INCLUDING RESOURCES ● RESEARCH ● INSPIRATION
Angelman
Today
d i g i ta l ma g a z i ne
Families raised awareness and funds for research across the globe for IAD!
Dr. Thibert answers your questions about LGIT
Enter to Win We have another Giveaway!
EDITOR’S LETTER
I am so happy to see more and more families become aware of the effectiveness of the Low Glycemic Index Treatment for seizures. We had a great response from people wanting to know more about how it can work for their loved ones with Angelman Syndrome from our segment last month. The Angelman Syndrome Foundation hosted a free online webinar with Dr. Thibert addressing seizures and specifics on the LGIT, which is available on their site. There are many brilliant minds working in labs to create a treatment or cure for Angelman Syndrome and for that we remain hopeful. Today we must utilize what can help individuals with Angelman Syndrome. The Low Glycemic Index Treatment has been proven to reduce and even stop seizures specifically in individuals with AS. This is an excellent start to help improve the lives of our beautiful Angels. Especially when so many of the symptoms revolve around diet and GI issues including; constipation, reflux, weight problems (too much or not enough) sleep, and behaviors. As a fellow parent who has an Angel on a specified diet, I know first hand how amazing the transformation can be. No constipation, No reflux, No weight problems, great sleep, minimal behavior's and better seizure control. This is Nathans status today, it is a journey so as he grows and things may change, we will continue to monitor and make adjustments according to his individual needs. We will continue to offer great resources, recipes and success stories in Angelman Today to help and encourage everyone on this journey. At first, it may not be easy to learn a new way of eating or meal planning, but it will be worth it. Be diligent and focus on food quality, fresh is always best.
Warm Wishes, Lizzie Sordia Editor - in - Chief
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“An ounce of prevention is worth a pound of cure” –Benjamin Franklin
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Aromatherapy for Angels………..………6 Angels in Action - Sebastian , age 9….8 Zipzicle Recipe………………………....12 LGIT Chocolate Truffles.………………14 by Sybille Kraft Bellamy The History of Angelman Syndrome....19 Dr. Charles Williams Prevalence of AS……………………….17
What’s inside
Cover: Sebastian, 9 years old, AS From New York
Angelman and Associated Foundations Angel Wings Foundation………….5 Angelman Syndrome France…....18
International Angelman Day…………..20 Angelman Syndrome Mexico……24 Mompreneur Marketplace…………… .19 THERAsurf……………………..…27
Dr. Ron Thibert Answers Your Questions……….……..20 LGIT (Low Glycemic Index Treatment) Interview with Author Pam Lyman……21
Parent Recommended Books..……….23
Angelman Portugal …..................31
The Angelman Syndrome Foundation…………………….…..32 The Angelman Network – New Zealand……………………………36
Angelman Research Grant…….……..26 FAST…………………………........37 International Angelman Day……….....28 Classifieds………………………………29
Asociacion Sindrome de Angelman………………………38
To Celebrate International Angelman Day and to raise awareness, we created our first Angelman Today video featuring Angel Dad Henry Sordia.
Do You Know Angelman Syndrome? Angelman Today YouTube Channel
http://youtu.be/SMXlbeZqQS8
Trained by the most elite military and civil services; the Marine corps, Law enforcement, K-9 unit, and NASA Swat, nothing could prepare him for having a child with special needs (Angelman Syndrome)…
Enter to Win! A free copy of Pam J. Lyman’s book In The Company of Angels
Enter Here
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MARCH / APRIL 2014
Angels Week Off Winners! In January, we launched the Angel Week Off contest. We received two dozen stories ...all worthy. The Angel Week Off contest essays left everyone who read them in tears and with a greater appreciation for what it takes to be an "Angel parent." Angel parents are physically strong, emotionally tough and mentally focused ...yet they NEVER feel like it. Everyone of these essays proved that again and again. The screening process was difficult and heartbreaking. The all-star panel included the middle Tennessee representatives of Special Olympics, Best Buddies and the Make-A-Wish Foundation. Everyone on that panel wanted to give all the contestants a week off. Maybe one day, in the not-so-distant future, we'll be able to do that. But for now, there was a standout story that moved everyone of the panelists ...without exception. The story that captured the hearts of everyone is filled with drama, heartbreak, pain and redemption ...as is every Angelman story. It includes an abandoned Angel (something I know a little bit about) and two unsuspecting, "ordinary" people who were about to become extraordinary. Their week off will begin in three weeks and will start with three days and nights in San Francisco (doing or NOT doing whatever they want), followed by three amazing days in Napa Valley. They'll dine on world class cuisine, drink some of the best wine on the planet and be serenaded by the likes of Colby Calait and Sarah McLachlan. It's our honor at the Angel Wings Foundation to provide this much needed respite for these two very deserving people. We truly love our Angelman family and this is just one small way we can give back to them. We extend our unwavering support to everyone who entered an essay. You are all so deserving and we hope to send more of you on more great getaways in the future. I would personally like to thank Lizzie Sordia and the Angelman Today publication for running and managing the contest, as well as Beth Torres (Make-A-Wish Foundation), Beth Tegarden (Special Olympics), Anneliese Baron (Best Buddies) and our own Brian Ladd (Angel Wings Foundation). Your time and attention is so appreciated. So, without further adieu ...cheers, Mary and Rory! Here's to the best vacation ever! R To Read Mary and Rory's story, click the link below: http://www.regiehamm.com/blog/angel-week-off-winners/
Aromatherapy and Angels By Shari Caspert, Mom of 17 year old Matthew Sleep and Stress Management: using Essential Oils for Angels, Teachers, Caretakers and “You”! This has been quite a crazy winter! We live in Northern New Jersey, have had lots of “indoor” family time due a very harsh winter season. We have all gone from the “Holidays”, right into bad weather and Matthew has had many “snow days” off from school, how I loved those as kid!!!
Drink 2 oz of Ningxia Red Antioxidant per day, add citrus oils for extra flavor. This drink is filled with nutrients, wolfberries, yuzu and much more...Great for digestion too.
