My name is Orion and I was born with Angelman syndrome (AS), which means that I am missing the UBE3A gene on my 15th chromosome. It turns out that this is a very important gene because it makes a protein that helps neurons function properly. Since my neurons aren't firing like they are supposed to, it is hard for me to do many things that come easily to everyone else, like walking, talking and using a fork. Although I work really hard at everything, it takes me far, far longer than it would take a typically developing child to, say, sit up, and there are some things, like talking, that I am afraid I may never be able to do no matter how hard I try. So, while I really like being Orion, I would still like my UBE3A gene back.
Individuals with AS typically have balance issues, motor impairment and debilitating seizures. Some patients never walk. I can sort of walk, but only because daddy made me practice outside every day for over six months. I didn't like it. Most people with AS never speak. I am trying, but so far I can't make the connections. I also have seizures, which I don't like one bit.
Despite its often devastating effects, Angelman syndrome is a simple disorder involving only one gene, that important UBE3A gene I mentioned earlier. FAST (Foundation for Angelman Syndrome Therapeutics) scientists have already cured AS in the lab using several different approaches. FAST is committed to bringing life-changing treatments for Angelman syndrome to clinical trial within two years – but they need our help!
FAST has brought together a multidisciplinary team of more than two-dozen scientists from top universities and pharmaceutical companies to join forces on a focused path to a cure. Their work will change my life and the lives of others like me. The cure for Angelman syndrome will also help related disorders like autism and Alzheimer’s disease move closer to finding their cure. FAST is the largest non-governmental funder of Angelman syndrome research and the only organization with a detailed plan towards a cure.
FAST is committed to bringing life-changing treatments to clinical trial within two years, but we need your help. We are asking everyone to join us in the Cure Angelman Now initiative because, together, we CAN do this. Our time is now, and every single dollar counts in getting us closer to our goal!
Please share my story with your friends and family, I want to be cured!!