INCLUDING RESOURCES ● RESEARCH ● INSPIRATION
Angelman
Today
d i g i ta l ma g a z i ne
Back to School
3 Angels in Action www.angelmantoday.com
Great Giveaways
September - October EDITOR’S LETTER Fall is here and it is time for the kids to head back to school! After many failed attempts to find a program for my son Nathan, I am so happy to report we finally found a school that I feel comfortable with that will support his needs. After 7 years, I will finally have some time for myself. Now, what will I do with all of this time? When I was in the beginning stages of developing Angelman Today, it was my desire to be able to tell the story of how Angelman Syndrome came to be known. Shortly after Nathan’s diagnosis, as I learned the history, I thought it was so fascinating. As a parent, I felt other parents across the globe would also want to know. I didn’t know how I was going to do it, I certainly do not speak multiple languages to be able to have conversations with everyone. It is this amazing community that is making it happen! The History of Angelman Syndrome has now been translated into Spanish, Italian, Portuguese, German, Basque, Turkish, Greek, Czech, Hungarian and more! The response is amazing! If you would like to help us raise awareness across the globe and translate the history of Angelman Syndrome, please email me. I hope you all have a wonderful fall season and for those in school, a great supportive school year. Warm Wishes,
Lizzie Sordia Editor - in - Chief Lizzie@angelmantoday.com Twitter.com/lizsordia Twitter.com/angelmantoday
WWW.ANGELMANTODAY.COM
September / October 2012
5 11
12
17
24
31
32
Editor’s Letter…………..……….……..……2 Benefits of Lemon Water ..………….……5
What’s inside On the cover:
Angel Parent Quote…………………….….6
Maddy, age 9
Angels in Action………………..................7
Photo provided by:
Angel Parent Quote..………………….......9
Chris and Theresa Starks
If I Need Help Giveaway………………….10 The History of Angelman Syndrome (German)………………………….............11 The History of Angelman Syndrome (French)……………………….……….…..12
Angels Week Off Vacation Giveaway…....…………..……..13 Angels in Action...………...………….…...24 Power Packed Protein Cookie…………..25 The History of Angelman Syndrome (Spanish)……………………………..........23
Must See Documentaries……..……..32 Stay Connected……………….……...35
History of AS………………….…..…..36 Parent Recommended Books………………………………….37
Angelman and Associated Foundations
Angel Parent Quote……………………….27
Canadian Angelman Syndrome Society………………………4
Harvard University Music Research........28
Associazione Angelman Onlus…...…17
Healthy After School Snack….…………..31
WWW.ANGELMANTODAY.COM
The Angelman Syndrome Foundation……………….…….………18
September / October 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
September / October 2015
The benefits of drinking lemon water
*High in vitamin C which helps boost the immune system *Reduces fever naturally *Breaks down congestion *Helps a soar throat *A digestive aid, relieves constipation
*Detoxifying *Balances PH Forget about the same ol’ OJ from concentrate in the morning unless juicing it fresh at home.
WWW.ANGELMANTODAY.COM
---------------------------------------------------------
Drinking lemon water daily has many great benefits:
Editor’s Pick For prevention and cold/flu season we skip the vaccine and boost the immune system naturally. Here is what you will find in my cabinet: Vitamin A, Vitamin C, Zinc, and Echinacea
Click on images to purchase on amazon.com
September / October 2015
“
One thing I know for sure is that being the parent of a child with Angelman Syndrome has taught me about true love -- a love that means I'm learning (albeit slowly) to both give and receive help, to extend a lot of grace (to myself and others) and to live in a way that demands nothing in return.
“
-Lisa Jamieson Speaker/Author
Angelman
Today
Angels in Action Celebrating the Abilities of our Angels
Maddy Age,9
By Chris Starks, Father to Maddy Madison Jordan Starks is our beautiful albino Angel that has truly blessed our family with her presence and her smile. Her ability to capture everyone's attention with her blue eyes and long curly blond hair is a wonder and the norm everywhere we go. Madison is deletion + and suffers from seizures only when she is either overly exhausted or has a fever. Although Madison can't talk and is limited on how long she can walk on her own due to her being visually impaired she has made great strides to become more independent. Maddy as she is affectionately known is the pride of her school and with the assistance of a strong team she has defied the odds by becoming more self dependent with helping us dress her, trying to wash herself and feeding herself. WWW.ANGELMANTODAY.COM
We watch her everyday amazed at the goodness of God, she has accomplished so much that the doctors and specialist said she would never achieve. She is truly an Angel on earth. Madison enjoys long baths or anything involving water, she loves to eat muffins, mac & cheese, burgers, and mashed potatoes. Maddy loves watching Frozen and her favorite shows come on Disney Jr and Nick Jr. Her favorite toy is a basketball just like her daddy but above everything Madison enjoys music of all types. Her latest achievement is that we now both get to wake up to the sound of her voice calling mommy and daddy. We wake up with great anticipation of her next achievement. The sky is the limit. September / October 2015
Maddy Facts about Albinism in Angelman Syndrome: -On a rare occasion deletion + individuals can have a second genetic disorder. This disorder is OCA2 (also known as the P gene) located close to the AS gene that is also missing.
