Rare Disease Community to Benefit from Toepel’s New Law
HARRISBURG – After a bill drafted by Rep. Marcy Toepel (R-Montgomery) that will provide much-needed support to the rare disease community received unanimous support from the General Assembly, Gov. Tom Wolf recently signed it into law.

“Joe Coyne, a resident of the 147th District, visited my office to explain the needs of his family and the challenges that come with having a child diagnosed with Batten Disease. He told of the disconnect between those with a rare disease and those who serve the needs of the rare disease community,” Toepel said. “As a mother and grandmother myself, our conversation moved me so strongly that I met with stakeholder groups, including patients, doctors, hospitals, the life sciences, insurance representatives, and state departments, and began drafting a bill soon after that.”

The law requires that a council be created to study rare diseases to provide information to patients, caregivers and other health care advocates. Currently, information is scarce as research focuses on common diseases.

According to the National Institutes of Health, nearly 30 million Americans – and one in 10 Pennsylvanians – have rare diseases. A disease is considered rare if it affects fewer than 200,000 Americans. There are nearly 7,000 such diseases, and they tend to be serious and/or lifelong, and approximately two-thirds of those affected are children.

Within two years, the council must provide its first biennial comprehensive report regarding issues relating to management, monitoring and surveillance; education; detection; diagnosis; and information and care regarding rare diseases in the Commonwealth, including the quality and cost effectiveness of care, access to treatment and other relevant services for individuals affected by rare diseases. All reports will be made available to the public.

The advisory council would consist of representatives from state agencies and the scientific community, as well as members of the health insurance and biopharmaceutical industries. Patients, caregivers, physicians and nurses would also be included. The council would be required to meet at least three times each year. According to the National Organization of Rare Diseases, PA becomes the sixth state in the nation to implement a Rare Disease Advisory Council.

“I am happy that this law puts Pennsylvania at the national forefront in supporting the rare disease community. I encourage constituents to reach out regarding issues they face, as those conversations guide my efforts in Harrisburg. Government best provides for its citizens when there is open communication. My door is always open, and I look forward to continuing to talk with people about how state government can serve them,” Toepel added.


Because the Coyne family, who prompted me to draft the legislation, could not attend the bill signing, today I presented them with a pen that the governor used to sign a copy of the bill. Special thanks to Joe and Nancy and their sons, Palmer and Garrett, for sharing the experiences they’ve had because Garrett lives with Batten Disease.

Representative Marcy Toepel
147th District
Pennsylvania House of Representatives

Media Contact: Alison Evans
RepToepel.com / Facebook.com/RepToepel

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