February 16, 2016
BENEFITING: ANGELMAN SYNDROME FOUNDATION INC
Angelman Syndrome occurs in one out of 15-20,000 births. It is a rare neuro genetic disorder that causes developmental delays, lack of speech, seizures, among other medical issues. People with AS require life long care. Angelman Syndrome occurs when there is either a deletion or mutation on the maternal side of the 15th chormosome and the severity of the syndrome is largely dependent on the size of the deletion on the chromosome. In Liam's case, he has a small deletion leading to a more mild form of AS. Eric and I are choosing to race for Liam for many reasons. First, there are multiple clinical trials happening this year. Some are for drugs that could help restore some motor function and speech. Another clinical trial is focusing on gene therapy that could actually cure Angelman Syndrome. Researchers have found a way to activate the healthy paternal side of the 15 th chromosome. There has been success in rats already and they will be testing in humans soon. The FDA has given this therapy an Orphan Drug designation which will fast track it even more. A recent timeline estimated that this therapy could be available in the next 7 years, potentially sooner. In other words, there will be a cure in Liam's lifetime. We are asking for your help to support the researchers at the Foundation for Angelman Sydrome Theraputics who are making this cure a reality. The most important reason Eric and I will race is because, until a cure is available, people with Angelman Syndrome cannot. They face challenges that you and I can't even imagine. Normal daily tasks take years for them to master, if they are able to do them at all. Children and adults with AS deserve to have the same opportunities as the rest of us. Knowing that a cure is so close motivates Eric and I to do our part to educate and advocate.