angelman today march - april edition 2015
DESCRIPTION
Premier Online Magazine Dedicated to Angelman SyndromeAngelman Today online magazine is the first and only publication dedicated to parents, caretakers and professionals of individuals with special needs, specifically Angelman Syndrome. Inside: Canadian Angelman Syndrome Society E-Z-On Products Angelman Syndrome Foundation Angels in Action Angel Art Green Monster Smoothie FIND Angelman Syndrome Greece Irish Luck Avocado Lemon Pie International Angelman Day Switzerland International Angelman Day Mexico Matthew & FriendsTRANSCRIPT
Angelman Today
INCLUDING RESOURCES ● RESEARCH ● INSPIRATION
digital magazine
www.angelmantoday.com
LGIT Recipe
Angel Art International
Angelman
Day
2015
Spring has sprung. Here in Florida the flowers are blooming and allergies are roaring.
The beautiful weather in spring seems to inspire a sense of renewal and fresh ideas.
The shamrocks in the grass always grab my attention for a second glance in hopes of
finding a four leaf clover and capturing some good ‘ol’ “Luck of the Irish!”. That was
the inspiration for this edition.
I recently had the opportunity to chat with fellow Angel Mama Aisling Cullen from
Ireland. I just adore the Cullen twin boys, Zach and Luke from Ireland. They are
featured on the cover and in our ‘Angels in Action’ segment. Read about how Aisling
describes their personalities and you too will adore them.
May the Luck of the Irish be upon you this St. Patty’s Day and may you find
inspiration from this edition and our wonderful community as you continue on this
amazing journey.
Warm Wishes,
Lizzie Sordia
Editor - in - Chief
Lizzie Sordia
Editor - in - Chief
WWW.ANGELMANTODAY.COM March / April 2014
EDITOR’S LETTER
March - April
EMAIL: [email protected]
FOLLOW: TWITTER.COM/LIZSORDIA
FOLLOW: TWITTER.COM/ANGELMANTODAY
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5
Aromatherapy and Angels…………………4 Angels in Action...…………………….…..10 Angel Art……….…………………………..11 Green Monster Smoothie…….................14 FIND Further Inform Neurogenetic Disorders...15 Clairy Kourkouta Family Story……………………………….18 Irish Luck Avocado Lemon Pie………………..……..20 Angelman Syndrome Collection’s Showcase…………….……..21 The History of Angelman Syndrome (Spanish)……………………………..........30 Stay Connected…………………………...31 History of AS……………………….….…..32 Parent Recommended Books..………….33
What’s inside
Angelman and Associated
Foundations Canadian Angelman Syndrome Society………………………5 The Angelman Syndrome Foundation………………………….…...7 The Charlie Foundation……..………..11 Angelman Syndrome Greece……………………………..…..17 Angelman Switzerland…………….….22 Angelman Syndrome Mexico…… ……………………..…..…23 Matthew & Friends……………………26
30
Cover:
Twin Brothers
Luke and Zach
Culen, age 8
Photo provided by:
Aisling Cullen
18 11
20 23
15
There has been a lot of news about Essential oils and
how they may help you with many health issues. This
is very exciting, yet confusing at the same time.
We have been using Essential Oils for the past 4 years
in our home. We are always looking for options to
help our son Matthew (age 18 with AS) to help him
with sleep, behavior, anxiety, stress, focus, digestion
and to keep his muscles strong and pain free.
After much trial and research we have come to realize
that his body is constantly changing and that we may
need different strategies to help him at different times,
regardless of how consistent we keep things for him.
We use a holistic approach that has made a huge
difference by removing toxins from his body and his
environment. He does still take some medication. For
Essential Oils, he diffuses, drinks and uses only
Young Living Essential Oils. We have eliminated
toxins like bleach, perfumes or any anti- bacterial
products (only non-toxic toothpaste, soaps, shampoos
and cleaners) for Matthew and our family. It is
amazing how we have stayed healthy this winter
season with all of the super bugs going around.
What are Essential Oils?
Essential oils are extracted directly from plants and
can be diffused, inhaled, applied topically,
incorporated into massage, or taken internally. They
are available as single oils or blends that may have
organic carrier oils added for ease of use. You need to
be sure that any Essential oil products that you are
considering are therapeutic grade and have no
additives. Many labels say that the oils are “pure” so
you may think that they are fine to use. Not the case.
You can smell the difference between pure, perfume
grade and therapeutic grade right away. We only use
Young Living in our home as they use a special
“Seed-to-Seal” ™ process where they control the
fields, soil and quality of the oils.
(visit www.youngliving.com to learn more about
the process and safety)
Remember - Anything you are ingesting, spraying
in the air or putting on your body should be Non-
toxic. Read labels (If a toothpaste says that you
can’t swallow it, I would take that as a red flag)..
Our kids , family & even pets may crawl on the
ground, explore things by putting objects into
their mouths, take baths and are often in their bare
feet. The pores in our bodies take it all in!
Many thanks to Sybille Kraft for her advice on
diet, Dr. Ron Thibert ,Dr. Michele Palumbo at
Mass General and the Angelman Syndrome
Foundation for being such wonderful supports for
us!
