ABOUT ANGELMAN SYNDROME
-There are a few heartwarming videos below showing some individuals who have AS!
-AS occurs most commonly due to a deletion of the UBE3A gene on the maternal copy of chromosome 15.
-Often times healthy individuals may have a deletion on a chromosome, but the paternal copy will pick up the slack and we don't express any differences. But in AS the paternal copy is silenced so there is no expression of the UBE3A gene anywhere in the brain. (More on the different types can be found by clicking here.)
-AS affects 1 in 15,000-20,000 individuals.
-Individuals with AS have developmental and motor delay. For example, Jett (at 1 year) still can’t consistently roll over and only ever has about 10 times. (Typically a child can roll over by 4-6 months)
-They never have ANY speech (the most heartbreaking fact for us as parents). Rarely in some cases those with AS can say 1 or 2 words or use 1 or 2 signs. But otherwise these individuals depend on a communication device to help them speak to their parents and caregivers.
-Some may never walk, and if they do it likely won’t happen until 3 or 4.
-Seizures (in more than 90%) typically begin after age 1.
-They live a full lifespan and are fully dependent on a caregiver.
"Angels" are known for their incredibly happy demeanor and can light up any room!