|Posted:||September 17, 2013 10:22 AM|
|From:||Senator Lisa M. Boscola|
|To:||All Senate members|
|Subject:||Pitt Hopkins Syndrome Day|
|I invite you to co-sponsor a resolution designating September 18, 2013 as the first annual ‘Pitt Hopkins Syndrome Day’ in Pennsylvania.
Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder characterized by intellectual disability and developmental delay that can range from moderate to severe.
There are only approximately 250 confirmed cases of PTHS worldwide. Other symptoms include possible breathing problems, seizures, gastrointestinal issues, and distinctive facial features.
Pitt Hopkins is so uncommon that little attention has been directed toward it in the form of major pharmaceutical research. Given its rarity, online support groups play a pivotal role for individuals, families and their loved ones to connect and increase awareness.
Parents & helped to form the Pitt Hopkins Research Foundation with a common goal in mind to fund research, find treatments, and eventually discover a cure. With the help of individuals all over the globe, the Foundation has funded over $500,000 in research dedicated to PTHS; research that is important to other autism spectrum and neurologic disorders.
The Pitt Hopkins Research Foundation has declared September 18th, 2013 to be recognized as the first annual International Pitt Hopkins Syndrome Awareness Day. The date was chosen to bring attention to the fact that it is a disorder caused by a spontaneous mutation on the 18th chromosome. The hope is to expand recognition of the disorder to more families as well as medical professionals.
Introduced as SR187