angelman today may - june edition 2015
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. Inside this issue: Information about the upcoming Canadian Angelman Syndrome Society and Angelman Syndrome Foundation conferences. EZ-ON Custom Vest Winner of the Great Bike Giveaway and more.TRANSCRIPT
-
Angelman Today
INCLUDING RESOURCES RESEARCH INSPIRATION
digital magazine
www.angelmantoday.com
Winners of the Great Bike Giveaway
Angelman Syndrome
Foundation Walk
2015
Upcoming ASF & CASS Conferences
Angels in
Action
-
May is here and many of us in the US are getting ready for the annual walk for the
Angelman Syndrome Foundation. This will be my 5th year hosting the walk in Florida.
Our family looks forward to it all year.
When my son Nathan was diagnosed at 2 and a half years old, we left the Geneticists
office pondering on what she had just told us. She said Angelman Syndrome was rare
but I did not truly understand what that meant to the general population of people.
Was he the only one in Florida? I remember feeling so isolated.
Fast forward just a few quick years and our Florida walk has grown close to 300
people, my Angelman family.
I was so honored when our walk was featured on the cover of Celebration Life
Magazine last year. We have come so far in a very short amount of time. All because
of the amazingly hardworking people in this community. Cheers to all of the parents
that continue to volunteer their time and efforts raising awareness so newly diagnosed
families never feel so isolated, but supported.
Warm Wishes,
Lizzie Sordia
Editor - in - Chief
Lizzie Sordia
Editor - in - Chief
WWW.ANGELMANTODAY.COM MAY / JUNE 2015
EDITORS LETTER
May - June
EMAIL: [email protected]
FOLLOW: TWITTER.COM/LIZSORDIA
FOLLOW: TWITTER.COM/ANGELMANTODAY
-
5
5
Teeth Tips...5 E-Z-ON Vests.6 Great Bike Giveaway Winners.................7 Angels in Action.........10 The Benefits of Water By Darren Humphries.....11 Antipasto Spring Salad..18 Photos from the 2014 Angelman Syndrome Foundation Walk......19 Watermelon Fun Bites20 The History of Angelman Syndrome (Spanish)..........23 Stay Connected...24 History of AS....25 Parent Recommended Books...26
Whats inside
Angelman and Associated
Foundations Canadian Angelman Syndrome Society4 The Angelman Network, New Zealand....8 The Angelman Syndrome Foundation..12
25
On the cover: Gavin Staab is 4 years old.
From Bettendorf, Iowa
Photo provided by: The Angelman
Syndrome Foundation
10 7
Winner of the
Great Bike Giveaway
16 21 11
WWW.ANGELMANTODAY.COM MAY / JUNE 2015
-
Save the Date -- CASS Conference in 2016!
VENUE FOR EDMONTON 2016 CONFERENCE SELECTED
Conference Co-chairs Terry Singleton and Kent Fleming advise
newsletter readers that the CASS Board has approved the Double Tree by
Hilton in Edmonton as the venue for the 14th International Conference of
the Canadian Angelman Syndrome Society, scheduled for 13 to 16 July
2016.
Watch the CASS Newsletter and Website www.angelmancanada.org for
continuing updates as planning proceeds. Thank you, everyone, for
helping to get the word out about your Edmonton 2016 Conference!
We look forward to welcoming you to an informative and enjoyable
conference.
Please stay tuned to the CASS website for News Flash Updates on this
exciting event!
www.angelmancanada.org
WWW.ANGELMANTODAY.COM MAY / JUNE 2015
-
Teeth
Tips
Flouride is newly classified as a developmental neurotoxin by medical authorities in the March 2014 Journal Lancet Neurology.
Developmental neurotoxins are capable of
causing widespread brain disorders such as
Autism, Attention deficit hyperactivity
disorder, learning disabilities, and other
cognitive impairments. The harm is often
untreatable and permanent.
The CDCs own evidence reveals
Americans already show signs of flouride-
overexposure and reports that 41% of
American teenagers have dental fluorosis.
Individuals with Angelman Syndrome may
have a difficult time not swallowing the
toothpaste when brushing. Avoiding
exposure is best.
Notice the warnings on the back of most tubes
of toothpaste containing flouride.
Here are some options that may help
Purchase Flouride Free Tooth paste. We listed
a few brands: Toms of Maine, NOW Foods,
Natures Plus
Another simple solution that you can make at
home is:
-Coconut oil
-Baking Soda (works great for gently
removing tartar and discoloration).