If you would like additional tips you can reach me
at: [email protected] www.YLivewell.com
Aromatherapy and Angels By Shari Caspert, Mom of 18- year old Matthew
What are essential oils and how can they help my family?
WWW.ANGELMANTODAY.COM MARCH / APRIL 2015
Matthew’s Nightly Sleep Routine:
• Epsom Salt Bath with lavender
• Put on PJ’s
• Turn on rain sound machine
• Diffuse 8 drops of lavender, I keep it on
while he sleeps. (Home diffuser turns off
when empty).
Try these tips or create your own.
Save the Date -- CASS Conference in 2016! The Canadian Angelman Syndrome Society will be holding its 14th
International Conference from July 14th to 16th, 2016 in Edmonton,
Alberta. Directors Terry Singleton and Kent Fleming are Conference Co-
chairs.
Please stay tuned to the CASS website for News Flash Updates on this
exciting event!
www.angelmancanada.org
WWW.ANGELMANTODAY.COM MARCH / APRIL 2015
WWW.ANGELMANTODAY.COM March / April 2015
www.Angelman.org (800) 432-6435 Int’l (630) 978-4245 [email protected]
Get ready to Walk!
Registration is open!Register TODAY for the Angelman Syndrome Foundation National Walk on May 16*. Last year, nearly 10,000 individuals raised more than $1 million in support of AS research and family support services, and this year we hope to raise even more!
What’s new this yearYou spoke, and the ASF listened:• The registration process has been streamlined and
simplified—check it out!• You can now register as a Team and have one team
fundraising page where all team members’ fundraising efforts contribute to the team’s overall total. Click here for more details.
• The $25 minimum online fundraising goal per participant was implemented last year, and it worked! $56,000 MORE was raised in 2014 over the 2013 Walk, which funds one year of the Wagstaff Fellowship supporting AS research, or a small-scale clinical study or research grant. Imagine what can be done with another $200,000!
• Fundraising prizes are BACK! The ASF has new and exciting prizes for individuals and teams who really knock it out of the park. Click here to check them out.
Have questions? Give us a call! The ASF is always here to answer questions or help you with registration. Contact Kitty Murphy at [email protected] or call 800-432-6435 for anything Walk related!
A HUGE THANK YOU to all of our Walk Coordinators for their tireless efforts to make the 2015 ASF National Walk an even bigger success!
Join thousands of AS families at the ASF National Walk in May
This year’s Walk sites• Alabama (Huntsville)• Arizona (Tempe)• California (Los Angeles)• California (Sacramento)• California (San Diego)• Colorado (Denver)• Connecticut, (Hartford)• Florida (Orlando)• Illinois (Naperville)• Indiana (Indianapolis)• Kansas (Olathe) NEW• Kansas (Wichita)• Louisiana (Breaux Bridge)• Massachusetts (Boston)• Michigan (Rochester Hills)• Minnesota (Hutchinson)• Minnesota (International Falls) NEW• Missouri (Lake of the Ozarks) NEW• Missouri (St. Louis)• Nevada (Las Vegas)• New York (Buffalo)• New York (New York)• North Carolina (Durham) NEW• Ohio (Cincinnati)• Oregon (Eugene) new• Pennsylvania (Philadelphia)• Pennsylvania (Pittsburgh)• South Carolina (Columbia)• Tennessee (Nashville)• Texas (Dallas)• Texas (Houston)*• Utah (Salt Lake City)• Washington D.C.• Washington (Seattle)
*Houston, TX ASF National Walk takes place on Sunday, May 17.
Get ready to Walk!
2015 ASF Conference UpdatesNEW speakers and sessionsSo much to learn, and so many opportunities to meet experts and AS families! We are all on this journey together. New developments for the 2015 Biennial Conference in Chicago, July 16-18, include:• “Pop-in” discussions for families to network with
experts and other families• Sibling panel, family forums, parent-to-parent sessions,
and “Just For…” sessions• Keynote speakers addressing a variety of useful topics,
including Dr. Stephen Calculator and Dr. Ron Thibert
Much more to come!
Conference Scholarship details and FREE registrationIncluded in the FREE registration for the 2015 ASF Biennial Conference is access to the 40+ Conference sessions, two continental breakfasts, and the Thursday evening Welcome Reception. Conference Scholarship applications now available, which provides financial aid to families who may not otherwise be able to attend, and funds up to three nights of hotel accommodations at the Hyatt Regency Schaumburg. Applications are due by May 8, 2015.
Check out the NEW ASF Walk T-shirt!Individuals with AS, children under 12, and all other registered Walkers who raise $25 online by April 20 will receive the newly redesigned Walk t-shirt!
www.Angelman.org (800) 432-6435 Int’l (630) 978-4245 [email protected]
International Angelman Day—THANK YOU!THANK YOU for spreading awareness of AS and raising funds for AS research during International Angelman Day! We at the ASF could not be more proud of this community and how it rallies together to work towards a brighter future for our loved ones with AS. International Angelman Day’s “$15 for the 15th” raised more than $5,600 directly for AS research, and a number of AS families braved the cold in New York City to appear on the Today Show on Friday, February 13th! THANK YOU for your perseverance and love for the AS community!
