Hi! Thank you so much for coming to learn more about Angelman Syndrome!

In May 2022 we received the devastating news that our 19 month of son James has a rare neurogenetic disorder called Angelman Syndrome (pronounced Angel-man). Affecting approximately 1 in 15,000 live births or 500,000 people worldwide, individuals with AS typically have balance issues, motor impairment, debilitating seizures, disruptive sleep cycles and development delays. Some do not walk; most do not speak. Thankfully, these individuals typically also have a happy demeanor, characterized by frequent laughter, smiling and excitability. And James most certainly possesses these traits. 

Angelman syndrome is a single-gene disorder caused by the loss of function in the UBE3A gene on the maternal 15th chromosome. The majority of cases of AS are caused by a sporadic (non-inherited) deletion of this gene on the maternal chromosome. And this is the case for James as well. 

Because of a group of parents who have been working tirelessly for 15 years to raise money and fund research, we are hopeful that we can #CureAngelmanNow! In fact, it has been said that “Of all the childhood genetic neurological disorders of the brain, Angelman Syndrome may be the single best candidate for developing a definitive treatment (aka a cure).” We are so hopeful! 

Various clinical trials are currently underway including many promising ones funded by the Foundation for Angelman Syndrome Therapeutics (FAST). We couldn’t be more excited to align with such a powerful organization that is truly leading the way in finding a cure. Our angel’s futures have never looked brighter! We owe it to this wonderful community and constant fundraising efforts for making these incredible scientific strides possible. We hope that you can join us in supporting a brighter future for James. Of all the things we hope for, we cannot wait to hear him speak one day – and we believe that day is coming.