AS Foundations
-
Angel’s Week Off Winners Share Their Vacation With Us
By Mary and Rory Moen How do I begin to tell everyone what this “Week Off” has meant to us. It was way more than a trip of a lifetime. First off, having “experts” like angel mom Lisa Jamieson and the Hamms’ PCA, William Twiner providing care for our angel Samantha turned out to be one the best experiences ever. Sam’s aunties learned so much from William and Lisa. What they left behind was knowledge, inspiration and motivation. To start with, Sam fell in love with William immediatley! Just to know that Sam was in good hands and being completely spoiled, allowed for us to really let go and relax. We had been in a pictello rut and stopped…
-
Angelman Network – International Angelman Day 2014
-
Sindrome de Angelman Mexico
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,…
-
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…
-
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…
-
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…
-
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…
-
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
-
Angel Karly Foundation – September article
www.angelkarly.org
-
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…