What is best for our Angels and families? Routine, fresh air, eating well, sleeping well & controlling “stress”. This helps us keep our minds, bodies and immune systems working well and helps to protect us from colds and flu. It is important to keep our spirits uplifted, and our bodies and minds balanced. This is how we support ourselves with Young Living “Essential Oils”: Morning Routine: Start our day with warm water & a few drops of Lemon Essential oil this is a natural cleanse. Matthew & Family - Thieves Essential oil on feet every morning. This “Anti viral and Anti bacterial” blend of clove, Lemon, eucalyptus, cinnamon & rosemary is highly effective in supporting the immune system and good health. Matthew’s College Brother takes thieves in capsule form, Once a skeptic, now a believer , as it has kept him healthy!
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Community Immunity: Diffuse Purification or Thieves depending on your needs. I have been diffusing a lot of Purification lately, I love the smell and it just clears the air of so many impurities, germs and un wanted odors, the blend is very uplifting as well... I often diffuse Peppermint and Lemon later in the afternoon when we all need some extra energy. Diffuse Joy - a blend Bergamont, Rosewood, Lemon Helps with emotional balance & is very “uplifting” Matthew is a “human diffuser”, a few drops of our favorites on his bandana, jacket and self, helps bus & school aides and teachers too! Day Time Routine: Avoid Germs at School or Day Program Support: Send in your own: Activities for Daily Living Kit Thieves hand Sanitizer, Foaming Soap, Desk Spray, Toothpaste, Lavender Lotion (See how in Angelman Today’s next issue) Healthy lunch and snacks Sybille Kraft has many helpful nutritional support tips in Angelman Today...such as adding coconut oil to the Ningxia Red drink MARCH / APRIL 2014
Diffuse Peace & Calming and Stress Away
Night Routine: Epsom Salt Baths with Lavender Relax muscles & mind Lavender Lotion - Relax and sensory input (Matthew sees the bottle and gives me his feet!) Diffusing Lavender before bedtime Tranquil Roll on.
We all try to stay healthy, but at times get sick, rather than going to the drugstore: Replace your medicine Cabinet: Congestion/Stuffed Nose /Allergies - RC or Breathe AgainRoll on Allergies /Itchy everything - Lavender Headaches/Nausea - Peppermint/Digize Myrtle/Lavender - so gentle and great for babies/toddlers Thieves - “Anti viral and Anti bacterial� blend of clove, Lemon, eucalyptus, cinnamon & rosemary.
Olivia, 8yrs
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Ask me how: Shari Caspert scaspert@gmail.com www.youngliving4specialneeds.com
Gabby from NY
MARCH / APRIL 2014
Angels in Action Celebrating the Abilities of our Angels By Ana Monaldi, Mom to Sebastian, age 9 expectations for Sebastian. We weren’t going to let anyone, but Sebastian himself, tell us what he would be able to do in his life.
Getting the diagnosis of Angelman Syndrome can be one of the most devastating moments for a family to go through. I still remember how confusing and terrifying it was for us. After receiving the diagnosis, we have lived through our biggest fears, our most excruciating pain, but what’s most important, we have also lived through our biggest moments of happiness.
Sebastian was born 9 years ago. He was diagnosed with Angelman Syndrome (del+) shortly before turning 3. It took us three years to find out. On one hand, we were relieved to finally know, on the other, it was hard to hear that kids with AS had such a difficult prognosis. In the midst of all our pain, we decided that we weren’t going to let the prognosis lower our
We knew that it wasn’t going to be easy, but we were determined to explore every possible option available to us in order to give Sebastian all of the tools that he needed to become who he wanted to be. Early on we decided to expose Sebastian to every learning opportunity possible, every activity, every therapy or every alternative treatment that we could have access to. Our plan of attack was to give every experience, therapy/treatment a 3 month try. After three months, we would re evaluate and either stop or continue depending on how much we felt it was helping Sebastian. In his 9 years of life, Sebastian has done an innumerable types of therapies such as: Anat Baniel Method, PROMPT Speech therapy, ABA Therapy, Brain Integration thechnique, Hypotherapy, Acquatherapy, Craneosacral Therapy, Ostheopathy, Sensory Integration Therapy, MEDEK, Patterning, Listening Program,
NDT, PEC System, AAC implementation as well as Regular OT, PT and Speech. He has also done treatments such as the Low Glycemic Index Treatment (LGIT), GFCF diet, DAN doctor protocol/supplements, Acup uncture and Homeopathy among others. Not all of the above were good enough for Sebastian to continue. I wish I could talk about each one of the treatments / therapies that have been helpful for Sebastian but for now, I will detail only the ones that have had the most significant impact on Sebastian’s life.
We started therapy with Sebastian when he was 7 month old, as soon as we realized that he wasn’t meeting most milestones. Sebastian’s progress was very slow on all areas so after a long try with doing the more traditional kind of therapies, we decided to
explore other options. We started the Anat Baniel Method/Feldenkrais Method with Sebastian when he was 18 months old. Regular physical therapy wasn’t doing much for him but a few months after starting The Anat Baniel Method, Sebastian learned to crawl and soon after (at 2.5 years old) he started walking. We noticed how Sebastian went from being an 18 month old baby that didn’t know his body in space, had no motor coordination and was terrified of moving to a kid with balance, strength and great body awareness. Knowing Sebastian’s motor difficulties then, I would have never imagined that his walking and motor skills would become as smooth and as strong as they are now.