-Albinism in Angelman Syndrome is very rare and may occur in less than 1%. -Severe visual impairment and increased incidence of strabismus is often reported. References: From Facts about AS, 2009 angelman.org Dr. Charles Williams - Professor of Pediatrics and Medical Genetics
WWW.ANGELMANTODAY.COM
September / October 2015
“
I am so blessed to have been "adopted" into the AS family when I adopted my son almost 20 years ago. PJ was a former student and I have never regretted the decision to adopt. What a joy to have met so many wonderful AS families along our journey.
-Cindy Snyder
“
Angelman
Today
“If I Need Help” and “Angelman Today” care so much about this community and the safety of individuals with Angelman Syndrome. Now we have partnered up to offer you this great giveaway!
Enter to win www.angelmantoday.com
-5 Winners will receive 4 patches. -2 Winners will receive 2 custom shoe tags.
Enter Promo Code: Angelman Today for 5% off your 1st Purchase
WWW.ANGELMANTODAY.COM
September / October 2015
Die Geschichte des Angelman-Syndrom (German Translation)
Doktor Harry Angelman war ein englischer Kinderarzt mit dem Schwerpunkt Neurologie, der das AngelmanSyndrom entdeckte und bekannt machte. Doktor Angelman wurde in Birkenhead in England geboren. Er interessierte sich sehr für das Land Italien und seine Sprache. Zu Beginn beobachtete er drei nicht miteinander verwandte Kinder, die alle ähnliche Symptome aufwiesen: starke Entwicklungsverzögerung, Steifheit, ruckartiger Gang, Sprachmangel, epileptische Anfälle, motorische Störungen aber auch ein meist zufriedenes, glückliches und fröhliches Auftreten. Zu einem späteren Zeitpunkt, während eines Urlaubsaufenthaltes in Italien, entdeckte Angelman das Ölgemälde 'Junge mit Puppe' von Giovanni Francesco Caroto im Castelveccio Museum in Verona.
An die beobachteten Kinder erinnert, veröffentlichte Doktor Angelman 1965 einen Artikel, der sogenannte 'Puppen Kinder' beschrieb. Zu diesem Zeitpunkt wurde sein Artikel noch nicht sofort als wichtig erkannt. So blieb es bis zum Jahre 1982, in dem Charles A. Williams und Jamie L. Frias von der medizinischen Universität in Florida in Gainesville (Kinderklinik, Abteilung Genetik) einen Artikel beim Amerikanischen Journal für medizinische Genetik einreichten. Die Studie berichtete von sechs verschiedenen Patienten und verglich deren Informationen mit früheren Berichten über Patienten. Alle mit starker Entwicklungsverzögerung, 'puppenartigem' Gang, veränderte Schädel- und Gesichtsform (kraniofaziale Abweichungen) und regelmässigen Lachanfällen. Somit wurde klar, dass das Syndrom verbreiteter war als bis dahin angenommen. Williams und Frias schlugen vor, die Behinderung in "Angelman Syndrom" um zu benennen.
