INCLUDING RESOURCES ● RESEARCH ● INSPIRATION
Angelman
Today
d i g i ta l ma g a z i ne
Upcoming ASF & CASS Conferences
Winners of the Great Bike Giveaway Angelman Syndrome Foundation Walk 2015 www.angelmantoday.com
Angels in Action
May - June EDITOR’S LETTER
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 EMAIL: LIZZIE@ANGELMANTODAY.COM FOLLOW: TWITTER.COM/LIZSORDIA FOLLOW: TWITTER.COM/ANGELMANTODAY
WWW.ANGELMANTODAY.COM
MAY / JUNE 2015
5 16
10
Winner of the Great Bike Giveaway
21
11
7
25
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What’s inside Teeth Tips………………..……….…………5
On the cover:
E-Z-ON Vests……….………………………6
Gavin Staab is 4 years old. From Bettendorf, Iowa
Great Bike Giveaway Winners.................7 Angels in Action...………...……………...10
Photo provided by: The Angelman Syndrome Foundation
The Benefits of Water By Darren Humphries………………….....11 Antipasto Spring Salad……….………….18 Photo’s from the 2014 Angelman Syndrome Foundation Walk………………..………………..……..19
Watermelon Fun Bites……………………20 The History of Angelman Syndrome (Spanish)……………………………..........23 Stay Connected…………………………...24
Angelman and Associated Foundations Canadian Angelman Syndrome Society………………………4 The Angelman Network, New Zealand………………..…………..8 The Angelman Syndrome Foundation………………………….….12
History of AS……………………….….…..25 Parent Recommended Books..………….26
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 CDC’s own evidence reveals Americans already show signs of flourideoverexposure 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: Tom’s of Maine, NOW Foods, Nature’s Plus
Another simple solution that you can make at home is: -Coconut oil Click links to purchase from amazon.com -Baking Soda (works great for gently removing tartar and discoloration).
WWW.ANGELMANTODAY.COM
MAY / JUNE 2015
WWW.ANGELMANTODAY.COM
MAY / JUNE 2015
Angels in Action Will is a Winner!! 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.
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!
On a whim, I decided to enter the Great Bike Giveaway as Will always wants to ride bikes with his friends.
144 Bikes were given away for this years Great Bike Giveaway. https://www.friendshipcircle.org/bikes/
WWW.ANGELMANTODAY.COM
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!
MAY / JUNE 2015
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 year’s event.
“AWARENESS EYES”
WHAT WE DO
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.
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The Angelman Network
Hermant Thakkar with Ursula Cranmer, Chairperson of The Angelman Network with.
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)
HEMANT THAKKAR’S DOCTORAL RESEARCH PAPER 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 children’s 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
Angels in Action
Click to see video
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! WWW.ANGELMANTODAY.COM
MAY / JUNE 2015
The Benefits of Water - Not Just Hydration Darren Humphries New Zealand Father to Elijah - Del + (2004 - 2007) 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. WWW.ANGELMANTODAY.COM
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. MAY / JUNE 2015
Together, we are stronger ASF National Walk 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.
It’s 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.
Team Marli Team Captain Drew Knoedler in memory of his sister, Marli Knoedler Washington, DC
Maisy’s Daisies Aarav’s Angels Team Captain Alpesh Ansodaria for Aarav Philadelphia, PA
www.Angelman.org
Team Captains Dan and Karen Wolff for Maisy Washington, DC
Team Oliver
Team Dylan
Team Captains Chris and Christa Graham for Oliver Ontario, Canada
Team Captains Steve and Jamie for Dylan San Diego, CA
(800) 432-6435
Int’l (630) 978-4245
info@angelman.org
angelman syndrome FUNDED RESEARCH foundation 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 year’s 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 drug Stormy Chamberlain, Ph.D. – University of Connecticut Health Center Two years – $200,000 Better understanding learning and memory deficits in AS mice Hanoch Kaphzan, Ph.D. – University of Haifa, Israel Two years – $200,000
This year’s Wagstaff Fellow Fostering 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 Bachelor’s in 2002 and her Master’s 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.