Speech therapy was a nightmare when Sebastian first started. Sebastian was 13 months old and couldn’t care WWW.ANGELMANTODAY.COM
less about what the speech therapist had to say. At 18 months, we researched another approach that would be more meaningful for Sebastian and came across an amazing technique called PROMPT therapy. PROMPT (Prompts for Restructuring Oral Muscular Phonetic Targets) is a speech therapy technique based on giving tactile cues to the mouth (jaw, tongue and lips) and manually guiding the mouth to make a specific sound or word. The idea that through touch we could teach Sebastian's (low muscle tone) mouth and lips understand how to move, sounded perfect for him. Also, PROMPT is one of the most successful types of speech therapies used for kids with apraxia. Considering that our kids have motor apraxia, made it another good reason to try it. Initially Sebastian was very defensive. He had lots of sensory issues so he couldn’t stand having someone touching his face. It took him quite some time to be comfortable with it, but suddenly the most amazing thing happened….Sebastian said Mama for the first time! He was 23 months and since that moment, every time someone wanted to hold him he would hold up his arms to me and say MAMA!!! That was probably one of the happiest days of my life. I remember it clearly as if it
had happened yesterday. Being able to say MAMA meant much more for Sebastian than just being able to get my attention. For him, the realization that he had the ability to make a specific sound and that sound be so powerful, is what made a big difference to him. Adding more words to his repertoire was a slow, gradual process and a huge learning experience for all of us.
We all realized that we had to trust what we heard from him. Whenever we thought that we had heard a word from him, we would make sure that everyone emphasized that word through out his day. This way the word would become clearer and he would start using it more regularly. I still remember when (at around 4 years old), Sebastian had learned to produce the “K” sound. One day I briefly heard him say what sounded to me like “come” (while MARCH / APRIL 2014
looking at me). I was in shock and in disbelief, but I decided to trust what I heard. I started using the word “come” in every opportunity. I would ask him to “come” and would ask him to ask me (an everyone else) to “come” while giving him the tactile prompt (the tactile cue would help him understand how the sound was produced in his mouth). He was so reinforced by having people run over to him when hearing him said the word “come” that it quickly became one of his most used and clearest words. I always like to make sure I explain how Sebastian’s word production is so that people don’t get the wrong impression that Sebastian communicates with us by using his words. I wish that were the case, but it's not. Sebastian can currently say about 40 words, however, he only uses about 10 of those words completely spontaneously to communicate. He can spontaneously say mama, papa, hi, bye bye, come, iPad, give me, more, good and open. Those 10 words tend to be very socially rewarding words for him, so (being such a social boy) the words were very meaningful and easier to learn. He says about another 25 words, by either filling in the blank, by looking at the object, by hearing the first WWW.ANGELMANTODAY.COM
methods of communication. Sebastian started using PECS when he was about 3 years old (I wish I had started earlier). He got it right away and did very well with it until the iPads came out and we transitioned him to using Proloquo2Go on the iPad. He currently uses Proloquo all day at school and sometimes at home. He not only uses it to make requests, but is starting to use it to make comments as well. I know that Word production requires a great he can do a lot more with it. amount of processing and coordination for Sebastian so he is We still have a long way to go in incorporating his AAC more very inconsistent with it. He seamlessly into his and our doesn’t use all of his words to life. We are in the process of communicate yet, but the more learning to do better modeling that we help him, the more his and to have him feel more and words become spontaneous. He feels a great amount of pride when more comfortable with it. This people understand what he says He will be a life long learning process for him and for our was the proudest kid in the world family. when he learned to say his nickname “Seba”. Also, I think both him and I were in total shock ABA therapy has also been an amazing therapy for Sebastian. the other day when he had a brief 2 way conversation in the elevator The key with ABA therapy for us has been to find the right with our neighbor. It went like type of therapist. One that is this: fun, flexible and that can truly Neighbor: Hi Sebastian, how are adapt to Sebastian's you? personality, likes and dislikes. Sebas: Hi We have been lucky enough to Neighbor: How was school? have found not only a great Sebas: Good, good ABA based school, but also an Neighbor: Great! See you later, incredible home ABA therapist Sebastian. that has always made every Sebas: bye learning experience all about Sebastian, not about the data. We have worked really hard in helping Sebastian learn to produce ABA therapy has been a great words, but have worked equally as help in every area of Sebastian’s development. hard in helping Sebastian Thanks to ABA Sebastian has communicate with alternative sound or by a slight tactile prompt. He needs a lot more tactile help to say the other 20 words.
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learned to concentrate, to play better with toys and has learned to enjoy learning. We know that none of Sebastian’s learning would have taken place if we hadn’t started Sebastian on the LGIT Diet (Low Glycemic Index Treatment Diet). Seizure control has been the most important factor in Sebastian’s development and we are forever grateful to Dr. Ron Thibert and Heidi Pfeifer for guiding us through this process. The LGIT diet allowed us to not only control his seizures, but also, lower his medication and all of its related side effects. A few weeks after starting the diet, we noticed that he was more aware of his surroundings, was stronger cognitively and was in a better position to learn. It has been life changing for Sebastian and for our whole family. Sebastian is a great example of resilience. He works hard every day of his life and he does it with a great smile and a great sense of humor. Every day Sebastian teaches us, through his hard work and his ability to continue to fight through his challenges, that no matter what comes our way; we should never feel defeated and never give up. We are a much stronger family today than we were 6 years ago thanks to everything that we have learned from Sebastian. It hasn’t been fun a lot of the time. It hasn’t been exactly what we had expected our lives to be. But what’s important is that after all these years, we are still working hard, loving each other, and learning to laugh at the curve balls that life throws at us.
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MARCH / APRIL 2014
6 LGIT Friendly ZipZicle Freezer Pops
-1 can of coconut milk -1 tbs of mix seeds -1/4 cup of blueberries -2 drops of Stevia Organic berries flavor
Zipzicle recipe By Sybille Kraft Bellamy AngelMom and LGIT Parent Expert
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MARCH / APRIL 2014
Thank you!