Dr. Harry Angelman 1915 – 1996
Angelman
Today
En 2015 nous commémorons les 100 ans de la naissance du docteur Harry Angelman et les 50 ans de la découverte du syndrome d’Angelman. C’est un médecin anglais, le docteur Harry Angelman, qui a le premier, en 1965, rapporté ses constatations chez trois enfants atteints du syndrome qui porte maintenant son nom. Ce médecin avait remarqué que les trois enfants présentaient une démarche guindée et sautillante, riaient d’une façon excessive, avaient des crises d’épilepsieet avaient une petite tête aplatie à l’arrière. Harry Angelman est né à Birkenhead le 13 août 1915 et a suivi les cours de médecine à l’université de Liverpool. Il avait observé trois enfants qui étaient sans rapport, mais avec des symptômes similaires (sévérité des troubles intellectuels, absence de langage verbal, troubles moteurs et comportement heureux). Il s’interrogeait quant à savoir s’il devait publier ses conclusions. C’était un passionné de l’Italie et de la langue italienne, et lors d’un séjour en Italie, qu’il a vu un tableau qui semblait caractériser les symptômes qu’il avait observés. La peinture représentait un jeune garçon tenant un dessin d’une marionnette à la main et était l’œuvre d’un artiste de la Renaissance Giovanni Francesco Caroto. Et dans son bulletin de 1965, il décrit ceux qu’il appelle «les enfants de marionnettes ». Le docteur Angelman (Angelman, 1991) a raconté ce qui suit à propos de sa découverte : «L’histoire de la médecine est remplie d’anecdotes intéressantes se rapportant à la découverte des maladies. La saga du syndrome d’Angelman est l’une de ces histoires intéressantes. C’est de façon purement fortuite qu’il y a environ trente ans, trois enfants handicapés ont été admis à différents moments dans mon service de pédiatrie en Angleterre. WWW.ANGELMANTODAY.COM
Ils avaient un certain nombre d’anomalies et, bien qu’à première vue ils aient semblé souffrir d’affections différentes, j’ai eu l’impression que leur maladie se rattachait à une même cause. Le diagnostic était uniquement clinique puisque, en dépit de recherches biologiques poussées et aujourd’hui encore plus raffinées, il m’a été impossible de prouver scientifiquement que les trois enfants avaient le même handicap. Étant donné ce fait, j’ai hésité à faire part de mes constatations dans les revues médicales. Un jour, en vacances en Italie, je suis tombé sur une toile intitulée « Fanciullo con pupazzo » (le garçon à la marionnette) au musée du Castelvecchio de Vérone. Le rire de l’enfant et le fait que mes patients présentaient des mouvements saccadés me donna l’idée d’écrire un article sur les trois enfants que j’avais vus et auxquels j’attribuais le qualificatif d’enfants marionnettes. Ce qualificatif n’a pas plu à tous les parents mais il a servi à regrouper les trois jeunes malades sous une même étiquette. Plus tard, on a employé le nom de syndrome d’Angelman. L’article publié en 1965 a d’abord suscité un certain intérêt, puis il a été oublié jusqu’au début des années 80. En fait, plusieurs September / October 2015
The Angel Wings Foundation is bringing you an Angelman Today Exclusive Vacation Giveaway!
WWW.ANGELMANTODAY.COM
September / October 2015
Last year, the Angel Wings Foundation hit upon a novel idea. How about giving someone a vacation? Someone who could really use it …someone who deserves it …someone who might actually need it to reset their lives. Well, we did just that and it worked out better than we could’ve ever imagined. So this year we’re doing it again! One deserving Angelman family will win an all expense paid vacation to a music and wine event in Napa, California called “Live In The Vinyard.” We realize that this isn’t scientific research or new breakthrough therapy techniques or an awareness campaign. All of those things are certainly vital and crucial to our collective journey as Angelman parents. We cheer them on and support them wholeheartedly. But we at the Angel Wings Foundation want to wrap our arms around the Angelman community and give hugs wherever and whenever we can. We know how fatiguing constant caregiving can be. We also know how isolating it can be for the Angel to only see the same people day in and day out. So this “Angel Week Off” is just as much for the Angels as it is for the parents. We will send in a male and female caregiver to the family’s home to give the Angel a week off as well. Activities will be planned every day that don’t include mom and dad. After all, everybody needs a break from mom and dad sometimes. Besides, mom and dad will be getting a massage or golfing or horseback riding or drinking wine and listening to music somewhere in Northern California!