A tremendous thank-you to these incredible families, friends and supporters of the ASF and the AS community for hosting their own fundraisers to support AS research and other AS families. Without your support, much would not be possible! Mark your calendar for these upcoming events:
Meerdo Golf TournamentSmithfield, UTAndy Meerdo has organized a $100 per-player, 4-person golf scramble for June 19 at 7:00 am at Birch Creek Golf Course. Funds raised through the silent auction and a portion of the entrance fee benefit the ASF.
Charity Fishing TournamentHouston, TXOn June 5, Jeremy Kraus is hosting an all-day charity fishing tournament featuring 30 teams of three or four players. A dinner will follow the tournament. More than 100 participants have already registered to participate!
Tractor CruiseBrown County, KSEvery year, the Olsen family hosts a 40-mile tractor cruise on the roads of Brown County on Labor Day weekend. This year is the 10th anniversary of the tractor cruise, which has raised more than $25,000 for the AS community since its inception.
Andy Meerdo and his son, Zach
The Meerdo Family The Olsen Family during the Tractor Cruise
Upcoming Fundraisers Supporting the AS Community
Luke and Zach are identical twins (UBE3A) who will be 8 in May and are the youngest of six
boys. We live in a little coastal village called
Downings, Co. Donegal, Ireland. Living in a small
rural community definitely has its advantages as the
support that we get from family and friends cannot
be bought. My family are involved in the hospitality
trade, so everyone knows the boys and they are
accordingly acknowledged wherever they go. It's
lovely to walk in to the hotel and there's high 5's
going on all around- little celebrities in their own
right!
The twins have very different personalities with
Luke being the more serious and headstrong of the
two. Zach just oozes devilment and loves nothing
more than winding his brothers up and knows
exactly which buttons to press. He is more sociable
and outgoing and interacts immediately with others
while Luke is more cautious, he sits back and
accesses every situation and then decides what he
will do or who he will play with. Zach loves playing
with Lego and Magformers and Luke loves
everything about his iPad. With the boys love of
water we are spoilt for choices of lovely safe
By Aisling Cullen
beaches where we spend most of our time during
the summer months.
Living in a house full of boys, we are a very active
sporting family - boys don't know how to sit! We
are a fanatical Gaelic football family and travel to
most of our county's games. In my day I played
myself and now I help coach the underage girls
teams. When the twins were born I had dreams and
visions of all 6 boys playing together on the one
local team but that was all dashed with their
diagnosis until last week where we have got 100%
support from our local club to involve the twins-
happy days! I think this is very important for them
to be included in community activities as they don't
attend the local school and it gives other children a
chance to get to know them.
Luke and Zach attend a special school about a 40
minute drive away, to me a little ironic that the
school is called "Little Angels". They started there
when they were 4 and after the first year myself
and the principal decided it was best to separate
them as it was a case of "double trouble" with Luke
leading Zach astray.
WWW.ANGELMANTODAY.COM March / April 2015
Angels in Action
They are now each in a class of 6 children with two
SNA's in each class. Zach is streets ahead of Luke
at school and I firmly believe it’s all down to
seizure activity. We battled to get Luke's seizures
under control while Zach has only ever had drop
seizures twice. Luke has now been seizure free
since May '14 and he's coming on leaps and bounds.
In Ireland SLT/ OT/ and physio are free and they
receive all these therapies during school. The boys
have a few hand signs and I started them on P2go
on their iPads last year without the support of their
teachers and SLT. I feel the SLT is way behind here
in Ireland, and I am still fighting them on the boys
capabilities. Last year I had the pleasure of
attending one of Mary-Louise Bertram's workshops
here in Ireland and Zach's teacher attended also and
afterwards she was converted!
Luke and Zach are very close but can still fight
the bit out like any typical siblings. Any time we
are in the car they hold hands and when they are
outside in the garden one always follows the
other with the leader role always switching off.
They will not share anything except with each
other and swap everything dinner included, and
Zach being Zach always fairs off better. Call me
mad but I do believe they are telepathic and have
night vision!
The boys amaze us every day reaching different
milestones as they teach us that the smallest
things in life are the things that count the most.
Lá Fhéile Pádraig shona daoibh go léir –
Happy St. Patrick's day to you all from the
Cullen Family (Ireland)
WWW.ANGELMANTODAY.COM March / April 2015
Some people like to collect stamps, coins and
my late mother used to collect mugs. I used to
collect stamps when I was younger, and some
of those who know me would say I like to
collect a few things, but my most prized
collection is my Angel Ink Collection.
Growing up I didn't know many people with
tattoos, so to have a tattoo would be something
foreign to me.
On 7 February 2011 we would be celebrating
my son Elijah's 10th birthday. In our family the
10th birthday was an important one. I recall that
my two sisters and I were given a wristwatch,
which has always been special for us. I still
have my watch, although not in working order.