Click links to purchase from amazon.com
WWW.ANGELMANTODAY.COM MAY / JUNE 2015
-
WWW.ANGELMANTODAY.COM MAY / JUNE 2015
-
Will (iam) was diagnosed with UPD
Angelman Syndrome in October 2011
and epilepsy in June 2014 and the road
ever since has been anything but easy.
Between breakthrough convulsive
seizures, adverse reaction to two
medications (Keppra and Trileptal),
hospital stays, high valium levels, we
finally found seizure control in Depakote
in February 2015. Now we struggle with
aggression and are trying to work through
that.
On a whim, I decided to enter the Great
Bike Giveaway as Will always wants to
ride bikes with his friends.
We received the required number of
votes via amazing friends and family
that made him eligible for the raffle
and stopped promoting it there. I had
basically forgotten about the contest
until a friend posted on my wall that
Will had won the raffle!
He is still learning to pedal and control
the bike, but I'm so excited he has the
ability to keep up with his friends this
summer when they ride their bikes!
144 Bikes were given away for this
years Great Bike Giveaway.
https://www.friendshipcircle.org/bikes/
WWW.ANGELMANTODAY.COM MAY / JUNE 2015
Angels in Action Will is a Winner!!
-
News from New Zealand
Hi to all, from down-under! Our
families in Auckland enjoyed a
glorious summer day in February
to celebrate International Angelman Day.
To raise awareness for Angelman
syndrome, we booked a stall at an all-day music
event a Forest Festival. This provided the
perfect location for families to relax,
reconnect and be visible in the community.
Dressed accordingly, we brought along our
picnic blankets, baskets, sunhats and
sunglasses. Enthusiastic families, friends,
artists and carers joined us in support, and
helped make the day a great success.
Children paid a gold coin donation to create
their own awareness eyes. They decorated
colourful masks with glitter, stickers and
feathers. The Angelman Network posters
were on prominent display and brochures
were distributed throughout the day. Our donation buckets filled up as raffle tickets
were circulated and sold. It was a productive, social and magical day, with music, food,
sunshine, fun and creativity. We are already looking forward to next years event.
The Angelman Network is a
charitable trust based in New
Zealand that aspires to
connect and support those
affected by Angelman
syndrome.
We have a global network
that connects families,
organisations and specialists.
Funds we raise go towards
family grants, resources and
small research grants.
.
WHAT WE DO
AWARENESS EYES
-
The Angelman Network is seeking to fund research that will assist
providers and policy-makers in the
disability sector on how best to support
families and individuals affected by rare
disorders, such as Angelman syndrome.
It is our hope that well researched
material with relevant data will help them
make better, more informed decisions
when designing service models.
1. Research on When I am no longer alive https://unidirectory.auckland.ac.nz/profile/h-thakkar. The Angelman
Network has awarded Hemant Thakkar a small grant to support his Doctoral
Research at the University of Auckland. Hemant has over 20 years of
experience in the disability sector and has worked in the areas of special
education, support service provision, disability responsiveness training, work
place assessment, social policy, and promotion and protection of consumer
rights. (More on his paper in the column on the right)
2. Research on the supportive care needs of parents Lemuel Pelentsov (BHSc(Hons), GDip(Emerg), BN ) is a lecturer based in
Adelaide, Australia. He is undertaking a PhD that investigates the supportive
care needs of parents who care for a child with a rare disease. He is also a
father of a child diagnosed with a rare disease. A major part of this research is
to undertake an international online survey of affected parents. The survey is currently available internationally until June. If your child with AS is
aged 18 years or younger and living at home, PLEASE PARTICIPATE!
Click here to take the survey: https://www.surveymonkey.com/s/3NYKPH6
The information obtained from this study should eventually lead to more
appropriate individualised supportive care for parents.
Through this research, Lemuel is aiming to:
Give parents of children with rare diseases an opportunity to have
their voices heard and their needs recognized
Develop a tool for use by health professionals to assist them in
identifying parental support needs.
To improve the way health providers identify needs, tailor support
and plan and implement services within the rare disease community.
This study has been approved by the University of South Australia Human Research
Ethics Committee (Protocol: 0000031772) and is being supported by Rare Voices
Australia (RVA), EURORDIS, Association of Genetic Support of Australasia (AGSA),
Genetic and Rare Disease Network (GaRD), and Genetic Support Network of Victoria
(GSNV)
When I am no longer alive:
Understanding the wishes, the
worries and the support needs of
the parents of severely disabled
adults.
The Angelman Network has awarded
a small grant to help fund this
Doctoral paper.
Sooner or later, a question that starts
concerning most parents of severely
disabled children is what will happen
to my child when I am no longer alive?
