February 15, 2013 is the inaugural International Angelman Day. Most people haven't heard of Angelman Syndrome. It's a rare genetic disorder that causes global developmental delays, lack of speech, seizures, lack of motor coordination, sleep disturbance, etc.
Most importantly, it's often misdiagnosed as autism or cerebral palsy. There are also varying degrees of severity. Some children can't walk. Others can run and swim.
Today families and friends around the globe will celebrate children and adults affected by the syndrome and continue to expand recognition for the disorder and help raise awareness and funding for a cure. AS is caused by loss of function of the UBE3A gene located on the 15th chromosome.
Touched by an Angel
Children with AS are referred to as "angels." They have an usually happy demeanor and often laugh at inappropriate times. Like when someone on a TV show drops or breaks something or falls. That's hilarious in fact, according to my daughter. She is 7 years old and has Angelman Syndrome.
Ruby Tuesday is donating 20% of proceeds Friday, February 15th to AS research when diners present a flyer at participating restaurants. About 100 locations -- including the one in Rockwall -- are involved in the fundraiser, which benefits FAST (Foundation for Angelman Syndrome Therapeutics). Click here to print a flyer for Ruby Tuesday. Ruby Tuesday is known for its handcrafted burgers.
Colin Farrell's Involvement
Actor Colin Farrell has helped spread awareness for Angelman Syndrome. His son James, 9, has AS. His support means a lot to families facing the challenges of raising a child with severe developmental hurdles. Recently he's spoken about his son and Angelman Syndrome on several talk shows while promoting his movies.
People from around the world connect through Facebook to discuss life with a child with Angelman Syndrome. There's even a Facebook group called DFW Angel Moms, where women in the Metroplex share their challenges, resources and support through social media.
In DFW, the National Angelman Syndrome Walk is being held on May 18, 2013 at Bethany Lakes Park in Allen. Details are forthcoming.