AS Foundations
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Introducing The Kourkouta Family And The Angelman Greece Organization
By Clairy Kourkouta “Whenever I thought of myself as a mother, it never crossed my mind that I could have a child with special needs.” I always admired the families of special needs children so much and in fact I was saying that for people with special needs it’s really difficult to live in Greece, since common things such as government allowances, extra benefits, schools etc are things that someone has to look for by him/herself. A year ago and after a series of specialized tests, we found out that our sweet little girl, Olia has Angelman Syndrome, del +. By the time we got the results, we were sure…
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Angelman House – Quebec, Canada
By Charles de Broin Société du syndrome d’Angelman The idea of offering a respite home for Angelman children was first conceived by Paolo Di Vito, Sophie Dubé and a handful of parents and friends who were willing to dedicate time and energy to the cause. The idea was to offer a safe and welcome home away from home to children with Angelman Syndrome. The Foundation du Syndrome d’Angelman ( angelman.ca ) obtained its letters patent in May of 2005 creating a non profit corporation for people touched by Angelman Syndrome, to promote research on the syndrome, to offer a stimulating environment for individuals afflicted with the syndrome and provide support to those nearest to…
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Family day at the zoo – Angelman Syndrome Belgium
Family Day at the Zoo in Antwerp By Inge, (Mum to Merle) We were hesitating to go or not to go to the Zoo, an activity organized in September this past year by the Angelman Syndrome of Belgium. From Poperinge, our hometown, it is a travel of about 2h 40 min by train which is quite a long time for Merle, our Angelman child. She can be quite unpredictable. Anyway, we decided to go for the adventure. ☺ Finally, we arrived somewhat later than the other families. In the morning we explored the park and during our walk through the park we met several other families with an Angelman child.…
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Angelman Research – Baylor College of Medicine Research Discovers Potential Therapeutic for Angelman Syndrome
Baylor College of Medicine Research Discovers Potential Therapeutic for Angelman Syndrome ASF-funded research, published in Nature, proves paternal Ube3a can be activated and AS symptoms can be recovered. Dr. Art Beaudet Promising Angelman syndrome research continues to move closer toward potential clinical trials, as announced in December in a paper in Nature by Dr. Art Beaudet and his research team at Baylor College of Medicine (BCM). More research will be conducted but pre-clinical trials in AS mice have proven that the paternal copy of Ube3a can be activated and that AS symptoms can be recovered, though more testing is needed to determine exactly how the cognitive deficits associated with AS…
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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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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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Government Benefits and Angelman Syndrome
By Eric W. Wright, Ed. D. Families often struggle to find the appropriate resources when it comes to meeting the needs of individuals with Angelman Syndrome. I remember nearly six years ago when my wife and I were contemplating selling our house because we were so confused on how we were going to care for our daughter and address our daughters needs related to mobility. Part of me was worried about how we would pay for medication, therapy, diet, and preschool. When the dust of the new diagnoses settled, we started on our path to find resources. This would be a piece of cake, considering my work as a Family…
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The Secret of Mael: Cartoon about the difference
Le secret de Maël : dessin animé sur la différence The secret of Mael: cartoon about the difference Click to view The Secret of Mael: Cartoon about the difference http://youtu.be/d2sECQDAZG4
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Special Tips for Traveling Families
By Eileen Braun, Executive Director of the Angelman Syndrome Foundation and mother to a young lady with Angelman syndrome. (taken from the previous article in Tips for Managing Holiday Stress, this needed to be its own article because it applies to more than just the holidays) Medications and Medical Records Gather your child’s medications and a copy of his or her medical records. Make sure you have enough refills for the length of the trip and a few days extra in case of inclement weather. TSA Cares blog – What to expect with flying with meds. You can also download the TSA Notification card. Medical Equipment If you are traveling with medical…