WWW.ANGELMANTODAY.COM
So here’s what you do …write an essay (500 words or less) describing your Angelman journey. We all have one and they are all deserving of a great vacation. But we can only do one at a time right now …sorry. An all-star panel of judges will read the entries and narrow them down to a top 5. The they will reread them and ONE family will win the vacation. The panel consists of people from Make-AWish, Best Buddies, Special Olympics, Angelman Today and one board member from the Angel Wings Foundation. I don’t read them. I just get to call you and tell you you’ve won …I love that part. All entries must be in by Thanksgiving Day, 2015. A winner will be chosen and announced on Christmas Eve …what a great Christmas gift! Then, we will start making arrangements for the vacation that will take place in April of 2016. A family member or designated care giver (in charge) must be present with our caregivers. So keep that part in mind. Safety first! Last year’s winners, Mary and Rory, were so moved by the experience they have asked if they can donate to this year’s winner. I think that speaks for itself. They sent in a video to encourage everyone to enter. Hopefully one day, we’ll be able to do this many times a year. But for this year, we can’t wait to read the entries and award some amazing Angel family a break and a time they will never forget.
We love you all. Now get to writing! Email they essay entry to: AngelsWeekOff@angelmantoday.com
September / October 2015
médecins ne voulaient pas reconnaître qu’il existait une telle affection. Toutefois, au cours des dix dernières années, des médecins américains et anglais ont donné au syndrome des bases solides qui permettent maintenant d’établir le diagnostic au-delà de tout doute.
Après le décès du Docteur Angelman en 1996, son épouse Audrey est restée particulièrement active et proches des familles. Elle a continué de soutenir les familles lors des rencontres et de promouvoir la sensibilisation au syndrome d’Angelman jusqu’à son décès en 1999. Et en 2013 des associations de familles de nombreux pays à travers le monde ont unis leurs forces, en créant un collectif informel pour commémorer la première Journée Internationale du Syndrome d’Angelman. Depuis cette journée a lieu chaque année le 15 février. … « Quand le diagnostic Angelman vient d’être posé, je dis au parents de l’enfant : » Vous allez rencontrer des problèmes … non seulement d’autres les comprennent mais ils ont aussi trouvé des solutions. Vous entreprenez un voyage que d’autres ont entrepris avant vous et il n’est pas nécessaire que vous le fassiez seuls. » Le plus grand cadeau qu’une famille Angelman puisse offrir à une autre, est de briser cet affreux sentiment d’isolement …. Ce cadeau a été fait gratuitement des centaines de fois. » Audrey Angelman, 1997, Seattle Conférence
Ritratto di fanciullo con disegno Giovanni Francesco Caroto (1480-1555)
WWW.ANGELMANTODAY.COM
Audrey Angelman a contribué à la création de la première Angelman Syndrome Organisation internationale (IASO), qui a depuis été dissoute. Et en 2013, des associations de familles de nombreux pays à travers le monde ont uni leurs forces, dans un nouveau collectif informel, pour commémorer la première Journée internationale Angelman – qui aura lieu chaque année le 15 Février. September / October 2015
Nous vous recommandons la lecture d’un document rédigé par le Docteur Charles Williams de l’Université de Floride pour mieux connaître les premiers pas du SA : https://www.peds.ufl.edu/divisions/genetics/ programs/angelman_syndrome.htm Harry Angelman a visité l’Université de Floride à plusieurs reprises. Photo ci-dessous : Harry et Audrey Angelman entourés par les membres de la Division de génétique du Département de Pédiatrie Click to view this article online: http://www.syndromeangelmanfrance.org/harry-angelman-aurait-eu-100-ans/
WOULD YOU LIKE TO CONTRIBUTE ? We welcome all Angelman foundations, parents, care takers, physicians and researchers. Email your articles and pictures to Lizzie@angelmantoday.com
WWW.ANGELMANTODAY.COM
September / October 2015
From Bergamo to Rotterdam: Studying Angelman syndrome. Associazione Angelman Onlus is financing a four year research grant of 120 000euro. The Italian Associazione Angelman Onlus, based in Bergamo, is financing the grant of a doctorate student's research into the syndrome of Angelman. The funding will last four years. Monica Sonzogni, a young Italian molecular biologist will work at the Erasmus MC in Rotterdam under the supervision of Prof. Ype Elgersma. Associazione Angelman Onlus will fund 30 000 euro (120 000 euro in total) which will finance the study. WWW.ANGELMANTODAY.COM
This will be coordinated together with the Research Foundation of the Ospedale Papa Giovanni XXIII in Bergamo. The research grant is also supported by the Rotary Club of Treviglio and Pianura Bergamasca. Associazione Angelman Onlus, founded in Lombardy in 2012 , was the initiative of a family with two main objectives: bringing Angelman Syndrome to public attention as well as that of the pharmaceutical industry and helping to support the genetic research into Angelman Syndrome. September / October 2015
Angelman Syndrome Foundation Biennial Conference The 2015 ASF Biennial Conference was the most rewarding experience to date! THANK YOU to the 700+ attendees for making the 2015 ASF Biennial Conference the most rewarding experience to date! Families walked away with a plethora of resources and new knowledge, and were inspired by the research updates and discussions. Thank you to the guest speakers, expert lecturers and encouraging researchers for taking time with our families! You can purchase recordings of select sessions by clicking here for pricing and the order form. You can click here to view more photos from the Conference.
