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Siblings Love and Support 2015
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Editor’s Letter November-December 2014
“It is that wonderful time of year again.. I can’t believe it. Time really flies when you are having fun. We love the holiday season. We love decorating the house together, the holiday music (Frank Sinatra Holiday songs are a family favorite), traditional holiday meals, and sweet treats. I spend more time in the kitchen this time of year, but I enjoy it. I am grateful for this past year, it has been full of challenges and achievements. This year Nathan has started to not only use an iPad, but also understand and use an app called Touch Chat for (AAC) communication. He loves his iPad! His favorite apps are…
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LGIT – Crackers
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LGIT Almond Mousse
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Casa Angelman – New Art Gallery
http://www.casaangelman.org http://www.facebook.com/elplacarddelosangeles
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Angelman Research Update – Professor David Segal 2014
Professor David Segal heads a research laboratory at The Genome Center of the University of California Davis. A main focus of the Segal Lab is designing proteins that can bind to DNA and “turn on” or “turn off” the expression of specific genes. Such DNA binding proteins have the potential to be used in applications such as targeted gene expression therapy for conditions with a known genetic basis. For example this approach might allow people with Angelman Syndrome to make up for the loss or inactivation of the UBE3A gene on the chromosome inherited from the mother, by “turning on” or expressing the UBE3A gene inherited from the father. Professor Segal…
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Angels in Action – Sydney
Celebrating the Abilities of our Angels By Suki Sandhu, Mom to Sydney age 19 We did not receive an official diagnosis for Sydney until she was 15 years old. I always knew there was something more than just being developmentally delayed. Physician after Physician did not know. The diagnosis was not going to change anything about Sydney, it was for me. It helped me understand and was therapeutic for my 15 years of unanswered questions. To do my part and help raise awareness, I had the opportunity to speak with the medical staff of Great Ormond Street Hospital and reminded them that the diagnosis is as important for the parents. Sydney…
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What the gala experience means for us
By Karen Hill So my countdown to the 2014 gala is officially underway. Tickets? Check. Hotel? Check. Dress? Well, that usually happens a week before when I have determined I have no more time to lose weight before shopping. I am fortunate that this year will be my third year attending the gala, and it is just under three years since my son Logan (5 del+) was diagnosed. Last year I was lucky enough to win a spot in the much-anticipated Colin Farrell meet and greet. As I stood in line anxiously for Paula to introduce us, waiting and watching the other families, I whispered to my husband, “that’s so…
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Dr. Ron Thibert Answers Your Questions
Ron Thibert, DO Director, Angelman Syndrome Clinic Director, Dup15q Center Ronald Thibert, DO, MsPH is a Pediatric Epileptologist with a interest in the treatment of epilepsy in children with autistic spectrum disorders. He is the director of the Angelman Syndrome Clinic and the Dup15q Center for MGHfC and the Lurie Center. Q: The diet seems so complicated prior to getting the hang of it – so where do we begin? Thibert: The diet is complicated and can be difficult but the important thing is to not get discouraged – it can take as long as 3-6 months to really start working. Dietary therapy should always be done under the supervision…
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The Fourth International Symposium For Diet Therapies
Matthew’s Friend’s Symposium – Liverpool UK 2014 By Sybille Kraft Bellamy A couple of weeks ago I had the opportunity to attend one of my favorite scientific symposiums: The 4th Global Symposium Ketogenic Dietary therapies for Epilepsy and other Neurological disorders. Over 27 countries were present sending the most eminent neurologists, researchers scientists in epilepsy, cancer, molecular biology and nutrition. They presented their clinical trials and laboratory results in the field of the Ketogenic diet. Angelman syndrome was represented by Dr. Elizabeth Thiele the neurologist from Mass General hospital in Boston who received the John Freeman award from Nancy Abraham (Co-founder of The Charlie Foundation) for her outstanding work in the…