A Big Thanks to all of the contributors that help bring you Angelman Today! Contributors: Dr. Ronald Thibert Sybille Kraft Bellamy Shari Caspert
All of the Angelman and Associated Foundations across the globe
Dr. Charles Williams Ana Monaldi Pam Lyman Angelman Today Supporters: Sleep Safe Beds www.sleepsafebed.com ZipZicles www.zipzicles.com Linda Roberts www.youravon.com/lindaroberts Shari Caspert www.youngliving4specialneeds.com Jocelyn Silverman
Angelman Today is a lifestyle guide to achieving better health for individuals with Angelman Syndrome and their families. It is written with your needs in mind but is not a substitute for consulting with your physician or other health care providers. The publisher and authors are not responsible for any adverse effects or consequences resulting from the use of the suggestions, products or procedures that appear on this website or online magazine. All matters regarding your health should be supervised by a licensed health care physician. Copyright 2013 Angelman Today, LLC. All rights reserved worldwide.
LGIT Black Chocolate Truffles By Sybille Kraft Bellamy
Ingredients: -4 squares of 90% black chocolate. -2 tablespoons of heavy cream. -2 tablespoons of macadamia nuts. -1 tablespoon of pumpkins seeds. -2 tablespoon of coconut oil. Blend everything together, keep in the freezer. About 0.5 gr of carbohydrates 5 gr of fats 1 gr of protein. Enjoy :)
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MARCH / APRIL 2014
The History of Angelman Syndrome Dr. Harry Angelman was an English physician who identified what is now known as Angelman Syndrome. Dr. Angelman was born in Birkenhead, England. He was an enthusiast for the language and country of Italy. He first observed three children who were unrelated but showed similar symptoms of severe intellectual delay, stiff, jerky gait, lack of speech, seizures, motor disorders and happy demeanors. Then, while vacationing in Italy, he observed an oil painting called… A Boy with a Puppet by the renaissance artist Giovanni Francesco Caroto at the Castelvecchio museum in Verona. Reminded of the children, Dr. Angelman published a paper in 1965 that described what he called “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, “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. WWW.ANGELMANTODAY.COM
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Dr. Charles Williams
delay and found varying rates of 0% (Vercesi et al., 1999), 1.3% (Aquino et al., 2002), 1.4% (Jacobsen et al., 1998), and 4.8% (Buckley et al., 1998). The Buckley paper extrapolated their data in order to compare it to the population of the state of Washington (using 1997 U.S. Census data) and obtained an estimate of 1/20,000, a number similar to that often quoted (Clayton-Smith and Pembrey, 1992).
…………………………………………..… How Common is Angelman Syndrome? …………………………………………..… The prevalence of Angelman syndrome (AS) can be estimated by using multiple sources of information such as medical practitioner records, hospital registries, laboratory test records and information from schools, public health facilities and developmental institutions. One of the earliest studies came from Denmark where children with the diagnosis of AS, determined from medical clinic records, were compared to an 8-year period having 45,000 births and showed a minimum AS prevalence of about 1/10,000 (Petersen et al., 1995). Another study of school age children, ages 6-13 years, living in Sweden showed an AS prevalence of about 1/12,000 (Steffenburg et al., 1996). Several reports address the prevalence of AS among groups of individuals with established developmental
A more recent Danish study used a relatively complete multiple ascertainment method to identify 51 individuals with genetically verified AS who were born between 1991 and 2009 (Mertz et al., 2013). During this time there were approximately 1,254,000 births in Denmark. The birth incidence was estimated to be about 1/24,500. The authors felt the rate might be as low as approximately 1/23,000, as there are some individuals with apparent AS who have negative genetic testing. Thus, it appears that about 1/12,000 to 1/24,000 children will have AS. We are learning more about the natural history of AS and much remains to be determined. In the future, it may be possible, through the newborn blood screening for example, to identify most babies born with AS. Also, the Angelman community would benefit from an analysis of all known AS deaths (accidental and non-accidental). It would also be helpful to track individuals with AS in the geriatric years. Results of these analyses will better inform us about the natural history of AS.
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References: Aquino NH, Bastos E, Fonseca LC and others. 2002. Genet Test 6(2):129-31. Buckley RH, Dinno N, Weber P. 1998. Am J Med Genet 80(4):385-90. Clayton-Smith J, Pembrey ME. 1992. J Med Genet 29(6):412-5. Jacobsen J, King BH, Leventhal BL and others. 1998. J Med Genet 35(7):534-8. Mertz LG, Christensen R, Vogel I and others. 2013. Am J Med Genet A 161(9):2197-203. Petersen MB, Brondum-Nielsen K, Hansen LK and others. 1995. Am J Med Genet 60(3):261-2. Steffenburg S, Gillberg CL, Steffenburg U and others. 1996. Pediatr Neurol 14(2):131-6. Vercesi AM, Carvalho MR, Aguiar MJ and others. 1999. J Med Genet 36(6):498.
Charles Williams, M.D. is a Professor of Pediatrics and Genetics, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida.
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JOURNÉE INTERNATIONALE SYNDROME D’ANGELMAN
On February 15, 2014 we held the second International Day of Angelman syndrome. Angelman Syndrome our association France organized on this occasion a census you will find the results as attachments, as well as elements of information to help you better know this syndrome. Angelman syndrome France is an association of parents, created in 2013, which aims to be a resource center and information for families of children and adult carriers of Angelman syndrome.
Syndrome Angelman France (SA-F) est une association créée en 2013 qui a pour objectif d’être un centre de ressources pour les familles d’enfants et d’adultes Angelman en proposant des échanges et une mutualisation d’expériences: aider à mieux prendre en charge les Angelmans aussi bien à domicile qu’en établissement et obtenir une meilleure prise en compte de leur handicap dans la société.
Préparé par Anne Chateau Plus d’i...nformations sur le site magazine www.syndromeangelman-france.org
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MARCH / APRIL 2014
10% of your order donated to the Angelman Syndrome Foundation AVON – IT LOOKS GOOD ON YOU DISCOVER THE AVON DIFFERENCE
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Dr. Ron Thibert
Q Will the diet effect my child's weight? My child is over weight. My child is under weight.