I wanted to do something special for Elijah's
birthday, but things were different. Firstly, he
had Angelman Syndrome and secondly was that
he died in 2007, as a result of seizures, and so a
watch was not going to be the appropriate gift.
I had been mindful of this for some months
before and did my background work and
decided that I was going to get a tattoo to mark
this occasion. Not just any tattoo, but I was
going to embark on having a portrait of him on
my upper left arm.
I decided where I was going to get it and I
happened to see a voucher from Zealand Tattoo
that offered a discount for tattoo work and so I
went and cautiously invested my money in a
voucher.
I took in the picture I wanted as a tattoo and
made an appointment. I had done some reading
Angel Art
on an artist named Ray and thought he would
be the man to craft this ‘ink’ for me. Wow!
What a day - turned out that Ray was learning
to live with the death of his brother some years
before and so as he recreated Elijah's portrait
on my arm we shared some special moments of
connection. Wow! What an experience…
WWW.ANGELMANTODAY.COM MARCH / APRIL 2015
I have written a blog about the Journey with
Elijah since not long after his diagnosis in
2006. After Elijah died a friend encouraged me
to continue to write it and so I have although
these days not so often.
I shared my portrait of Elijah as a blog entry. It
occurred to me that other parents and relatives
of individuals whose lives are impacted by
Angelman Syndrome might also have "ink" and
so I posted my image on Facebook and others
started sharing their photos. I found parents like
me who also had portraits of their children who
had died. Over time more ink came out of the
woodwork and more people have shared their
ink.
It can quickly become a starting point for
discussions about our children or family member
that creates awareness of Angelman Syndrome.
I now always carry a picture of Elijah with me and
so when talking about him I can reach for my
sleeve and show people Elijah.
I hope that you will enjoy the 60 + images I have
in my collection. -
https://elijahangel.wordpress.com/angel-ink/
Please contact me if you have ink you would like
to share as part of my collection
WWW.ANGELMANTODAY.COM March / April 2015
Green Monster
Smoothie
Ingredients:
-½ Avocado
-Kale
-Pineapple
-Strawberries
-Banana
-Coconut Oil
Blend it all together and enjoy!
WWW.ANGELMANTODAY.COM March / April 2015
GF Dairy
Free
The Cerebra Centre for Neurodevelopmental
Disorders is led by Professor Chris Oliver at the
University of Birmingham. The aim of the Centre
is to conduct high quality research with children
and adults with neurodevelopmental disorders. The
Centre focuses on researching behaviour, cognition
and emotions.
The Cerebra Centre team has developed a novel
online resource to improve the exchange of
knowledge about rare genetic syndromes. The
purpose of this website is to summarise research
studies using a range of interactive and engaging
formats, for example, parent stories, professional
talking heads, bite-sized written information and an
interactive database.
The website is called FIND, which stands for
‘Further Inform Neurogenetic Disorders’ and has
been developed initially for three genetic
syndromes. This is the first time research on three
syndromes has been brought together with the aim
of making the findings from these studies
accessible to a much wider population through
videos, professional interviews and family stories.
Image: Dr Jane Waite from the Cerebra Centre
preparing for the launch of FIND.
On the website you can find information on the
physical, cognitive and behavioural
The FIND website goes live!
www.findresources.co.uk
WWW.ANGELMANTODAY.COM March / April 2015
characteristics of Angelman syndrome
alongside information on diagnosis, genetics
and health. All of these sections have been
developed with the aim of communicating
need to know facts to parents, carers and
professionals. In addition, for each syndrome
there is a section that includes information on
the causes, assessment and intervention of
behavioural difficulties that may present in
Angelman syndrome.
There are a number of family stories on the
website as parents have kindly given up time
to speak to the Centre about their experiences
of parenting a child with Angelman syndrome.
These are extremely interesting as parents
provide unique insights and context for each
of the areas covered by the website. Children
and adults with Angelman syndrome have also
contributed through “About Me” sections.
One unique feature of the website is an
interactive database, which allows visitors to
ask questions on behavioural characteristics in
the syndromes. It is designed so that visitors to
the site can select the syndrome, age group
and behavioural characteristic of interest from
drop-down menus. Information is then
presented in an accessible way through a
question and answer format.
Throughout the website there are links to existing web
resources on Angelman syndrome and to the syndrome
support groups as the purpose of the website is to
complement existing information rather than be an
exhaustive website on Angelman syndrome. FIND
specialises in information on behaviour as this is the
research area covered by the Cerebra Centre for
Neurodevelopmental Disorders.
Members of the Cerebra Centre team are keen to hear
back from families about their experiences of using this
resource so they can develop it further. If families are
interested in getting involved by contributing
information or family stories please email
This project is funded by the Cerebra and the Economic
and Social Research Council (ESRC).
Article written by: Miriam Chaudhry, Effie Pearson and
Hannah Ramshaw (Cerebra Centre Team)
http://youtu.be/cK16tSB113EFind
WWW.ANGELMANTODAY.COM March / April 2015
http://www.findresources.co.uk/the-syndromes/angelman
λίγη βοήθεια για να
πετάξουν!
