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Sweet Holiday Treat – Supporting those on the Low Glycemic Index Treatment (LGIT)
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Clinical Trial Begins on a New Treatment Using Cannabis for Intractable Seizures in Children
CANNABIDIOL (CBD), the non-psychoactive compound of cannabis There is a study underway to test the safety and efficacy of Cannabidiol (CBD), the non-psychoactive compound of cannabis. Some of the experts involved are the Angelman communities’ very own specialists Dr. Elizabeth A. Thiele and Dr. Ronald Thibert of Massachusetts General Hospital. Both Physicians are members of the Scientific Advisory Committee of the Angelman Syndrome Foundation. The study will provide a better understanding of the maximally tolerated dose and potential side effects of CBD as well as display its efficacy in two well-defined childhood epilepsy syndromes, Dravet and Lennox-Gastaut, which are very difficult to control even with medication. Angelman Today will be…
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Angels in Action
Celebrating the Abilities of our Angels By Anne Chatteau (In French and English) François a 24 ans et est UPD. nous avons eu le diagnostic quand il avait 13 ans. Jusque là, il avait vécu presque comme s’il n’était pas handicapé malgré un écart de plus en plus grand avec les autres enfants. . Il a marché à 25 mois mais le langage n’est pas venu. Sinon, il était facile et s’intégrait dans les groupes sans poser de problème. C’est pourquoi, j’ai tenté beaucoup d’apprentissages avec lui, d’autant plus qu’étant professeur, je ne concevais pas que mon enfant n’ait pas droit à l’éducation. Il a eu un trotteur avant de…
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Tips for Managing Holiday Stress
By Eileen Braun, Director of Operations at the Angelman Syndrome Foundation and mother to a young lady with Angelman syndrome It’s not just about getting through and surviving the holidays, we all want to truly enjoy our time with family and friends. How do we balance all that we think we need or want to do and still enjoy the holidays? We hope these holiday tips will help to keep you a little more relaxed and less stressed this holiday season. Have a plan and set realistic expectations. Decide what is important to you and your immediate family. The “Hallmark” holiday we see on TV, in reality, most likely does…
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A Father’s View – By Peter Kraft
Greetings Angleman community and all the readers of “Angelman Today”. I would like to thank Liz Sordia for stepping out and showing leadership by creating this periodical to bring us all closer and help us find ways to meet our challenges that will maximize our Angles’ potential and the opportunity to share with you the experience of the moment I and my wife learned that Max had Angelman syndrome. I am a Dad of a 12yr old Angel named Maxent. Max has two brothers, Charle, age thirteen and Tristan, age eight. It is a day I am sure all parents and families remember like yesterday, a mark of a journey…
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WHAT IS A MAPS DOCTOR AND WHY SHOULD I HAVE ONE?
MAPS – Medical Academy of Pediatric Special Needs Interview with Dr. David Berger Wholistic Pediatrics and MAPS Physician The Medical Academy of Pediatric Special Needs is a group of professionals who offer a Comprehensive Education and Fellowship to Medical Professionals for the care of children with Autism Spectrum Disorders and related Chronic Complex Conditions. Their mission is to prepare medical professionals to deliver the best possible care to children with ASD and other special needs conditions. Under the guidance of Daniel Rossignol MD, FAAFP, this uniquely designed scientific evidence-based course of study is designed by clinicians, for clinicians. MAPS Physicians are at the forefront of helping families by thoroughly assessing…
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Dads and Dudes with Angels
By Charles De Broin, from Montreal Quebec Do we dads have it easy, you say. That romantic night turns into a nine month wait for a little miracle of life. Mom suddenly takes over and knows what to do, almost by instinct, or is it the eighteen girlfriends and her mom that make it all dizzily work. No sleep, no more calm evenings to watch the game on t.v. but all this is so much fun. They grow so fast and suddenly you realize something is wrong. Mother panics, dad comforts her to no avail. Doctors spin to find what it is that makes an otherwise healthy baby not progress as…
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Emergency Preparedness For Children With Special Needs That Follow A Therapeutic Diet
By Sybille Kraft Bellamy When Hurricane Sandy hit the East Coast in 2012 we lost electricity for 5 days and were under a curfew for a week with limited access to our regular food sources of supply. My son Max celebrated his 11 birthday with candles, a lot of candles! Candles were the main source of light in our kitchen. We used our generator for most of the day to recharge our laptop, phone, fridge, and to keep our furnace going. We had known for days that our area would be in the storm’s path. We were not particularly concerned by the flooding because we are located on a hill,…
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The History of Angelman Syndrome
Dr. Harry Angelman 1915-1996 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…
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Mosaicism in Angelman Syndrome
By Dr. Charles A. Williams, Professor of Pediatrics and Genetics, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, Gainesville, FL In the last edition, I reviewed the four genetic mechanisms that can disrupt the Angelman syndrome (AS) gene: chromosome deletion, imprinting defect, mutation in UBE3A and paternal uniparental disomy. When an individual with AS has one of these defects, it is typically present in every cell of the body, since the defect existed at the time of conception when the sperm and egg fused to form the first cell of the embryo. All of the subsequent cells are thus derived from this original cell. It is possible…