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House Co-Sponsorship Memoranda
House of Representatives
Session of 2015 - 2016
Regular Session
MEMORANDUM
| Posted: | February 24, 2015 12:58 PM |
|---|---|
| From: | Representative Frank Farina and Rep. Sid Michaels Kavulich |
| To: | All House members |
| Subject: | Designating February 28, 2015, as “Rare Disease Day” in Pennsylvania |
| In the near future, I will introduce a resolution proclaiming February 28, 2015, as “Rare Disease Day” in Pennsylvania. There are nearly 7,000 diseases and conditions considered rare, affecting almost 30 million Americans and thousands of Pennsylvanians. A rare disease is defined by the federal Orphan Drug Act of 1983 as any disease affecting fewer than 200,000 people. Many rare diseases are serious and debilitating conditions that have a significant impact on the lives of those affected and their loved ones. Individuals and families affected by rare diseases often experience feelings of isolation, difficulty obtaining accurate and timely diagnoses, and few available options for treatment access or reimbursement. The struggles of a rare disease are currently affecting the family of Madilyn “Madi” Rose Perry, a 17-month old girl from Scranton. On October 23, 2014, Madi was diagnosed with GM1 gangliosidosis, which is an inherited disorder that progressively destroys nerve cells in the brain and spinal cord. The disorder is caused by a mutated gene that fails to tell the body to produce an enzyme called beta-galactosidase. Without this enzyme, the body cannot break down GM1 ganglioside and it accumulates toxic levels of GM1 ganglioside that progressively destroy nerve cells. Signs and symptoms become apparent in infants after six months during which time development slows, muscles used for movement weaken, and infants lose the abilities and skills they had previously acquired. As the disorder progresses, organs can enlarge, skeletal abnormalities can form and vision loss can occur. GM1 gangliosidosis is extremely rare, affecting 1 in 100,000 to 200,000 individuals. Madi’s story has inspired me to raise awareness of rare diseases in Pennsylvania. While nearly 7,000 rare diseases have been identified by the National Institutes of Health, only about 200 have treatments approved by the U.S. Food and Drug Administration. Many affected individuals and their families struggle to obtain an accurate diagnosis, and accessible and affordable treatment. Please consider joining me in sponsoring this important legislation. |
Introduced as HR127