A This is one of the reasons we always
…………………………………………..… Answers Your Questions about LGIT? …………………………………………..…
Q We have one question for Dr. Thibert. our daughter started the diet in October 2012 and after about 5 weeks she was seizures free. 3 months later her neurologist decided to lower her medication but because of this her absences came back. When is the best time to start lowering the meds? She is in ketosis and we are really careful that she gets the good ratio.
start the diet under the supervision of a dietitian as well as a doctor. The idea is to have children at an optimal weight so for kids who are overweight the diet will be designed to lose weight and for kids who are underweight the diet will be designed to help gain weight. Height and weight should be checked at least every 3 months to be sure kids are growing adequately and maintaining a good weight for their age and height.
Q Can my child start the diet if they are on multiple medications?
A Yes, in fact many people who start the diet are on multiple medications which have not worked well. One of the goals of dietary therapy is to minimize the amount of medications needed.
A That is a great question. There is no clear
Ronald L. Thibert, DO, MsPH is the CoDirector of the Angelman Syndrome Clinic. A Pediatic Epileptologist with a interest in the treatment of epilepsy in children with autistic spectrum disorders at Boston Massachusetts General Hospital
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answer but we usually wait 6-12 months before coming off medication after the diet begins – similar to what we would do if we added a new medication that appeared to be working well. If there are clear side effects from the medication then you could consider coming off sooner but 6-12 months would be a good time frame to try weaning medications under the supervision of your doctor.
More questions for Dr. Thibert? Email Lizzie@angelmantoday.com
MARCH / APRIL 2014
In The Company of Angels Written by Pamela J. Lyman
“I was inspired to write 'In The Company of Angels A Compilation of Stories and Poems on Angleman Syndrome, By Those Who Know it Best' very shortly after our son Conrad was diagnosed at 15 months.” – Pam Lyman
After the diagnosis I hopped on the internet and started searching for information about this diagnosis that had just rocked our world. What I found was minuscule and very scientific and impersonal. I wanted the human story, I needed to be connected with other parents, family members going through what I was going through. I needed to know that I would eventually come out of the dark hole I was in and know that there was some light in the distance.
As I was discussing the lack of information with my mother in law, she asked me if I had considered writing the book I was looking for. I laughed. A lot. And then I started thinking about it, what would I want the book to look like, what would the feel of it be? I talked to my mom about it who also encouraged me to write it. She said, 'If you don't write it, who will?" So I got to work. I contacted the only two organizations I knew of at the time, CASS (Canadian Angelman Syndrome Society) and the ASF (Angelman Syndrome Foundation) and WWW.ANGELMANTODAY.COM
asked if they would support me in my project. They both responded with an overwhelming YES! I submitted a letter in each of their online newsletters, outlining my project asking for essays or poems about the raising, loving, struggles and caring of someone with AS. The response was incredible and very humbling. I started getting emails and letters within a few weeks of my letter being posted in their newsletter. What was even more incredible was how those two letters made their way around the world to our global AS community. I was truly humbled and so very excited, as this was clearly a book that was not only needed by me, but by others. People wanted to tell their stores and to help those families with loved ones just getting diagnosed. I can't tell you how much I was buoyed up by all the words of wisdom, love, grief, pain and joy that were shared with me, a stranger. What I have learned is that when you have a child with AS you are instantly a member of a huge family. A family that loves to
communicate and share in everything going on with their loved one. The successes, diets, potty training, sleeping, seizure advice, education, pj's anything you need help with you can put it out there and you will get no less than 10+ responses! It is an incredible community. I have also learned to never underestimate someone with AS. Ever. They will surprise you at every turn. I was fortunate to be blessed with twins after Conrad. Conrad was obsessed with them. He loved to watch them and try as best he could to care for them. He watched them very carefully meet milestones that he hadn't reached. He learned how to walk and drink from a sippy cup just from watching them. I would watch him intently as he intensely watched them take their first steps. I could see him thinking, "I can do that, I will do that!" I would watch as he would try to do what they were doing and then do it! He has always been very determined to do what he wants and has always been very successful. MARCH / APRIL 2014
Advice to others. Find a support group and take comfort with them. Whether it be other families raising kids with different needs or AS or family and friends. Surround yourself with people who love you and who want to help you. People that you can trust to care for your child if you need a break. Find a great pediatrician and pediatric neurologist who you can talk to and who will listen to you. Physical and Occupational Therapy is amazing when our kids are little to help them learn how to use their bodies. It is also helpful to us as the parent to know how to help them at home. I took Conrad to physical therapy and occupational therapy once a week after his diagnosis. He also did hippo therapy which he HATED! Early Intervention is also a great resource as soon as your child is old enough. With all the help that is out there for communication now, figure out what you want to do and start early! We are just now getting Conrad into PODD and he is nearly 12.
I wish that we had PODD earlier than now. But I know he can do it. Take breaks. Get someone to help with the care of your child. You will get exhausted from the constant physical and mental strain of caring for your child. You deserve (and you will need) some time to relax and recharge your batteries. If you have other children, take time to do things with them that are more difficult or nearly impossible to do with your Angel. My husband and I do this with our other three boys and it helps them to be the star. As much as they love Conrad and are supportive of him it is nice for them to be the stars. It is helpful for them to not have to wait, or be told we can't do such and such because of Connie. It is hard to leave him behind to do those things but trust me it is worth it and helps your children to know that they are also 'special'.
