Dr. Stormy Chamberlain recently opened the doors of her University of Connecticut (UConn) Health Center laboratory to the Kelly Family of Plantsville. Marcy and Christopher Kelly’s eldest son Nicholas, age 3, was diagnosed with Angelman Syndrome (AS) when he was just 18 months of age.
AS is a neurogenetic disorder that occurs in approximately one out of 15,000 live births. People with AS are developmentally delayed, have difficulty with balance and walking, sometimes laugh inappropriately and experience seizures. They are noted to have a happy demeanor and loving disposition, but many have limited or no speech and will require care for their entire lives.
AS occurs equally in males and females and in all ethnic groups. It is often misdiagnosed as autism or cerebral palsy. Many, especially adults and minorities, remain undiagnosed. Studies have revealed links between AS and autism, but many families are still unaware that genetic testing is available to confirm an official diagnosis.
Dr. Chamberlain was recently awarded a two-year, $200,000 grant from the Angelman Syndrome Foundation (ASF) to further her research using induced pluripotent stem cells (iPSC) to model and study human imprinting disorders, including Angelman Syndrome. Families from across Connecticut came together and brought their children on a tour of the lab, discussed the ongoing research and met Dr. Chamberlain’s research team.
The Kelly family will be participating in the Fifth Annual Connecticut walk to benefit the Angelman Syndrome Foundation. Dr. Chamberlain’s team, along with over 20 AS families will join them at the walk on Saturday, May 16 at Wickham Park in Manchester.
This is a national event, with walks hosted in cities across the country. Registration and check-in begin at 9 a.m. and the one-mile walk begins at 10 a.m. Entrance into the park is free for those participating in the walk.
UConn Health Center is a sponsor of the walk. The Kelly Family is hoping to add to the $112,000 that has been raised by the Connecticut walk site over the last four years. To join Team Nicholas or to make a donation in Nicholas’ honor, log onto www.angelman.org.