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Senate of Pennsylvania
Session of 2015 - 2016 Regular Session


Posted: July 23, 2015 03:13 PM
From: Senator Lisa M. Boscola
To: All Senate members
Subject: September 18 as Pitt Hopkins Syndrome Awareness Day in PA
I invite you to join me in co-sponsoring a resolution I intend to introduce in the near future designating September 18, 2015 as the third annual ‘Pitt Hopkins Syndrome Day’ in Pennsylvania.

Many individuals affected by Pitt Hopkins exhibit features of autistic spectrum disorders, which are characterized by impaired communication and socialization skills. Pitt Hopkins is typically characterized by intellectual disability, developmental delay, distinctive facial features, microcephaly and myopia. It can also include breathing issues, seizures and gastrointestinal problems.

Detected by a specific variation that is present in one’s DNA, Pitt Hopkins is found to be caused by a mutation of the TCF4 gene on chromosome 18.

There are approximately 500 cases reported worldwide. The topic was first published in 1978 by two physicians in the Australian Pediatric Journal. Treatment strategies involve early intervention programs and daily therapies; the individual is often nonverbal.

Pitt Hopkins’ overall prevalence is still largely unknown, and little attention has been directed toward it as far as major pharmaceutical research. Given its rarity, families and professionals rely on online forums and pages to share information, stories, support and other helpful materials with one another.

In 2008, through an initial informational website, multiple families banded together and went on to establish the Pitt Hopkins Research Foundation in the summer of 2013. Today they are an all-volunteer effort committed to helping fund research, discover treatments, and contribute to finding an eventual cure. With the help of their volunteer board, officers and members, they raised $430,000 in 2014. 98% of all funds raised and donated go to researching a cure; additionally, such research has been important to other autism spectrum and neurologic disorders.

Here in Pennsylvania, Jack and Heather Maginn and their family have been advocating and sharing the experiences of their 5-year-old daughter Rylie, a young and growing girl who was first diagnosed at 6 months.

September 18th is recognized as International Pitt Hopkins Syndrome Awareness Day. The date was chosen as a way to call additional attention to the fact the disorder is 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. This is a reintroduction of SR 187 from the previous session, and it is my hope that you join me in lending your co-sponsorship to this important issue.

Introduced as SR187