-
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…
-
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…
-
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…
-
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…
-
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,…
-
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…
-
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…
-
Letter from the Editor – 2013 Holiday Edition
The Holiday Season is upon us ‘Tis the season for giving thanks and celebrating with friends and family. Time for office parties, dinner parties, and time to take-out the good-dishes parties. I will begin by thanking everyone who has helped create and support Angelman Today! Thanks to all of the readers who have reached out and expressed your appreciation for having such a wonderful new resource. I know that it is from the bottom of our hearts that we work so hard to help bring the global community together and share our experiences. As parents, we work on Angelman Today in between caring for our Angels – which you know…
-
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
-
Angels in Action – Eddyto’s Story
Eddyto was born a healthy baby at 37 weeks. He has a sister aged 4 and lives in Guatemala, Latin America. Eddyto was diagnosed with Angelman Syndrome, del +, Class II, at 11 months of age. We have been working hard ever since with nutritional therapy, supplements and the NACD program. Eddyto has come a long way and we are doing everything we can to support him to achieve his maximum potential in health and development. In addition to having Angelman Syndrome, Eddyto took another hard blow at 7 months of age. His third set of influenza, DTP and hepatitis B vaccines was too much for his body to handle…