Congrats to the Award winners! Dr. Dan Harvey received the Harry and Audrey Angelman Award for Meritorious Service, recognizing his lifelong commitment to improving the lives of our loved ones with AS and bringing the AS community together as a family.
Awarded to Dr. Charlie Williams, the Claudia Benton Award for Scientific Research was created in memory of Dr. Claudia Benton (1959-1998). Dr. Benton was a pediatric geneticist, pediatric neurologist and pediatrician who dedicated her research and career to advancing treatments for individuals with AS at the Baylor College of Medicine.
www.Angelman.org
(800) 432-6435
Int’l (630) 978-4245
info@angelman.org
ASF News Briefs ‌Congratulations to Tim Bousum who was appointed Vice President of the ASF Board of Directors, and to Justin Grill who was appointed Secretary. Both will serve one-year terms in these positions. Click here for the full list of ASF Board members! ‌Did you know the ASF is an approved Combined Federal Campaign charity, enabling Federal employees to support the AS community? The CFC is a workplace-giving program for Federal employees to payroll deduct donations to eligible, deserving non-profits. This is the fourth year in a row the ASF has been approved to participate! The Campaign kicks off this fall and you can designate code #68074 for your donation to go to the ASF.
#Summit4Angelman AS father to climb Mt. Kilimanjaro to raise awareness Kyle Rooney is father to 19-month-old Madden, who was diagnosed with AS at six months old. Until that diagnosis, Kyle and his wife were just like any other family— excited young parents, eager to watch their twin sons grow and prosper. But when Madden received the diagnosis, they became ‘Angelman parents’: scared and overwhelmed at first, learning to adjust to their new reality. This is when Kyle became exceptional: Kyle will do his #Summit4Angelman by climbing Mount Kilimanjaro around New Year’s 2016 to raise awareness for Angelman syndrome.
From Kyle himself: My trek to the top of Mt. Kilimanjaro is a small tribute to my son Madden and everyone with AS. Those with AS work tirelessly every day to accomplish simple tasks that most of us surely take for granted like feeding themselves, standing and communicating. Madden lives a life harder than most, but you couldn’t tell by the smile on his face. He doesn’t waiver and he never quits. He’s my inspiration to try to climb Mt. Kilimanjaro, the ‘roof of Africa.’ If trekking up one of the tallest mountains in the world motivates someone to ask me, “Why are you doing this and what is Angelman syndrome?” then I’ve accomplished my goal. Trekking to the summit of Mt. Kilimanjaro is for AS and the accomplishments my son Madden reaches every day. Visit Kyle’s personal blog at www.summit4angelman.com to find out more about Kyle’s journey.
What is your #Summit4Angelman? Every single one of us has daily Summits we reach. No matter how big or small, these accomplishments can be inspiring, moving, and even funny. Please share your personal Summit story of accomplishment on Facebook and Twitter and include the hashtag, #Summit4Angelman. It is our hope that we will all find strength, motivation and escape from these stories of hard work, persistence and accomplishment.
How else can you help? Kyle’s goal is to raise awareness, and he wants to reach 19,341 people. That’s one new person introduced to Angelman syndrome for every foot that Mt. Kilimanjaro is tall. (Mt. Kilimanjaro is 19,341 feet tall.) With your help in introducing #Summit4Angelman to as many new people as possible, we can reach that goal! THANK YOU for your support of Kyle and his goal to broaden awareness of AS across the world!
#Summit4Angelman www.Angelman.org
(800) 432-6435
Int’l (630) 978-4245
info@angelman.org
ASF Communication Training Series Communication training you can understand and use Helping our loved ones with AS learn to better communicate can be challenging and overwhelming. That is why the ASF, in collaboration with communication expert Erin Sheldon, M. Ed., has created a FREE new communication resource.