άγγελοιΜερικοί
χρειάζονται
facebook.com/groups/AngelmanGreecewww.angelman-syndrome.gr
15 Φεβρουαρίου Παγκόσμια Ημέρα Συνδρόμου Angelman (Άγγελμαν).
Το Σύνδρομο Άγγελμαν είναι μια νευρο-αναπτυξιακή διαταραχή που επηρεάζει 1 στις 15.000 γεννήσεις. Χαρακτηρίζεται από αναπτυξιακή καθυστέρηση, επιληψία, δυσκολίες συντονισμού κινήσεων, διαταραχές ύπνου και έλλειψη λόγου. Τα παιδιά με Σύνδρομο Άγγελμαν μπορεί να μην μπορούν να μιλήσουν, ωστόσο μπορούν να επικοινωνήσουν με εναλλακτικούς τρόπους επικοινωνίας και μάλιστα έχουν πολλά να πουν. Μαθαίνουν με αργό ρυθμό, αλλά για μια ζωή. Τα παιδιά με Σύνδρομο Άγγελμαν έχουν ένα μοναδικό χαμόγελο, είναι ιδιαίτερα κοινωνικά, με ευχάριστη διάθεση και μπορεί κανείς να περάσει πολύ όμορφα μαζί τους.
www.angelman-syndrome.gr
www.facebook.com/groups/AngelmanGreece
By Clairy Kourkouta
I always admired the families of special needs
children so much and in fact I was saying that
for people with special needs it’s really difficult
to live in Greece, since common things such as
government allowances, extra benefits, schools
etc are things that someone has to look for by
him/herself.
A year ago and after a series of specialized tests,
we found out that our sweet little girl, Olia has
Angelman Syndrome, del +. By the time we got
the results, we were sure that there was
something wrong with her, but we never thought
that it would be so serious. Our world simply
collapsed. Questions like “Will she be able to go
to mainstream school?” “Will she be
autonomous?” and many more were in my mind.
I remember myself crying a lot and at the same
time trying to be calm and positive, because our
second daughter Danae was only four months
Angelman Syndrome Greece
“Whenever I
thought of
myself as a
mother, it never
crossed my
mind that I
could have a
child with
special needs.”
old and I was breastfeeding her. I wasn’t able to
breastfeed our angel for more than a month and I
wanted to offer that to Danae for as long as she
and I could handle it, so being calm was quite
important.
A year has passed since her diagnosis and with joy
I say that it wasn’t as difficult and scary as I
thought it would be and our life hasn’t change so
much. Yes, we have many therapies within the
week, instead of ballet or painting lessons, but it’s
not the end of the world. I have met amazing
people who supported me and showed me that I
am not alone. My emotions are so real and pure
and at the same time I feel so strong and that I can
overcome anything.
Our angel will turn three years old next month.
She continues to show her passion for life and
how much she wants to understand and to achieve
new things every day. We are really amazed by
the things she has already accomplished.
WWW.ANGELMANTODAY.COM March / April 2015
This Christmas she gave us the best present. She
made her first independent steps! Not many, she
made 6-7 steps but it is a start. I truly believe
since she did 6-7 steps, she will eventually
manage to walk independently one day soon.
Furthermore, I find her clever; I see that she gets
to choose when to respond on an order that we
give her. If it’s for things she enjoys, then she
responds perfectly, but when she doesn’t care she
simply ignores us. So with much work, I know
that one day she will be able to do many things by
herself. Fortunately, we are lucky because she
doesn’t suffer from seizures, we do take seizure
medication, (when we got her diagnosis she did
have two short absent seizures), but we didn’t
have any since then.
Olia since September is going to a mainstream
kindergarten with great success. She managed to
be less hyperactive, to be able to watch a small
theater play, and to sit and eat in the kids dining
area. She can play with her little sister. It’s
adorable to watch the two of them together. Even
when Olia hugs Danae and as you can imagine
she does it in a clumsy way, Danae laughs and
most of the times show that she enjoys it. She is
only three and already she has accomplished so
many things. I believe with all my heart, she will
be able to accomplish much more throughout her
life.
Recently I realized that my biggest anxiety is not
having a kid with Angelman Syndrome, but
having a special needs kid and living in Greece
is difficult. Greece is a small country, full of
beauties and sun and full of friendly and open
people, but sometimes this is not enough.
Unfortunately, the procedures, the legislation
regarding special needs people and the school
choices are not clear and easy to find out. In
other countries there are plenty choices for
schools, for home daycare, and problems such as
these are taken care of. Unfortunately, this is not
the case. In Thessaloniki where we live, there are
only four children with Angelman Syndrome or
at least these are the families we managed to
find. In Athens there are more cases but still not
many.
So there isn’t an organization or a website yet;
but this is nearly changing. Me with some other
moms have worked hard and created the first
Greek website (www.angelman-syndrome.gr)
which will be launched at this year’s
International Angelman Day! Also, I have
created a poster in order to bring awareness. Our
poster was a big success and not only was it
placed at many spots in Thessaloniki, Athens and
Cyprus, but it was also published to e-
magazines, blogs and websites. Moreover, I was
asked to speak to a local but very well know
radio station about IAD. Our next goal is to form
an organization in Greece and I really hope in
the coming years the Greek organization will be
able to raise funds to donate them for the
international goal of finding a cure.
