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Senate Co-Sponsorship Memoranda
Senate of Pennsylvania
Session of 2013 - 2014
Regular Session
MEMORANDUM
| Posted: | September 4, 2014 02:55 PM |
|---|---|
| From: | Senator Lisa M. Boscola |
| To: | All Senate members |
| Subject: | Pitt Hopkins Syndrome Day - Resolution |
| I invite you to co-sponsor a resolution designating September 18, 2014 as the International 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 350 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 help advocate. Parents & professionals helped to form the Pitt Hopkins Research Foundation with common goals in mind including funding research, finding treatments, and eventually discovering a cure. It is an all-volunteer organization. With the help of individuals all over the globe, the Foundation has raised and distributed over $500,000 dedicated to PTHS research – an effort that is also important to other autism spectrum and neurologic disorders as well. The Pitt Hopkins Research Foundation has proudly declared September 18th, 2014 to be recognized as its second annual International Pitt Hopkins Syndrome Awareness Day. The date of the 18th 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 - particularly pediatricians so that they can refer their patients for genetic testing in a timely manner. |
Introduced as SR436