What is it and how will it help my loved one? The ASF Communication Training Series takes all of the hours of great communication workshops and breaks them down into smaller, digestible parts so that you and your individual with AS can reach her/his greatest communication success at any age. Using web-based teaching, the Series is designed to be sequential and you can join at any time and proceed through the training at your child’s pace of learning.
How does the Series work? The Series is designed to be easy to implement for families and educators, and not overwhelm with too much information or “to do’s” all at once. Families or caregivers are provided: • Training tools about how to use picture symbols • Downloadable picture symbol display templates • Curriculum with step-by-step instructions to implement a communication program at home and school, in partnership with your child’s education team Bi-weekly webinars will provide these resources in bitesized chunks to make it as easy as possible for families to start and stick with the training for the long-term. Accompanying each webinar are concise, one-page guides to help families and educators as they build on each lesson.
Families are also encouraged to support each other and share tips via the Series’ private ASF Communication Training Series Facebook group!
Updates from the ASF ASF expands research program Researchers seeking funding for AS-related research projects can now apply for funding year-round from the ASF. Applications will be accepted on a continual basis, with submission deadlines for subsequent review occurring biannually on October 15 and April 15. One- or two-year grants will be awarded for various amounts of up to $100,000 per year. “We shifted in this direction so the Angelman Syndrome Foundation has the flexibility to continually fund innovative research aimed at finding treatments for AS,” said Dan Harvey, chairman of the ASF Scientific Advisory Committee. “Researchers no longer have to wait for specific calls for proposals. If they have a proposal that our Scientific Advisory Committee agrees is pivotal or will move research closer towards our ultimate goal of a cure, we can review it and fund it quickly in order to keep research moving forward at a faster pace.” Highest priority is given to pilot projects to test new ideas about pathogenesis and therapeutics of AS, translational research and clinical research studies. Of particular interest to the ASF are studies related to communication, behavioral issues and identification of issues and treatments that impact the daily life of people with AS and their families. Researchers from all countries are encouraged to apply.
www.Angelman.org
(800) 432-6435
Remember the Harry Angelman Art Contest! In celebration of Dr. Harry Angelman’s 100th birthday in August, the ASF launched the Harry Angelman Art Contest to honor his life and work. Dr. Angelman loved art and it was while at the Castelvecchio Museum in Verona, Italy that he saw the picture, Boy With A Puppet, which prompted him to write his original medical paper about the disorder. Use Dr. Angelman’s birthday as a way to CELEBRATE ALL PEOPLE WITH AS and create a work of art in honor of Dr. Angelman. Here’s a reminder of how it works: • Create a work of art (click here for size, theme and other parameters) and submit to the ASF. • The ASF will feature all submissions on social media, angelman.org, and in other communications. • Submissions are encouraged from ANYONE who is passionate about the AS community— including and especially our individuals themselves! • The ASF will choose the Top 10 most creative, unique, original and inspiring submissions, and feature those prominently for the AS community to then vote on their favorite. The winner will be featured on the 2016 ASF National Walk Swag Bag!
Int’l (630) 978-4245
info@angelman.org
ASF Family Resource Team The ASF created the Family Resource Team last year to assist the growing number of AS families needing support. Each member of the ASF Family Resource Team has a family member with AS, so each is personally familiar with AS and have experience in overcoming challenges faced by families and individuals with AS and in improving the quality of life for all involved. REMEMBER—these folks are here to help you, so reach out to them!
MICHELLE HARVEY IEP Issues, IEP Bank, Educational Issues, Advocacy
DR. ERIC WRIGHT Resources and Services specific to State Waivers, Government Assistance, Insurance, and Advocacy on behalf of Individuals with AS
LIZZIE SORDIA General Resources (Supplies, Durable Medical Goods, Products, Helpful Daily Living Products and Services)
Useful tips at your fingertips!