Our Story This is Luke! Our inspiration for Zipzicle速 Zip-Top IcePop pouches. In 2009, Luke began to have challenging health issues. Working with his pediatrician, things greatly improved when we eliminated food that contained strong food dyes. We also discovered we were not alone and buying commercially available ice-pops was no longer an option. Using traditional hard molds and sticks we began making ice-pops at home. One day while in the car Luke said, "too bad we can't bring them with us." Well that was all it took. It was our "aha!" moment. The idea for Zipzicle速 pouches was born!
www.zipzicles.com WWW.ANGELMANTODAY.COM
MARCH / APRIL 2014
Books Recommended by Parents
Con motivo del Día 15 de Febrero, Día Internacional del Síndrome de Angelman, se nos ocurrió hacer la Primera Reunión con Familias Angelman Mexicanas que hemos conocido a través de las Redes sociales y a su vez convocar y buscar nuevos angelitos en toda la República Mexicana, todo esto para tratar de difundir este Síndrome tan poco conocido por acá. Cuando iniciamos solo teníamos conocimiento de 9 familias. Empezamos a difundir y poco a poco aparecieron nuevas familias, por cuestión de distancias se complicaba mucho reunirnos, por lo que decidimos juntarnos solo las familias que estábamos en el centro del País. Ahora ya somos 14 pequeños Angelman en todo México, pero creemos que todavía debe haber más y seguimos haciendo labor para tratar de difundir un poco más este Síndrome, ya que encontrarse con otra persona es muy difícil por su incidencia de 1 a 30 000 casos. A nosotros como papás nos ayuda a no sentirnos
To mark the Day February 15, the International Day of Angelman syndrome, we decided to make the first meeting with Mexican families affected by Angelman Syndrome. We have met through social networks and we continue to call and find new angels throughout Mexico, as we try to spread awareness because so little is known here. When we started we only had knowledge of 9 families. We started slowly, new families were spread all over the country, so we decided to get the families together in the center of the country.
Now, we are already 14 Angelman families throughout Mexico, but we believe that there must still be more and we continue to work to try to spread a little more about this syndrome, as finding another person is very difficult because their incidence of 1 to 30 000. For us as parents it helps us to not feel so alone as you exchange experiences and therapies. It's good to share because they are small and of different ages. Through the group page and Angelman Syndrome
tan solos, ya que intercambias experiencias, terapias que hacen cada uno. Es bueno poder compartir pues son pequeños de diferentes edades. A través de la página y el grupo de Síndrome de Angelman México los vamos a ir conociendo poco a poco. Muchas gracias a las Familias de Diego, Vale, Emilia, Omar y Daniel por dejarnos compartir un poco de nuestras vidas.Dinorah Toledo Ocampo y Antonio Gaytán Téllez. (Papás de Daniel)
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Mexico, we are going to find more families gradually. Thank you very much for Family Diego, Vale, Emilia, Omar and Daniel for letting us share a little of our lives. Dinorah Toledo Ocampo and Antonio Téllez Gaytan. (Parents of Daniel) Syndrome de Angelman Mexico https://www.facebook.com/sindromengelmanmex
MARCH / APRIL 2014
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MARCH / APRIL 2014
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MARCH / APRIL 2014
ANGELMAN SYNDROME INTERNATIONAL DAY FEB 15
A SMILE FOR A SMILE
ANGELMAN SYNDROME IS A RARE GENETIC DISORDER THAT RESULTS IN DEVELOPMENTAL DISABILITIES AND NEUROLOGICAL PROBLEMS, EQUALLY AFFECTING BOYS AND GIRLS.
In the entire world, 18 people are born everyday with Angelman Syndrome. In Portugal, there are 60 reported cases, although a more realistic number of as much as 500 cases is estimated. Typically, these children do not talk and they may never come to walk. Yet, there is a distinctive trait to this syndrome: the constant smile and a particular craving for hugs and physical contact on the part of these children. For that reason, they are often referred to as Angels. Despite no cure being available, Angelman Syndrome can be managed through psychomotor development therapies. As a rare condition, the exchange of information and sharing of experiences amongst parents and therapists is crucial for a more constructive every day life. This is the sort of assistance that ANGEL provides for these children's families.
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It’s time to Walk! The 2014 National Walk is open for registration! 29 cities are participating and you can see the complete list and register by visiting Angelman.org/Walk. Following are profiles of a few select Walk sites. We look forward to seeing you this year!
Here’s a look at a few of this year’s Walk sites Boston
Hosted 300 Walkers, Raised $54,000 in 2013 Peter SanGiovanni, Walk Coordinator In its 5th year, the Boston Walk site has been spearheaded by the SanGiovanni family since its inception, who along with Board members and other AS families in the area have rallied the greater Boston community to generate incredible support for individuals with AS. 21-year-old Isabella SanGiovanni is diagnosed with AS, and her brother, Alex, has taken his passion for volleyball a step further and used his sportsmanship to host additional fundraisers supporting the ASF throughout the year.
Chicago
Hosted 600 Walkers, Raised $102,000 in 2013 John Geraghty, Linda Yoakam, Barb and Al Kelkhoff, Walk Coordinators The National Walk was established in Chicago in 1999 as the first and original Walk. Through the dedication of volunteers, that first Walk was very successful and became an annual event, which then expanded to additional cities around the country. The Chicago Walk is championed by long-time ASF volunteers John Geraghty, whose 12-year-old daughter, Grace is diagnosed with AS; Linda Yoakam, whose 27-year-old son, Billy, is diagnosed with AS; and Barb and Al Kelkhoff.
Indianapolis New Walk Site! Kathy Rokita, Walk Coordinator
New for 2014, the Indianapolis Walk site is spearheaded by ASF Board member Kathy Rokita and her husband, Congressman Todd Rokita. Their 5-year-old son, Teddy, is diagnosed with AS. The Rokita’s have been heavily involved in supporting the ASF over the years since their son’s diagnosis, and are working hard to increase awareness and support for AS in their hometown of Indianapolis. Todd Rokita has also used his influence as a Congressman to advance awareness and understanding of AS at the federal and state levels as well.