For most parents, their support
network would comprise of formal
(publicly funded) supports and
informal supports (provided
voluntarily by their extended family
members and friends This qualitative
study seeks to gain insight into the
aspirations and apprehensions of the
parents of severely disabled adults
living in India and New Zealand
concerning long-term care and
wellbeing of their children including
the support mechanisms that they
consider and value as being useful for
their childrens future.
The findings of this study will assist in
making useful recommendations to
policy makers on designing service
models that are both efficient (in
terms of cost) and effective, in terms
of their usefulness to meet the needs
of severely disabled adults and their
families.
If you are interested in this field of
research or have any questions on these
studies, contact The Angelman Network.
www.angelmannetwork.com
HEMANT THAKKARS DOCTORAL RESEARCH PAPER
Hermant Thakkar with Ursula
Cranmer, Chairperson of
The Angelman Network
with.
-
WWW.ANGELMANTODAY.COM MAY / JUNE 2015
Angels in Action
P.J. Snyder crossing the finish line last August at the Boulder
Ironman. His partner Dennis, with Athletes in Tandem, finished
the 140 mile event in 15.5 hours. What an awesome experience!
Click to see video
-
Of all the place in the world that Elijah was the
most comfortable - it was in water that he
thrived. The only time we ever lost Elijah inside
the house was water related. He managed to get
into the bathroom, close the door behind
himself, get into the shower and close the door
behind himself and sit splashing in the remnants
of water. In the end it was his giggling as he
splashed that gave him away.
Even though fascination with water is one of
those characteristics of those whose lives are
impacted with Angelman Syndrome, water
satisfied Elijah in at least two ways.
Firstly, it satisfied a sensory need in him to
interact with water and was
always pleasurable for him. Water always
resulted in smiles and giggles - both very
appropriate to the interaction. Who doesn't
smile when interacting with water at pool,
beach or shower, bath etc. There is a basic
connection for human beings and water.
Secondly, water was liberating for Elijah, it was
in or on water that he was able to achieve many
things that were not possible for him outside of
water. It provided an environment of balance
for him. It was in water that he did not have the
challenge of carrying his own weight. Much to
the joy of his family it was in a pool with a
flotation ring around him he took his first
unaided steps. There are many who know the
utter and profound joy that arises in us when
this happens for the first time. Elijah would
walk many steps unaided in the pool before he
was even up to pulling himself up and furniture
surf outside of water. And Elijah knew he could
do it.
It was recommended that we take Elijah to
hydrotherapy and so we did every week while
his older sister Francesca went to piano lessons
with her mum, I took Elijah swimming. He was
always looking forward to and excited to go to
the pool. This was a private pool where the
staff worked with children and adults of
varying abilities. This went on for sometime,
and we would also go to the local pool where
he would be mobile. Not unlike his sister both
were born in water and so when it came to
getting out it was always a challenge and met
with signs of refusal and objection. These were
responded to by promises of returning again
soon which we did.
WWW.ANGELMANTODAY.COM MAY / JUNE 2015
The Benefits of Water - Not Just Hydration
Darren Humphries New Zealand
Father to Elijah - Del + (2004 - 2007)
-
www.Angelman.org (800) 432-6435 Intl (630) 978-4245 [email protected]
Together, we are stronger
Congratulations to the Top 5 Fundraising Teams!As of April 1, these five teams raised the most in online credit card donations to support AS research and families! Congratulations and THANK YOU to each of these teams, and to every ASF National Walk participant for your dedication, hard work and unwavering support for our loved ones with AS.
Team MarliTeam Captain Drew Knoedler in memory of his sister, Marli KnoedlerWashington, DC
Aaravs AngelsTeam Captain Alpesh Ansodaria for AaravPhiladelphia, PA
Team OliverTeam Captains Chris and Christa Graham for OliverOntario, Canada
Maisys DaisiesTeam Captains Dan and Karen Wolff for MaisyWashington, DC
Team DylanTeam Captains Steve and Jamie for DylanSan Diego, CA
ASF National Walk
Its Not Too Late To Fundraise!Fundraising for the ASF National Walk continues until we reach our goal of $1.25 million for AS research and family support! THANK YOU for your generous support of our loved ones with AS.
-
Together, we are stronger
Your support granted $1 million to AS research ASF-funded research will conduct clinical and pre-clinical research aimed at finding therapeutics, establishing biomarkers for future clinical trials, and improving symptoms of AS. Following last years ASF National Walk, the ASF committed more than $1 million to advance AS research, and has granted those funds to the following projects. These studies are unique, innovative approaches to resolving AS symptoms and understanding the genetic complexities of AS. The AS research community continues to grow and move us in the direction of ultimately finding a cure for AS!