WWW.ANGELMANTODAY.COM March / April 2015
Irish Luck Avocado Lemon Pie For 7 small pies
(2gr of carbohydrate per avocado cup)
-1/4 cup of mix nuts, (I use pecans
and pistachio).
-9 gr of carbohydrate.
one tablespoon of butter, a pinch of
salt, 2 drops of essentials lemon, or
vanilla flavor.
Mix in food processor until you obtain
a paste. Fill out small cup cake with
the nuts paste and keep in the fridge.
Avocado lemon filling:
Mix one half avocado (6 gr of
carbohydrate) with one tablespoon of
coconut oil and a small amount of
lemon juice until you obtain a paste.
Fill the cup with one small tablespoon
of avocado lemon. Sprinkle with a mix
of chia seeds and poppy seeds, keep
in the fridge until you enjoy them!
WWW.ANGELMANTODAY.COM March / April 2015
Introducing a New York City Fashion Show to raise
awareness for Angelman Syndrome
Joanna Marcella a British designer and the founder
of the Fashion Designers’ and Craft makers’
Network; would like to announce the insertion of an
electrifying Collections Showcase in aid of Angelman
Syndrome. Over thirty innovative international
Fashion designers will be exhibiting their original
collections at the first ever Angelman Syndrome
Collections Showcase on Saturday 25 April 2015 at
the Studio Arte, 265 West 37th Street, New York,
NY 10018.
The Collections Showcase will provide a launching
pad for up and coming emerging designers. The aim is
to exhibit to a vibrant audience of consumers,
fashionista’s and the press. Angelman Syndrome is an
extremely rare condition that is characterised by
laughter, energetic movement, hugs and a mutual
fascination of all things shiny – including water.
Those with Angelman Syndrome will typically have
profound special needs, some physical disability, a
significant lack of verbal skills, sleep disturbance and
epilepsy as well as other possible complications.
Angelman Syndrome does not reduce normal life
expectancy but those with the condition will always
need round-the-clock care.
Joanna says, “I’m encouraged by Colin Farrell’s
mission to raise more awareness. As a celebrity
he is able to catch the attention of the media with
the story of his own son. As a designer I and
other members of the fashion industry can use
this showcase to raise funds for the research,
which will lead to treatments and eventually a
cure.”
Established press, bloggers and other media are
invited to attend to cover the show; we’re also
inviting up and coming; Make up Artists, Hair
Stylists, Male and Female Models,
Photographers, Stage managers,
Presenters/Compares, journalists, Djs and
Stewards to come and support as volunteers.
For more information:
http://www.fdc-youngdesignerawards.com/
https://twitter.com/FDC_YDA
http://www.facebook.com/pages/Fashion-
Designers-and-Craft-makers-
Network/190789304273133
WWW.ANGELMANTODAY.COM March / April 2015
Cont’d: The designers are: Marlene H' Couture,
Lacie Cupani, Ekwerike chuma, Orli Penny, Simi
Bakare, Linda Blissett, Chloe Mellen, Mireia Vidal,
Vesela Zarankova, Michelle Kasujja, Chelsea
Visda, Naomi Thompson, Lucy Moffat, Deviant
ReBeL - Roberta Baker-Lundy, Mastura Kuzieva
Mumtoz, Mozella Malone, Mireia Vidal, Jacqueline
Ortega, Rean Fisher, Shronne Taylor, Aisha
Ferozee, Louise Mason, Mood' Deo Couture,
Michelle Sotelo, Sakinah Beverett-Llanos,
Vicky Arthur, Malika Rajani, Yvonne Jewnell,
Chanette Laing and Abbie Miriam Ivy Smith.
Designers are from USA, Nigeria, Spain,
Russia, France, and the UK.
Proceeds will go to (FAST) Foundation for
Angelman Syndrome Therapeutics
http://www.cureangelman.org/
WWW.ANGELMANTODAY.COM March / April 2015
Las familias Angelman México, nos reunimos por 2da.
Ocasión a festejar el 15 de Febrero, Día Internacional del
Sindrome de Angelman. El evento se llevó a cabo en Real
del Monte, Hidalgo. Nos dio mucho gusto que nuestro grupo
de familia va creciendo. Conocimos a nuevas familias,
compartimos experiencias, realizamos dinámicas de
integración, baile y lo mas emocionante fue cuando nuestros
pequeños partieron pastel. Todo fue muy bonito!
Fueron 11 familias las que nos reunimos.
Gracias a Faby, Daniel, Rodolfo, Dayra, Luis, Eder, Rafa,
Vale, Omar, Vale y Emilia por haber asistido.
Uno de nuestros principales compromisos es seguir
difundiendo el Sindrome de Angelman y seguir buscando a
mas familias. Recordando siempre que unidos somos mas
fuertes.
Nos vemos en Febrero 2016 en México, D.F.