Long Island
Hosted 300 Walkers, Raised $72,000 in 2013 Iris Faver, Walk Coordinator Iris Faver and her husband Scott have been Walk coordinators for Long Island for two years, and have been very active in promoting awareness of AS on Long Island by conducting a number of interviews with local media outlets featuring their 8-year-old daughter, Ally, who is diagnosed with AS. The Long Island Walk is hosted in Eisenhower Park, a vast public park in the heart of East Meadow, NY—a short hop from New York City and transportation hubs.
www.Angelman.org
(800) 432-6435
Int’l (630) 978-4245
info@angelman.org
Orlando
Hosted 200 Walkers, Raised $20,000 in 2013 Lizzie Sordia, Walk Coordinator Lizzie Sordia, whom the AS community knows as the driver behind the creation and launch of Angelman Today, has also been a long-time ASF supporter and Orlando Walk site coordinator for the past three years. As the only Walk site in the populous state of Florida, the Orlando Walk site attracts families with individuals with AS from all across the state and southern region. This is the 4th Walk for Orlando, where it will be held in the beautiful, picturesque city of Celebration, just outside Orlando proper and in the heart of the Disney World complex.
Phoenix
Hosted 400 Walkers, Raised $27,000 in 2013 Amy West, Walk Coordinator The Phoenix Walk site relaunched in 2013 after a brief hiatus, and returned with immense support for individuals with AS from the greater Phoenix community. Walk Coordinator Amy West, whose 6-year-old daughter, Grace, is diagnosed with AS, has broadened support for the Walk through her connections with a number of local businesses. The 2014 Walk will feature performances from local dance troupes, making it the most exciting Phoenix Walk yet!
Save the Date for the 2014 ASF National Walk on Saturday, May 17th*. We look forward to seeing you! *The Houston, TX Walk will be held Sunday, May 18th.
Angelman.org/Walk
Boston Walk, 2013
Houston Walk, 2013
Long Island Walk, 2013
Mark Your Calendars! Don’t miss these upcoming events that directly support individuals with Angelman syndrome
ASF Educational Webinar Series The ASF Educational Webinar Series provides you with the most up-to-date information about living with AS. The ASF invites experts to speak about topics that help families and caretakers improve quality of life for individuals with AS, addressing topics such as research updates, clinical developments, tips for everyday living and managing symptoms, and many more. The webinars also allow you to ask questions and interact with these experts. Upcoming speakers and topics include: February 20: Ron Thibert, Focus on Seizures and LGIT March 21: Sybille Kraft-Bellamy, Implementing LGIT into Your Daily Life Future webinar dates and speakers will be announced shortly.
Check the ASF website for updates!
Rockville Centre St. Patrick’s Parade, Long Island, NY The ASF is incredibly honored to have been chosen as one of three charities to benefit from the 2014 Rockville Centre St. Patrick’s Parade! The Parade raises funds at various events throughout the year that are donated to three charities, including the ASF. The more who participate in these events, the more money will come back to the AS community! March 22 is Parade Day, and all are welcome to march in the parade. Contact the ASF for more details about participating.
www.Angelman.org
(800) 432-6435
Int’l (630) 978-4245
info@angelman.org
For the third consecutive year Friendship Circle is holding the Great Bike Giveaway, a national contest giving away adaptive bikes to children with special needs. We are partnering with bike companies from around the U.S. to provide some of the best adaptive bikes to the children and young adults who need them most.
Otorcross
www.angelmannetwork.com
ENDURO-CHALLENGE 2014 The Angelman Network’s FOR THE ANGELS fundraising team (Alex and Chris) celebrated International Angelman Day in style! The team aimed to ‘cover the distance’ from Auckland to the start of the Gold Rush — the big event in March they are training for. That’s 1512kms in ONE day! Families, friends and the general public came along to support the team. A nominal fee was paid to participate and there was a draw for some pretty cool prizes. The event was a great fundraiser and also raised awareness for AS. An info table, a sausage sizzle, a snack table and a picnic site were available. It was a positive and productive celebration for all who attended. ~Ursula Cranmer
The Amazing 2014 International Angelman Day Awareness Campaign by Paula Evans Chairperson, FAST
We tweeted, we posted, we gathered with family and friends and we called in some heavy hitters, all to help us raise awareness of Angelman Syndrome in the most unique and fun campaign to date for International Angelman Day 2014. It began with a simple message, Ainsley is my reason #cureangelman, and quickly spread like wildfire throughout Facebook. Newsfeeds were flooded with pictures of our beautiful children and messages of hope and inspiration. The Angelman community took a crash course in tweeting and wasted no time in flooding Twitter with tweets about Angelman Syndrome and our cause. Foundation for Angelman Syndrome Therapeutics (FAST) spokespersons Colin Farrell, Jai Courtney and Retta created personal, heartfelt video messages to share with the world. They were quickly joined by Josh Peck, Wilmer Valderrama, Shenae Grimes, Josh Beech, Melissa Peregrym and the NBA Washington Wizards who all wanted to help us reach as many people as possible with our awareness campaign. Enrique Inglesias took time out during a concert performance to re-tweet out a message from FAST to his millions of followers. People.com, Just Jared and Wonderwall were just some of the online websites to cover our story. In other words, it was huge!! It is impossible to tell just how many people we were able to reach but we know it was at least 4,950,382 on Twitter, 83,230 on Facebook and 22,463 via YouTube – absolutely amazing!! After the community worked their fingers off on this very successful social media campaign, we all went out to dinner at Ruby Tuesday restaurants to celebrate and raise money. The Ruby Tuesday Give Back program raised over $9,500.00 for FAST. Online donations stand at $31,797.96 and counting. Other community events such as Skate for a Cure, Hoops for Hope, Spaghetti Lunches and other community and restaurant fundraisers should bring our total to at least $65,000.00 – enough to fund much needed research. To view celebrity videos, please visit our website at www.CureAngelman.org. FAST cannot possibly thank everyone who participated in International Angelman Day 2014 and made it more successful than we could have ever imagined. Well done Angelman community, well done!!
activated in our brains. If there is for some reason a problem in this region of the chromosome 15 where UBE3A is located, and this copy of UBE3A is not activated, our brain would lack the ubiquitin ligase activity of UBE3A. While UBE3A is just one out of over 500 ligases humans have, the lack of its activity results in AS. Most ubiquitin ligases are capable of attaching ubiquitin to more than one substrate or client proteins. A significant amount of research is ongoing to map which substrates do each ubiquitin ligase target, but in most cases we do not yet know them. This is still the case for the substrates of UBE3A, despite some results exist pointing to likely substrates.
