ASF - Angelman Syndrome Foundation
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The Angelman Syndrome Foundation Has A New CEO, Amanda Moore.
I recently had the opportunity to chat with Amanda Moore, the new CEO of the Angelman Syndrome Foundation right before one of the biggest events of the year, the biannual ASF Family Conference! Amanda is no stranger to Angelman Syndrome. She is a Mom to twin boys, Jackson and Baden. Jackson has Angelman Syndrome. We have all been through that devastating day of getting the diagnosis. It is heartbreaking to receive information about this severe genetic condition that will require the life long care of our sweet Angels. We mourn the loss of all of the ideas we imagined their life would lead. Instead, we are forced into a whole…
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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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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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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…
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Dr. Ronald Thibert Answers Your Questions
Dr. Ronald Thibert 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. A That is a great question. There is no clear 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…
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90% Improvement in Seizure Reduction
My interview with Dr. Ron Thibert from my blog in December 2012. I recently had the opportunity to catch up with the Angelman community’s very own trusted neurologist Dr. Ron Thibert! He is the Co-Director of the Angelman Syndrome Clinic at MassGeneral Hospital for Children in Boston. His specialties include Neurology and Epilepsy Service. Many families in our community travel from many other states just to see him. He really understands how to provide the best treatment for our kids! Angelman Syndrome is so rare and when it comes to their brain and seizures, our kids need the best! They need someone who has experience to draw from when deciding the…
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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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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…
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Clinical Trial of LGIT Proves Effective for Reducing Seizures by 80-90%
Clinical Trial of Low Glycemic Index Treatment proves effective for reducing seizures by 80 – 90% Dr. Thibert and Dr. Elizabeth Thiele (both are members of the Scientific Advisory board for the Angelman Syndrome Foundation) were able to launch a clinical study to determine the efficacy of the Low Glycemic Index Treatment in reducing seizures in individuals with Angelman Syndrome. In July 2012 the results were in and published in Epilepsia and in the Angelman Syndrome Foundation newsletter. Epilepsia link: PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22779920 Read my interview with Dr. Thibert on my blog www.MeetTheFamiliesofAS.blogspot.com
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Understanding Genetic Classes of Angelman Syndrome – By Dr. Charles Williams
Understanding Genetic Classes of Angelman Syndrome Dr. Charles Williams, Professor of Pediatrics and Genetics, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida Conducting blood testing to diagnose Angelman syndrome (AS) can be a complicated matter. Here I summarize the different genetic causes of AS and provide general guidelines about how to use genetic tests to confirm the diagnosis of AS. First, let us look at the genetic mechanisms that cause AS: A chromosome 15 pair is illustrated for each class depicted but the other chromosomes are not shown. The P indicates the maternally-derived chromosome and the M indicates the maternally-derived one. The shaded chromosomes have a…
