AS Foundations
-
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…
-
The Global Angelman Syndrome Registry
It is hard to believe that it has been a year since the Global Angelman Syndrome Registry was launched. This project is now the largest ever Angelman syndrome study to date, with over 450 participants, call us greedy but we want more. There are over 7000 people that “like” the Angelman Today Facebook page, we know that we can increase these numbers drastically and we want to take some time to explain to you why you should care and how your participation can shape Angelman syndrome research right now. To borrow from Rare Disease advocate Sharon Terry in her Ted talk, “Researchers don’t share. People told us you can’t herd…
-
Angelman Biomarkers and Outcome Measures Alliance and Roche begin patient-centered qualitative research to inform potential outcome measures for Angelman syndrome clinical trials
Nashville, Tenn. (June 22, 2017) – A collaborative group of parent-driven organizations seeking a cure for Angelman syndrome has teamed up with F. Hoffmann-La Roche Ltd, (Roche), one of the world’s largest pharmaceutical and diagnostics companies, in the first phase of a study that will support the design of human clinical trials and treatment development for the disorder. Roche has committed funding to create an Angelman syndrome conceptual model. Roche as a leader in personalized healthcare is taking a patient-centered approach to drug and treatment development. According to Roche, the first phase of the study aims to better understand the impact of Angelman syndrome on patients and their families through interviews with…
-
The Angelman Respite Centre
A Look Inside The Angelman Respite Centre 14400 Boul Gouin O., Pierrefonds, QC, H9H 1B1 www.angelman.ca
-
Sébastien LOEB, committed sponsor for the French Association of Angelman Syndrome (AFSA).
“I am happy to bring some help to the children of AFSA fight their diseases. If I can families to stay positive, I would be filled. We spent a lovely day during filming, it was nice to share these moments with Gatien, the team and the association. I give my full support to the AFSA, just like Sébastien Loeb Racing and we will be delighted to welcome the children in the future, on the circuits or other events. ” – Sébastien LOEB “Can you imagine a more beautiful relationship, more beautiful friendship for a disabled child that he can establish with a great champion, a great sportsman who agrees to…
-
Angels in Action – Melissa Adams
By Kat Adams Melissa is 12 years old and has Angelman syndrome UPD. She loves to play games and laugh at her big Brother Jacob’s jokes, she has a wicked sense of humor! Melissa won the ‘Child of courage’ award at an event in her home town, I was very proud that her fellow citizens chose to recognize her daily struggles and her massive achievements in this way. Melissa experiences life in such a way that every day is an adventure, she brings so much love and happiness into both mine and Jacob’s lives. We have set up a small Foundation in Melissa’s name to help support research into a cure for…
-
New Book: Life With An Angel
“What is Angelman Syndrome?” That is usually the first question we ask the doctor as soon as our child is diagnosed with this rare disease. The following questions may be of the kind: What can we do? Is there a treatment? What is their life expectancy? As soon as we become aware of the fact that there is no treatment or cure, our whole life is turned upside down. Each individual family deals with the situation the best way they can. Some choose denial. However, sooner or later, they will try to contact other families in the same situation who will be able to understand, to share their own experience…
-
The History of Angelman Syndrome By Syndrome Angelman – France
En 2015 nous commémorons les 100 ans de la naissance du docteur Harry Angelman et les 50 ans de la découverte du syndrome d’Angelman. C’est un médecin anglais, le docteur Harry Angelman, qui a le premier, en 1965, rapporté ses constatations chez trois enfants atteints du syndrome qui porte maintenant son nom. Ce médecin avait remarqué que les trois enfants présentaient une démarche guindée et sautillante, riaient d’une façon excessive, avaient des crises d’épilepsieet avaient une petite tête aplatie à l’arrière. Harry Angelman est né à Birkenhead le 13 août 1915 et a suivi les cours de médecine à l’université de Liverpool. Il avait observé trois enfants qui étaient sans rapport, mais avec des symptômes similaires (sévérité…
-
Le syndrome d’Angelman – Parcours de vie des adultes: A book by Anne Chateau and Odile Piquerez just published in France and in French
This work covers all the aspects of the life of young adults with a rare neurogenetic disorder, the Angelman syndrome. It is still a poorly understood disability, especially with regard to adults, many of whom have never been diagnosed or have been diagnosed belatedly. Sparkling personalities often jovial and exuberant, they involve their parents, caregivers, educators and specialists in an enigmatic situation on which this work attempts to cast a new light. However, the universe which is described is often less than joyous, it is often hard for everyone, “full of sound and fury” with episodes of difference, indifference, rejection and violence. This book raises questions as to the attitude…
-
International Angelman Day 2015 – Switzerland
http://www.angelman.ch/