PhD Ugo Mayor in his laboratory at CIC BioGUNE
<<The role of UBE3A in flies is the same as in humans>> The Angelman Syndrome Association (ASA) Spain organised a seminar last September, where Ph D Ugo Mayor explained the line of research that is being conducted in his laboratory on Angelman Syndrome. He has recently released his discoveries to the scientific community and it is for that reason that ASA aimed to interview him in order to find out all about his discoveries and progress. ____________________
regulation of the brain. At the time, most labs working in the ubiquitin field were focused on developing strategies that work mainly in vitro, but which can not be used to describe the ubiquitination events that happen in vivo in a living organism. We did succeed to develop a novel strategy –which we applied first to fruit flies- that can be used to characterize ubiquitination in vivo. After considering a number of relevant pathways we could aim to characterize with our technique, I realized that research on AS should be our priority, as it represents a paradigm of the importance of ubiquitination in neuronal development and function.
Why did you decide to start research on Angelman Syndrome? I have been doing research in the functions of ubiquitin since 2004, with a special interest on the
We know that AS is an alteration of chromosome 15. What is actually its cause? From the two copies of the gene for the ubiquitin ligase UBE3A we all have in our cells, only one is usually
What is ubiquitin and what function does this protein have? Ubiquitin is a rather small protein that is used in a “post-it” sort of way to regulate at the required time and location most other proteins within cells. A protein tagged with several ubiquitin molecules can for example be targeted for degradation, but depending on how the “post-it” ubiquitin is attached, it might instead be directed to interact with a third protein, or sent to a different location within the cell. The ubiquitin code is still not fully understood, but we know now much more than 30 years ago, when research on ubiquitin just revealed the importance of this small protein. Such work was recognized by a Nobel Prize 10 years ago. We have recently read you just published some advances in your research. What have you found? Using a model system we have identified and validated some UBE3A substrates that could explain a number of observations reported before for Angelman Syndrome. The UBE3A gene is not only present in humans, but also for example in fruit flies, a simple organism used for research because of its versatility. The role of UBE3A in flies is exactly the same as in humans, and flies lacking it also display a failure of neuronal functions that
Who is Dr. Ugo Mayor? Born in San Sebastian (Basque Country, Spain), Ugo Mayor finished his studies in Lund Universitet (Sweden), and then went to the University of Cambridge (UK), to work on ultra-fast folding proteins under the supervision of Prof. Sir Alan R. Fersht. His PhD thesis resulted in several landmark papers. In 2004, Dr Mayor was granted a Dorothy Hodgkin Fellowship from the Royal Society (UK). Moving into the lab of Prof. Andrea H. Brand at the Gurdon Institute involved a significant change in disciplines, aimed at bridging the gap between protein biophysics and developmental neurobiology. Using a novel approach to isolate ubiquitinated proteins, Dr Mayor was able to describe the ubiquitin landscape in the embryonic brain during development. He received in 2012 a Basil O´Connor Starter Scholar Research Award from the March of Dimes, and focused his efforts in identifying the substrates of the UBE3A ubiquitin ligase, whose failure causes Angelman Syndrome. Dr Mayor is based at the CIC bioGUNE research centre (near Bilbao, Spain) with an Ikerbasque Researcher position. mirrors –within their own scale of capabilities- the syndrome that develops in humans. What do these developments imply for AS research? While so far our results are only based on one model system, and therefore will need to be validated in higher organisms, as well as in human samples, we have observed that UBE3A regulates the proteasome. This confers a higher level of complexity to the molecular network controlled by UBE3A, as the proteasome is a central regulator of protein degradation. However, our results might actually offer an explanation to the regulation of other proteins that had been described as UBE3A substrates before, but which were actually never confirmed to be ubiquitinated by UBE3A. And now what? What is the next step you are planning for your research? Once we have confirmed that our strategy can be used in flies, we are now expanding our research into mice, a model organism much closer to us, and which will hopefully help us understand better how AS develops. Additionally, and in collaboration with Dr Reiter in Memphis, we are aiming to validate our results in dental pulp derived neurons from patients.
Where do you obtain funding for your research? When I arrived to the CIC bioGUNE, a research centre near Bilbao (northern Spain), I was given some generous support by the centre to set up the lab. Later I obtained a March of Dimes grant that has funded our research on AS during the last 2 years. This year, we have been fortunate to receive a direct economic contribution by the Spanish “Asociación Sindrome de Angelman” to support our research for the year 2014. This has been an essential support at a time we are waiting for the resolution of a grant application to the Spanish main source of support for research.
Last, a question we all ask ourselves. Will we ever see a cure for AS? That is the trickiest of all the questions so far. Obviously, I would like to say “Yes, no doubt”. But, at the same time, I think it is essential that we do not create false expectations. In contrast to not so long ago, we now understand what gives rise to AS. However, we don’t know yet what goes wrong at the molecular level as a consequence. Depending on what exactly is happening, it might be more or less likely that finding a therapy for AS compensating for the neurological manifestations might be achieved within a reasonable time. Science is advancing fast, so the chances to find a cure for AS are obviously increasing every day. And surely research on AS will continue until a cure is found. Until then, life has to continue, and making the best of the given circumstances is probably the best present a child with AS will receive. _______________ More information: http://personal.cicbiogune.es/uma yor/Lab/Research.html
Angelman Syndrome Association provides financial support to PhD Ugo Mayor in his research. ASA allocated 35,000€ to PhD Ugo Mayor’s research for 2014-2015. The effort and engagement of the association members who committed themselves to organising events to collect money and helping to rise people’s awareness of the need to research, made it possible for this amount to having been raised.
PhD Ugo Mayor talking to María Cano, Association treasurer
Nevertheless, we hope this amount will grow as the year goes on thanks to the association members’ work. We would like to convey our most sincere gratitude to the association members for their work and great effort.
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