeli AS clinic operates within the Pediatric Neurology
institute of the Sheba Medical Center in the city of Tel-Aviv
Children with AS are treated by a dedicated team of physicians
including a psychiatrist and a nutritionist led by a pediatric
neurologist The clinic applies a multidisciplinary approach to
address the main clinical issues of AS including seizure and
movement disorders speech difficulties sleep disorders
hyperactivity and attention disorders in addition to other
behavioral and Orthopedic concerns The Sheba AS clinic aims to
conduct a dedicated research and clinical trials on AS and to
collaborate with AS centers worldwid
Over the last year we have held two scientific symposiums with
various presenters in the areas of neurology speech therapy and
psychology as well as lawyers specializing in social security
procedures
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Happy Holidays from
Angelman Today
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Angels in Action Celebrating the Abilities of our Angels
(In French and English)
Franccedilois a 24 ans et est UPD nous avons eu le
diagnostic quand il avait 13 ans Jusque lagrave il
avait veacutecu presque comme sil neacutetait pas
handicapeacute malgreacute un eacutecart de plus en plus grand
avec les autres enfants Il a marcheacute agrave 25 mois
mais le langage nest pas venu Sinon il eacutetait
facile et sinteacutegrait dans les groupes sans poser
de problegraveme Cest pourquoi jai tenteacute beaucoup
dapprentissages avec lui dautant plus queacutetant
professeur je ne concevais pas que mon enfant
nait pas droit agrave lrsquoeacuteducation
Il a eu un trotteur avant de marcher puis un
tricycle agrave deux ans A deux ans et demi il savait
peacutedaler Chaque anneacutee en vacances je lui ai
apporteacute un veacutelo dabord avec des petites roues
puis un eacuteteacute nous sommes partis avec deux
veacutelos lun avec des petites roues pour quil
puisse en faire librement dans le jardin et un
sans petites roues pour commencer agrave apprendre
Et tous les jours je lui faisais faire dix minutes
de veacutelo sur la route autour du village Je tenais
le guidon et la selle pour quil ne tombe pas et je
courais en mecircme temps qursquoil avanccedilait Jai bien
transpireacute Mais au bout de deux semaines jai
commenceacute agrave le lacirccher et il sest mis agrave en faire
tout seul Ceacutetait gagneacute
Franccedilois is 24 years old and UPD We got the
diagnosis when he was 13 years old We treated
him as if he wasnrsquot handicapped despite of the
increasingly great differences with other
Tous les eacuteteacutes avec son oncle et moi-mecircme nous
lavons emmeneacute faire des petites promenades de
plus en plus longues En hiver je lrsquoamenais
presque tous les dimanche matins faire du veacutelo au
bois de Vincennes pregraves de chez nous Parfois il ne
refusait drsquoavancer ou il sarrecirctait brusquement et
celui qui eacutetait derriegravere manquait de tomber ou il
prenait tout agrave coup un chemin ou il faisait demi-
tour brusquement
Bref Lapprentissage fut long On lui a appris agrave
freiner agrave srsquoarrecircter au stop agrave rester bien agrave droite
(cest cella plus dur encore mais il y arrive de
mieux en mieux) Maintenant il adore faire du
VTT mais aime aussi faire de la route restant bien
sur le cocircteacute quand une voiture arrive Bien sucircr on
est vigilant et on lavertit agrave lavance des
croisements des arrecircts des voitures qui arrivent
Il peut faire des promenades de plusieurs heures
sans fatigue Au deacutebut il jouait avec le deacuterailleur
et on lrsquoavait bloqueacute Depuis 2 ans il ne le fait
plus On lui regravegle le deacuterailleur pour qursquoil ne puisse
pas aller trop vite quand mecircme
Moi jrsquoai du mal agrave suivre mais heureusement son
oncle peut encore mais bientocirct lrsquoeacutelegraveve va deacutepasser
ses maicirctres
children He walked alone at 25 months but the
language did not come
Otherwise he was calm and became integrated
easily into groups without causing behaviour
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
problems
I worked hard to educate him especially
because I was a teacher I could not imagine
that my child would not be educated He had a
trotter before walking then a
tricycle when he was 2 When he was 2 and a
half he was able to used pedals
Each year on holidays I gave him a bicycle
first with training wheels and later we went to
two wheels He had one bike with training
wheels so he can freely ride in the garden and
one without training wheels to start learning
And everyday I made him practice ten minutes
on the road around the village I held the
handlebars and saddle it so it did not fall and I
ran I was soaked in sweat But after two
weeks I stopped little by little holding the
bicycle and he got to do it alone The bet was
won betweem his uncle and I Each summer
holiday we go for rides more and more
In winter with me he bikes on Bois de
Vincennes near our home Sometimes he does not
want to continue or he will stop suddenly and
turn to see if anyone was behind him
In short learning was long He was taught
braking stopping remaining on the right side of
the road (it is the hardest but he gets better and
better )
Now he loves all terrain bikes but also he enjoys
the road remaining on the correct side of the road
when a car arrives Although we are vigilant and
warn him in advance of the crossings stops signs
and when cars arrive He can ride several hours
without fatigue In the beginning he played with
the derailing and we had to block it Now for 2
years he does not play with it any longer We
settle (adjust) the derailing so that he cannot go
too fast I have difficulty in following him now
but fortunately his uncle still can but soon the
pupil is going to exceed (overtake) his teachers
Clinical Trial Begins on a New Treatment Using
Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD) the non-
psychoactive compound of cannabis
For more info about this study go to
httpwwwgwpharmcomPhase1Epilepsyaspx
There is a study underway to test the safety and
efficacy of Cannabidiol (CBD) the non-