Testing human neurons with UBE3A-expressing drugStormy Chamberlain, Ph.D. University of Connecticut Health CenterTwo years $200,000
Better understanding learning and memory deficits in AS mice Hanoch Kaphzan, Ph.D. University of Haifa, Israel Two years $200,000
Examining proteins in brains of AS mice and their effects on AS symptomsBen Distel, Ph.D. Academic Medical Center, Amsterdam, NetherlandsTwo years $199,705
Validating biomarkers to measure clinical trial successBen Philpot, Ph.D. University of North Carolina-Chapel HillHeather Hazlett, Ph.D. Carolina Institute of Developmental Disabilities at University of North Carolina-Chapel HillRon Thibert, M.D. Massachusetts General HospitalTwo years $295,970Select participants will be needed for this study! Please click here for more information.
This years Wagstaff FellowFostering the next generation of AS researchers, the Joseph E. Wagstaff Fellowship is awarded annually to budding AS researchers to further advance the community in creating treatments and ultimately a cure. Congratulations to Shalaka Mulherkar, Ph.D., with Baylor College of Medicine!
Dr. Mulherkar has a strong publication record and is already considered to be a highly accomplished neurobiologist by her mentors. Dr. Mulherkar received both her Bachelors in 2002 and her Masters in 2004 from the University of Mumbai where she studied the molecular changes associated with learning and memory in the giant African snail Achatina fulica. She began studying AS during her graduate work at the National Brain Research Centre in Haryana, India from 2004 to 2010. Her doctoral thesis was titled Characterization of motor deficits in a mouse model of Angelman Syndrome: Role of Ube3a/E6-AP in dopaminergic neurons. Since 2011 she has been involved in postdoctoral studies at Baylor College of Medicine. The Baylor environment, where she has the opportunity to interact with other AS, is uniquely well suited to support her continued interest in AS research and scientific development.
Learn more about her ASF grant and work here.
Click here to register your family and individual with AS, or to update your information, in the ASFs Contact Registry to receive information about participating in future research studies and other AS-related information.
angelmansyndromefoundation
FUNDED RESEARCH
-
www.Angelman.org (800) 432-6435 Intl (630) 978-4245 [email protected]
July 15 18, 2015Schaumburg, Illinois
A Chicago suburb
Hope Inspired isnt just the theme of the 2015 ASF Biennial Conferenceits a way of life for all families touched by Angelman syndrome. Join us for Hope Inspired by research, knowledge, community, awareness and support.
View the Conference schedule! Click here to learn more about the speakers and their topics, and the variety of breakout sessions available for families to interact with experts and other families.
REGISTER TODAY! Registration to Hope Inspired is FREE, thanks to the generous support of ASF donors who offset the costs of hosting the Conference.
You will go home with new ideas, knowledge, enthusiasm, and friends to support you and your loved one with AS on your journey!
Click here to read about other families experiences at ASF Conferences! Its an experience you WILL NOT WANT TO MISS!
JOIN US FOR FOUR DAYS OF HOPE.
-
THERES NO PLACE LIKE CHICAGO IN THE SUMMER.
Brookfield Zoo
Great America
Woodfield Mall
Concerts at Midwest Amphitheater
Fashion Outlets of Chicago
Key Lime Cove indoor water park and family resort
Chicago Childrens Museum
Art Institute of Chicago
Explore and Much More childrens play space
Kid City childrens play space
Wrigley Field historic ballpark
Museum of Science and Industry
Michigan Avenue city thoroughfare with
Magnificent Mile
360 Chicago observation deck
Buckingham Fountain landmark fountain
Garfield Park Conservatory
Lincoln Park Zoo
Chicago is full of fun family attractions you can visit during your stay in Schaumburg, a close Chicago suburb. While attending Hope Inspired, find time for your family to enjoy all that this destination has to offer.
Register today and join hundreds of families sharing the same journey as you for the 2015 ASF Biennial Conference.
-
These statements have not been evaluated by the Food and Drug Administration. This product is not intended to diagnose, treat, cure or prevent any disease.
Pediatrician Formulated SPEECHNUTRIENTS SPEAK
SpeechNutrients speak is a proprietary, patent-pending formulation developed by a pediatrician for children with special nutritional requirements.speak contains a unique blend of 7 nutrients including EPA and DHA omega-3, d-alpha and gamma tocopherols (vitamin E), vitamins K1 and K2, and GLA.