Saludos y un gran abrazo desde México, revista Angelman
Today.
Dinorah Toledo Ocampo y Antonio Gaytán (papás de
Daniel)
Angelman Families Mexico, met for the 2nd occasion to
celebrate the February 15th, International Angelman
Syndrome Day. The event took place at Real del Monte,
Hidalgo. We were happy that our family group
continues to grow. We met new families, shared
experiences, performed integration dynamics, dancing
and most exciting was when we presented our small
split cake.
Everything was very nice! There were 11 families that
we meet.
Thanks to Faby, Daniel, Rodolfo, Dayra, Luis, Eder,
Rafa, Vale, Omar, Vale and Emilia for attending.
Our main commitment is to continue raising Angelman
Syndrome awareness and continue looking for more
families. Remembering always that together we are
stronger.
See you in February 2016 in Mexico City!
Greetings and a big hug from Mexico, Angelman Today
magazine.
Dinorah Toledo Ocampo and Antonio Gaytan (parents
of Daniel)
WWW.ANGELMANTODAY.COM March / April 2015
WWW.ANGELMANTODAY.COM March / April 2015
WWW.ANGELMANTODAY.COM March / April 2015
Intractable (Drug Resistant) Epilepsy;
1 in 104 people are affected with epilepsy in the
UK** and over 50 million worldwide. It is one
of the most common serious neurological
conditions with approximately 30 different
epilepsy syndromes and over 38 different types
of seizures.
The majority of cases of epilepsy can be treated
successfully with modern anti-epileptic drugs
(AED’s) used either as single agents or in
combination. However, approximately 30% of
cases are classed as having drug-resistant or
intractable epilepsy, where seizures persist
despite the appropriate use of two or more
AED’s and the possibility of achieving seizure
freedom with additional medication is extremely
low.
Ketogenic Dietary Therapies:
The Ketogenic Diet was successfully used in the
treatment of child and adult epilepsy in the
1920’s.
As AED’s became more available the diet was
used less and less often, with expertise being lost
from all but a few centres. However, there has
been a resurgence of interest in Ketogenic
Dietary Therapies for children in recent years,
due to its efficacy in otherwise intractable cases.
The treatment has been clinically validated in a
number of studies and a randomised controlled
trial from Great Ormond Street Hospital (Neal et
al 2008).
Matthew’s Friends – The Background:
Matthew Williams (20) suffers with a catastrophic
form of epilepsy called ‘Dravet Syndrome’ and
his seizures started when he was 9 months old.
Emma, his mother, asked if Matthew could try the
Ketogenic Diet when he was 2 years old, but she
was told the diet didn’t work. So she battled on,
trying innumerable medications which didn’t help
Matthews’ seizures and which caused devastating
side effects.
Six years later, Professor Helen Cross began a
research trial of the Ketogenic Diet at Great
Ormond Street Hospital (GOSH). Matthew and
144 other children with severe epilepsy were
enrolled on the trial. Within 2 weeks of starting
the diet Matthew’s seizures had reduced by 90%
and within 8 months he was off all medication.
Sadly for Matthew, the damage had been done.
Years of seizures had caused terrible brain
damage, his family had broken apart and Emma
was now a single mum to Matthew and his
younger sister Alice.
Inspired by Matthew, she set up Matthew’s
Friends in 2004 to provide information, education,
resources and support for other families. The
charity, which was started at Emma’s kitchen
table, grew at a phenomenal rate. Emma is not
only the Founder/Chief Executive of the
Matthew’s Friends Charity and Director of the
Matthew’s Friends Clinics, but she also works as
the Parent Representative for KetoPAG
WWW.ANGELMANTODAY.COM March / April 2015
Emma and Matthew
(Ketogenic Professional Advisory Group for the
UK and Ireland), she runs the UK Branch of the
Glut1 Deficiency Foundation, acts as an
International Patron for Desi (Diets for
Epilepsy in India) and is also the only non-
medical member of the International League
Against Epilepsy Global Task Force for Dietary
Treatments for Epilepsy. Most recently she has
been honoured with an MBE from HM the
Queen for services to children with epilepsy.
Matthew’s Friends Today: Matthew’s Friends has a distinguished medical
board, chaired by Professor Helen Cross, the
Prince of Wales’s Chair of Childhood Epilepsy.
It has raised over £70,000 for GOSH’s research
into the Ketogenic Diet, as well as providing
funding for numerous centres around the UK.
2011 saw the registration of Matthew’s Friends
New Zealand and is currently forming a new
branch in Canada, as the organisation expands
to include these regions as well as being
involved with over 20 other countries
worldwide in supporting the use of ketogenic
dietary therapies.
The charity has now expanded its remit to help
adults that are failing medication with the use
of the Modified Atkins Diet and Low
Glycemic Index Treatment and works with
the leading experts in this field. More recently
the charity is now working in the field of
certain types of brain cancer and ketogenic
dietary therapies, although it is early days in the
field, the contribution that Matthew’s Friends
makes towards making these diets more widely
available and ensuring it is properly supported
is internationally recognised by both parents
and medical professionals.