psychoactive compound of cannabis Some of the
experts involved are the Angelman communitiesrsquo
very own specialists Dr Elizabeth A Thiele and Dr
Ronald Thibert of Massachusetts General Hospital
Both Physicians are members of the Scientific
Advisory Committee of the Angelman Syndrome
Foundation
The study will provide a better understanding of the
maximally tolerated dose and potential side effects
of CBD as well as display its efficacy in two well-
defined childhood epilepsy syndromes Dravet and
Lennox-Gastaut which are very difficult to control
even with medication
Angelman Today will be following this study closely
and will keep you informed
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
The Foundation for Angelman
Syndrome Therapeutics
Presents the 2013 FAST Global
Summit on Angelman Syndrome A Weekend-Long Event Including an
Educational Seminar Scientific
Symposium Fundraising Gala and more
FAST Global Summit on Angelman Syndrome
The Foundation for Angelman Syndrome Therapeutics (FAST) is pleased to announce that the 2nd Annual
Global Summit on Angelman Syndrome will take place on Friday and Saturday December 6-7 2013 at
the Hyatt Regency Chicago You will not want to miss this years excitement as we have more free
seminars more guest speakers and even more celebrity attendees
The Annual FAST Gala will take place Friday evening 600 PM to Midnight in the Regency Ballroom of the
Hyatt Regency Chicago Guest speakers this year include Dr Edwin Weeber and Dr Rebecca Burdine Guest
of Honor is Golden Globe winning actor and fellow parentColin Farrell Additional celebrity attendees will
be announced in the coming months Entertainment will be provided by 7th Heaven Band Additional
entertainment will be announced in the coming months
There will be two seminars on Saturday afternoon December 7th 2013 one on challenging behaviors in
Angelman Syndrome and one on sleep strategies for children with Angelman Syndrome Dr Chris Oliver
world expert on challenging behaviors in Angelman Syndrome will host the seminar on behaviors and Dr
Keith Allen Professor of Psychology and Pediatrics will host the sleep seminar both will have a parent
QampA session immediately following To view videos of the Educational Seminar and Scientific Round Table
hosted at the 2012 FAST Global Summit on Angelman Syndrome please visit the FAST YouTube page
A Scientific Round Table panel will be held on Saturday December 7th 2013 Speakers include renowned
Angelman Syndrome experts Dr Edwin Weeber Dr Scott Dindot and Dr David Segal Additional speakers
will be announced in the coming months The Scientific Round Table discussion will be the most
comprehensive and up-to-date overview of the current landscape of Angelman research Immediately
following the informative discussion the scientists will answer any questions from audience members in a
QampA session
Important facts to know about the 2013 FAST Global Summit on Angelman Syndrome
Date
Friday - Saturday December 6-7 2013
Location
Hyatt Regency Chicago 151 E Wacker Dr Chicago IL 60601
Events
Friday night - Annual FAST Gala
Saturday afternoon - 2 educational Angelman-specific seminars
Saturday afternoon - Scientific Round Table
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Sponsorship
To purchase corporate sponsorship please click here
Program Advertisement
To purchase program advertisement please click here
Program Announcement
To purchase an announcement for family or a friend please click here
Silent Auction Donation
To download the silent auction donation form please click here
Costs
Admission to all seminars will be free to the Angelman community
Tickets to the Gala are $15000 per person Tables of ten (10) and twelve (12) are available for
purchase FAST is releasing a limited supply of tickets at this time You may purchase tickets by
clicking here
The FAST room rate at the Hyatt Regency Chicago is $10900 per night plus tax This rate is
available from 12032013 to 12092013 This rate is only valid if you book before November
15 2013 You may book your room by clicking here
Rules amp Restrictions
Absolutely NO children under the age of 21 will be permitted to attend the Gala or enter the Gala
venue
Children are permitted and welcome to attend the seminars
Tickets and table purchases are non-refundable
Colin Farrell Ticket Giveaway
The Colin Farrell Ticket Giveaway will be announced this September Every Angelman family will be
eligible to enter the drawing for a chance to receive either one or two complimentary tickets to the Gala
The ticket giveaway will be announced via email and on the FAST Facebook page There are a very
limited amount of tickets in this drawing so please note that entry in the drawing does not guarantee you
will receive tickets
Guaranteed Complimentary Tickets and Lodging
The Summit is so much fun and so educational that we often forget its main purpose is to raise funds for
research We encourage all of you to secure Corporate Sponsorship Program Advertisement or Program
Announcements from your employer local businesses friends and families for this very exciting event
Individuals who secure either a $100000 Corporate Sponsorship or $100000 in Program Advertisement
andor Announcements will receive two complimentary tickets to the Gala Individuals who secure a
$500000 sponsorship will receive two complimentary tickets plus a two-night stay at the Hyatt Regency
Chicago Click here for sponsorship forms Click here for a Program Advertisement and Announcement
Form
The Gala will be a sold-out event We are not able to live-stream the Gala on the web this year FAST
intends to live-stream and videotape the seminars but this is contingent upon Summit sponsorship If you
want to ensure your attendance at the event please purchase your tickets now or win them by securing
Corporate Sponsorships If you have any questions about the FAST Global Summit on Angelman
Syndrome please send an email to infoCureAngelmanorg
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on
Thank you for your support
Please Share Angelman Today
wwwangelmantodaycom
Connect with us on