Supports cognitive function Provides antioxidant support Ultra-purified and concentrated formulation
Learn more about the benefits of speak by visiting our website at www.SpeechNutrients.com
800-471-0358 [email protected]
SpeechNutrients
Try
Today!special pufa e and k
-
Antipasto Spring Salad
WWW.ANGELMANTODAY.COM MAY / JUNE 2015
GF LGIT
Ingredients:
- Mozzarella Cheese
- Colby Jack Cheese
- Chopped Green Bell Peppers
-Pepperoni
-Salami
-Italian Salad Dressing
-Black Olives
Mix it all together and enjoy!
-
Gavin Staab and his family and friends will be participating in the Angelman Syndrome Foundation 2015 walk in Naperville, Illinois. This will be Gavin's second Walk. Gavin Staab was diagnosed with Angelman Syndrome on April 29, 2013 at two and a half years old. We are grateful for our family and friends that support Gavin either by generous donations, participate in the walk, or do both. The walk is a positive way to spread awareness of Angelman Syndrome to others. While at the walk it is a welcoming environment to interact with other families who are going through similar daily challenges. Everyone's story is different, but there is a great sense of understanding that only parents of a child with Angelman Syndrome can know. The support we feel is amazing. The look on Gavin's face when we tell him that all these people are there walking for him is priceless. Gavin experiences Angelman Syndrome every waking moment and so do we. Our family and friends do all they can for us as we are on this journey with Angelman Syndrome. Gavin is now four and a half years old and continues to make daily strides in all his skills. We are so proud of him and how hard we work to help him achieve success in his own way. Gavin lives in Bettendorf, Iowa with his dad, Jeff, mom, Julie, big brother, Connor, and little sister, Audrey. We are excited for May 16th and the Angelman Syndrome Foundation Walk.
WWW.ANGELMANTODAY.COM MAY / JUNE 2015
Quinn Family D.C Walk Quinn Family D.C Walk Quinn Family D.C Walk
Fingold Family Sacramento Walk Cecere Family Boston Walk Dumas Family SLC Utah Walk
-
WWW.ANGELMANTODAY.COM MAY / JUNE 2015
GF
Dairy
Free
Watermelon
Fun Bites
Mmm juicy
*Naturally
Nutritious Delicious Hydrating
-
WWW.ANGELMANTODAY.COM MAY / JUNE 2015
Team Stevie, Chicago Walk Russell Family, Orlando Walk
Webb kids, WA
Mason, Phoenix Walk
Lexis Angels, Long Island, NY Cameron Family, Orlando Walk
Lexis Angels, NY
-
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
Speech Nutrients www.speechnutrients.com
All of the Angelman and
Associated
Foundations
across the globe
Additional Contributors:
Darren Humphries
Melissa Winger
Cindy Snyder
The Staab family
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 [email protected]
Sybille Kraft Bellamy
Parent Expert in Nutrition
And LGIT diet Facebook.com/AngelmanSyndromeDiet
-
Dr. Harry Angelman
1915 1996
El Dr. Harry Angelman fue un mdico Ingls quien
identific lo que hoy en da se llama Sndrome de
Angelman.
Naci en Birkenhead, Inglaterra. Le fascinaba el idioma
y la cultura de Italia.
El fue el primero quien observ trs nios no
relacionados quienes demostraban sntomas similares
atrasos severos intelectuales, un modo de andar que era
espasmdico y rgido, ausencia del hablar,
convulsiones, y una disposicin contento.
Luego, duranted unas vacaciones en Italia, descubri
una pintura llamada Un Nio 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 nios que eran
sus pacientes, y le condujo a publicar un artculo
profesional en el ao 1965 que describa lo que el
llamaba Nios Marionetas. En aquel momento la
importancia de su artculo no fue reconocido como algo
importante.
No pas nada mas hasta Charles A. Williams y Jaime L.
Frias del departamento de Pedatra, Divison de
Gentica, de la Universidad de Florida Colegio de
Medicina de Gainesville, Florida, sometieron un
artculo a la Revista Americana de Gentica Mdica
explicando estudios de sis 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 not que eso era mucho ms
comn de lo que anteriormente se crea. Ellos
propusieron ponerle el nombre de Sndrome de
Angelman, en honor del Dr. Harry Angelman.
La Historia del Sndrome de Angelman
WWW.ANGELMANTODAY.COM MAY / JUNE 2015
-
STAY CONNECTED ON THE GO
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY
AND NOW IN THE APP STORE!
-
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 hed 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 wasnt 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 MAY / JUNE 2015
-
Books Recommended by Parents
-
Connect with us on
Thanks for your support!
Please Share Angelman Today
www.angelmantoday.com