Examining proteins in brains of AS mice and their effects on AS symptoms Ben Distel, Ph.D. – Academic Medical Center, Amsterdam, Netherlands Two years – $199,705 Validating biomarkers to measure clinical trial success Ben Philpot, Ph.D. – University of North Carolina-Chapel Hill Heather Hazlett, Ph.D. – Carolina Institute of Developmental Disabilities at University of North Carolina-Chapel Hill Ron Thibert, M.D. – Massachusetts General Hospital Two years – $295,970 Select participants will be needed for this study! Please click here for more information.
Click here to register your family and individual with AS, or to update your information, in the ASF’s Contact Registry to receive information about participating in future research studies and other AS-related information.
JOIN US FOR FOUR DAYS OF HOPE.
Hope Inspired isn’t just the theme of the 2015 ASF Biennial Conference—it’s 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
July 15 – 18, 2015 Schaumburg, Illinois A Chicago suburb
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! It’s an experience you WILL NOT WANT TO MISS!
www.Angelman.org
(800) 432-6435
Int’l (630) 978-4245
info@angelman.org
THERE’S NO PLACE LIKE CHICAGO IN THE SUMMER.
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. • Brookfield Zoo • Great America • Woodfield Mall • Concerts at Midwest Amphitheater • Fashion Outlets of Chicago • Key Lime Cove indoor water park and family resort • Chicago Children’s Museum • Art Institute of Chicago • Explore and Much More children’s play space • Kid City children’s play space Register today and join hundreds of families sharing the same journey as you for the 2015 ASF Biennial Conference.
• 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
Try special pufa e and k
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Learn more about the benefits of speak by visiting our website at www.SpeechNutrients.com
SpeechNutrients 800-471-0358 • info@SpeechNutrients.com †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.
Antipasto Spring Salad
GF
LGIT
Ingredients: - Mozzarella Cheese - Colby Jack Cheese - Chopped Green Bell Peppers
-Salami -Italian Salad Dressing -Black Olives Mix it all together and enjoy!
-Pepperoni WWW.ANGELMANTODAY.COM
MAY / JUNE 2015
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.
Quinn Family D.C Walk
Fingold Family Sacramento Walk
WWW.ANGELMANTODAY.COM
Quinn Family D.C Walk
Cecere Family Boston Walk
Quinn Family D.C Walk
Dumas Family SLC Utah Walk MAY / JUNE 2015
Dairy Free
GF *Naturally
Watermelon
Fun Bites
Mmm juicy Nutritious WWW.ANGELMANTODAY.COM
Delicious
Hydrating MAY / JUNE 2015
Russell Family, Orlando Walk
Team Stevie, Chicago Walk
Webb kids, WA Lexi’s Angels, NY Mason, Phoenix Walk
Cameron Family, Orlando Walk WWW.ANGELMANTODAY.COM
Lexi’s Angels, Long Island, NY MAY / JUNE 2015
CONTRIBUTORS
Marilyn Kennedy Assistant Editor
Sybille Kraft Bellamy Parent Expert in Nutrition And LGIT diet
Marilyn@angelmantoday.com
Facebook.com/AngelmanSyndromeDiet
Additional Contributors: Darren Humphries Melissa Winger Cindy Snyder The Staab family
All of the Angelman and Associated Foundations across the globe
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
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.
La Historia del Síndrome de Angelman 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.
Dr. Harry Angelman 1915 – 1996
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. WWW.ANGELMANTODAY.COM
MAY / JUNE 2015
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The History of Angelman Syndrome 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.
Dr. Harry Angelman 1915 – 1996
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, “puppetlike” 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.
WWW.ANGELMANTODAY.COM
MAY / JUNE 2015
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