Angelman syndrome is a genetic disorder caused by deletion of genes on chromosome 15 and is typically characterized by developmental delay, sleep disturbance, seizures, jerky movements, and frequent laughter or smiling.
Check out this article about Nash Molloy, the "happiest kid you will ever meet."
Nash's parents knew something was wrong when he couldn't move properly at six months. Shortly thereafter, he was diagnosed with Angelman Syndrome. Do you remember when you first learned of your child's diagnosis? How did you cope with the news?
RESEARCH STUDY: Angelman Syndrome investigators at University of California San Diego are partnering with facial recognition software developers to attempt to create a program that will assist doctors in recognizing Angelman Syndrome as early as possible so therapies can begin. This software, if successful may assist doctors in knowing which of their nonverbal and/or happy patients with intellectual disability should be tested. Patients with Angelman Syndrome and their siblings are needed. Please see below for more details. p=. What for? To develop a facial recognition software program that can help identify Angelman syndrome and Angelman-like syndromes p=. Why? To help clinicians decide what testing to order so that accurate diagnoses can be made as early as possible p=. What? Photos of faces taken from the front and/or from the side (profile) with any digital camera (not scanned images), for which you know the date of the photo p=. Who? Any child with *** syndrome and his/her siblings (controls are just as important!) p=. How? Contact Rachel Winograd, RN at 858-966-8453 or by email at HYPERLINK "mailto:email@example.com" firstname.lastname@example.org for more information or to enroll. Images can be e-mailed. Hints: 1. relaxed faces (neither smiling nor frowning) are best, but any will do 2. whole body photos are okay, we can crop out what isn’t needed 3. photos with other people in the are also okay, we can crop them out 4. any age okay, even babies!
Hi fellow angel mum, MANY angelman children ARE able to walk , in fact some can even jump and run. Those that struggle with walking do so for many different reasons, eg. balance issues, muscular tension/looseness, and also sometimes problems with vision/depth perception. Very few dont walk at all. 2 is still very young, as many AS kids continue to learn to walk till as late at 6. Has your son crawled yet? There is a great international listserve/forum for the angelman community where many more folk can respond to your questions on a daily basis. My son is 15 years old and is one of the few who has skeletal issues - so he has had 2 orthotic operations, to help improve his gait. Hope this helps.
Hi! My son shows all clinical symptoms - that is except for seizures and severe ataxic walking. He is only 2. We are currently waiting for the confirmation of his diagnostic tests, but I was wondering - are all kids with AS _unable_ to walk? He is ataxic with wide-spaced gait and arms up; but that is when he is trying to control his gait. I'm just wondering if there is such a thing as a child with AS who can walk unassisted. Thanks!
|Angelman Syndrome: Angelman Syndrome: The rare condition stopping kids from walking and talking - nine.com Australia||07/21/2018|
|AI technology can identify genetic diseases by looking at your face, study says||01/15/2019|
|Ultragenyx Announces Partnership with GeneTx to Advance Treatment for Angelman Syndrome||08/17/2019|
|The Angelman Network||
This is one of many links that can provide up-to-date info on Angleman Syndrome. The Angelman Network is based in New Zealand.
|A Clinical Guide||
This is a recent up-dated Clinical Guide - useful to print out and pass on to your child's specialists, teachers, etc.
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.FIND YOUR COMMUNITY
Our rare disease resources include e-books and podcasts
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.