ASF Educational Webinars are FREE interactive webinars where you can learn relevant topics such as research updates, clinical developments, tips for everyday living, managing symptoms, and many more! The next ASF Educational Webinar will be an introduction to Individual Education Plans (IEPs) in September, with a followup webinar about what to do if you don’t agree with the IEP. Dates will be announced shortly and you can click here to stay up-to-date. Recordings of all previous ASF Educational Webinars are available for you to watch at your convenience. Below is a sampling of the presenters, topics and links to view the recordings; click here to view all recordings. • Lizzie Sordia presents products and services that may help everyday life with AS. Mac and tablet users - Watch on YouTube. • Dr. Stephen Calculator discusses fostering and improving communication skills in individuals with AS. Mac and tablet users - Watch on YouTube. • Erin Sheldon discusses Literacy Instruction in the Inclusive Classroom for Students with Angelman syndrome. Watch Part 1 now. Watch Part 2 now. Mac and tablet users Watch Part 1 on YouTube. Watch Part 2 on YouTube. • Dr. Eric Wright discusses Guardianship. Mac and tablet users - Watch on YouTube. • Dr. Ron Thibert and Dr. Anna Larson discuss Angelman syndrome in Adulthood. • Dr. Arthur Beaudet discusses his latest research and what it could mean for AS. Mac and tablet users - Watch on YouTube. Click here to read more about Dr.Beaudet’s ASF-funded research with ASOs. • Dr. Justin Grill discusses Emergency Issues in Individuals with AS. Mac and tablet users - Watch on YouTube.
Click here to connect with the ASF Family Resource Team members so they can help find the resources you need.
• Learn the ABC’s of the Low-Glycemic Index Treatment (LGIT) from a Mother and Expert. Mac and tablet users Watch on YouTube.
Angels in Action
By Jennifer Trinkle, Mom to Dylan Dylan is 7 years old and LOVES riding his new bike! He received it from another Angelman family at the DC walk in May. He enjoys riding into curbs and also riding up into the neighbors’ lawns. He gets a big kick out of it! Dylan also loves riding his therapy horse Lark, doing anything outside, playing in water, watching TV/movies, Curious George, Thomas the Train, Disney, and being around other people. He is very social and makes friends everywhere he goes. WWWW.ANGELMANTODAY.COM
He does not know a stranger and gives hugs and kisses to everyone. He loves his family and they all love him to pieces. Dylan will be in first grade this year and enjoys being with his teachers and classmates. He is driven to school each day, but gets super excited to see the buses in front of the school. It is hard to walk him past them to get him to class. Once you meet Dylan, you will never forget him. He has that affect on people – his laugh is infectious and his smile could light up the night sky. We are so blessed to have him in our lives. September / October 2015
Power Packed Protein Cookies GF
Dairy Free
Ingredients: -
½ cup hemp seeds ½ cup of shredded coconut ¼ cup chia seeds 3 eggs ¼ cup coconut flour ¼ cup coconut oil, melted 1 ½ tsp cinnamon ½ tsp ginger 1/8 tsp sea salt ¼ cup of organic maple syrup
WWW.ANGELMANTODAY.COM
Place on cookie sheet in the shape of the cookie that you want. They will not spread or flatten. Bake at 350 degrees for 15 minutes.
September / October 2015
La Historia del Síndrome de Angelman (Spanish Translation)
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.
Dr. Harry Angelman 1915 – 1996
Angelman
Today
“
Nobody's going to put limits on my son, only he decides what can and what cannot be… that's my philosophy.
“
-Maria Cano Moraleda Asociacion del Sindrome de angelman (Spain)
Angelman
Today
Participate in music research at Harvard University! • We study physiological responses to music in children and adults with various genetic conditions • Participants listen to songs & poems while wearing an ankle bracelet to measure heart rate & skin conductance • As a thank-‐you, we provide participants with cool toys and parents with $45 in gift cards! • We are conveniently located on Harvard’s main campus and provide free parking for the duration of the study and a $5 travel reimbursement
To find out more, send us an email at musicstudy+at@g.harvard.edu or call us at (617) 495-3503!