The Charity Provides: -A comprehensive website which hosts a busy
parental support forum and medical forum as
well as providing latest research and
information on dietary therapies.
-A helpline which is available to families 365 days a
year.
-National and International workshops and
conferences for both patients and epilepsy health-care
professionals.
-An International network which includes USA,
Canada, Australia, New Zealand, South Africa,
Holland, Denmark, India, Hong Kong, Malta, Turkey
and Portugal.
-A Professional Advisory and Training Service.
-Educational literature, Ketogenic Diet starter packs
and Patient files supplied free of charge to all UK
Ketogenic Centres for their patients.
-Matthew’s Friends Clinics – providing Ketogenic
Dietary Therapies for all who are currently unable to
gain access to local services.
NONE OF THIS IS POSSIBLE WITHOUT......
Fundraising
Matthew’s Friends do not receive any government
funding and are totally reliant on fundraising and
donations. By the time our families find us they are
usually in a VERY bad way, dealing with a worrying
and fraught situation, often fearing for their child’s
life. Asking them to fundraise at this time to help
provide services is not desirable, therefore the small
Matthew’s Friends team have cajoled and badgered
their friends and families to help fundraise over the
years. We welcome ALL help and are delighted to
provide resources such as a justgiving page for
sponsored events, running vests, sponsor forms, t-
shirts and anything else that we can for those willing
to support us. Please do contact us if you can help.
CONTACT:
Telephone: Julie Edwards 01342 836571
Email: [email protected]
Matthew’s Friends c/o Young Epilepsy, St Piers Lane,
Lingfield, Surrey RH7 6PW
www.matthewsfriends.org & www.mfclinics.com
** JEC (Joint Epilepsy Council) 2011 statistic
WWW.ANGELMANTODAY.COM March / April 2015
Thank you! A big thanks to all of the contributors that help bring you Angelman Today!
Angelman Today Supporters:
E-Z-On Products www.ezonpro.com
All of the Angelman and
Associated
Foundations
across the globe
Additional Contributors:
Joanna Marcella (of Fashion Designers’ and Craft makers’ Network)
Aisling Cullen
Shari Caspert
Darren Humphries
Clairy Kourkouta
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 2014 Angelman Today, LLC. All rights reserved worldwide.
CONTRIBUTORS
Marilyn Kennedy
Assistant Editor
Professor Chris Oliver
and his team at FIND Sybille Kraft Bellamy
Dr. Harry Angelman
1915 – 1996
El Dr. Harry Angelman fue un médico Inglés quien
identificó lo que hoy en día se llama Síndrome de
Angelman.
Nació en Birkenhead, Inglaterra. Le fascinaba el idioma
y la cultura de Italia.
El fue el primero quien observó trés niños no
relacionados quienes demostraban síntomas similares –
atrasos severos intelectuales, un modo de andar que era
espasmódico y rígido, ausencia del hablar,
convulsiones, y una disposición contento.
Luego, duranted unas vacaciones en Italia, descubrió
una pintura llamada “Un Niño con una Marioneta,”
creado por el artista del Renascimiento Giovanni
Francesco Caroto, en el museo Castelvecchio en
Verona. La pintura le hizo pensar en los niños que eran
sus pacientes, y le condujo a publicar un artículo
profesional en el año 1965 que describía lo que el
llamaba “Niños Marionetas.” En aquel momento la
importancia de su artículo no fue reconocido como algo
importante.
No pasó nada mas hasta Charles A. Williams y Jaime L.
Frias del departamento de Pedíatra, Divisíon de
Genética, de la Universidad de Florida Colegio de
Medicina de Gainesville, Florida, sometieron un
artículo a la Revista Americana de Genética Médica
explicando estudios de séis pacientes, comparando sus
datos con los de informes previos – incluyendo atrasos
intelectuales severos, el andar como un “marioneta,”
anormalidades cranio-faciales, y espisodios frecuentes
de risas. De repente, se notó que eso era mucho más
común de lo que anteriormente se creía. Ellos
propusieron ponerle el nombre de Síndrome de
Angelman, en honor del Dr. Harry Angelman.
La Historia del Síndrome de Angelman
WWW.ANGELMANTODAY.COM March / April 2015
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Dr. Harry Angelman
1915 – 1996
Dr. Harry Angelman was an English physician
who identified what is now known as Angelman
Syndrome.
He first observed three children who were not
related but showed similar symptoms of severe
intellectual delay; stiff, jerky gait; lack of speech;
seizures; motor disorders; and happy demeanors.
Although Dr. Angelman was born in Birkenhead,
England, he was an enthusiast for the language
and country of Italy. And it was while vacationing
in Italy, he observed an oil painting called A Boy
with a Puppet by the renaissance artist Giovanni
Francesco Caroto at the Castelvecchio museum in
Verona. Reminded of the children he’d observed,
Dr. Angelman published a paper in 1965 that
described what he called “puppet children”. At
this time, his paper was not immediately
recognized as important.
It wasn’t 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, “puppet-
like” 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
WWW.ANGELMANTODAY.COM March / April 2015
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