Dear parent, We are contacting you because we do research you might find interesting. We’re studying how people with imprinting disorders respond to and participate in musical activities, and how parents interact musically with their children. The full study description is below. Please read it carefully before making a decision about your child’s participation. If you and your child would like to participate, please email us at musicstudy+at@g.harvard.edu or call us at (617) 495-3503. We can answer any of your questions about the study and help find a convenient time for you to visit the lab. In this research, we are interested in how people with Angelman syndrome engage with and respond to music. We are writing to ask you to consider giving permission for your child to participate in this study, and whether you would like to participate as well. During the study, we will assess your child’s music perception abilities and physiological responses to music listening. Over the span of about an hour we will play a variety of recorded music examples for your child. While the music is being played, we will measure your child’s physiological responses using an ankle bracelet. This information will be collected over one video-recorded session (if your child prefers, we can split the session over two or more visits, to ensure his/her comfort during testing). Before we start testing, you and your child will be given free time to explore and become comfortable in the space. You will stay in the room with your child at all times, and are welcome to bring in any toys or games that your child enjoys. The study takes place on the main Harvard campus, in Cambridge, MA. As part of this research, we are also interested in your experiences as a parent. You will be asked to complete a brief survey (about 20 minutes), in which you’ll think back to when your child was an infant, and respond to personal questions about your parenting behaviors and your child’s responses to them, and also describe any history of participation in the arts with your child. Your responses will be kept confidential and will be used only for this research and for the purposes of institutional oversight of research activities. We will also ask about your child’s diagnosis, genetic testing, basic biometric information (e.g. height, weight, BMI), relevant psychological history and medication usage. If you don’t know the answers to those questions, you may contact your child’s doctor to help answer them, or you may leave them blank. It is your choice whether or not you and your child participate in this research. If you choose participation, you may change your mind and leave the study at any time. Declining or stopping your or your child’s participation will involve no penalties or loss of benefits to which you or your child are otherwise entitled. We hope that participating in this research will be an enjoyable experience for you and your child! As a thank-you for your participation, we’ll provide you with a toy for your child and $45 in gift cards. We also provide free parking for the duration of the study, along with $5 in compensation for local travel. There are no known risks to participating in this study.
1 of 2
We take data security very seriously. We will video record all testing sessions, and these video files will be stored in our research facility. Your and your child’s survey responses will also be stored in this way, and will also be password-protected. No one other than the researchers (listed below), our staff, and University officials responsible for research oversight will be able to access the videos and survey responses. At the end of the study, all videos and other data that contains your or your child’s name will be permanently destroyed. If you have questions about this research, please don’t hesitate to contact us at musicstudy+at@g.harvard.edu. Thank you for your consideration! We look forward to hearing from you. Best, Jennifer Kotler & Samuel Mehr Harvard University
Additional contact information: If you have questions about this research, you may also contact the researchers for this study directly: Samuel Mehr and Jennifer Kotler (sam@wjh.harvard.edu, (617) 495-3503, William James Hall 1118, 33 Kirkland St., Cambridge, MA 02138; jkotler@fas.harvard.edu, (617) 495-3503, MCZ 401-B, 26 Oxford St, Cambridge MA 02138). You may also contact the faculty member supervising this work, Max Krasnow (Department of Psychology, Harvard University; krasnow@fas.harvard.edu, (617) 495-3503, 980 William James Hall, 33 Kirkland St., Cambridge MA 02138). This research has been reviewed by the Committee on the Use of Human Subjects in Research at Harvard University. They can be reached at 617-496-2847, 1414 Massachusetts Avenue, Second Floor, Cambridge, MA 02138, or cuhs@fas.harvard.edu for any of the following reasons: • If your questions, concerns, or complaints are not being answered by the research team • If you cannot reach the research team • If you want to talk to someone besides the research team • If you have questions about your or your child’s rights as a research participant.
2 of 2
GF Dairy Free
Great after School Snack
Click on images to see video
“The movie that will change the way people think about eating” USA Today
Click here to preview
THAT SUGAR FILM is one man’s journey to discover the bitter truth about sugar. Damon Gameau embarks on a unique experiment to document the effects of a high sugar diet on a healthy body, consuming only foods that are commonly perceived as ‘healthy’. Through this entertaining and informative journey, Damon highlights some of the issues that plague the sugar industry, and where sugar lurks on supermarket shelves. THAT SUGAR FILM will forever change the way you think about ‘healthy’ food. thatsugarfilm.com
Click here to rent or buy from iTunes
Click here to preview WWW.ANGELMANTODAY.COM
September / October 2015
CONTRIBUTORS
Marilyn Kennedy Assistant Editor
Sybille Kraft Bellamy Parent Expert in Nutrition And LGIT diet
Marilyn@angelmantoday.com
Facebook.com/AngelmanSyndromeDiet
Additional Contributors: Dr. Charles Williams Anne Chateau Theresa and Chris Starks Jennifer Trinkle
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: If I Need Help – www.ifineedhelp.org Chewelry
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.
WWW.ANGELMANTODAY.COM
September / October 2015
STAY CONNECTED ON THE GO
DOWNLOAD THE NEW ISSUU APP TODAY ON GOOGLE PLAY AND NOW IN THE APP STORE!
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.
Angelman
Today
Books Recommended by Parents
Thanks for your support! Please Share Angelman Today www.angelmantoday.com
Connect with us on