Toepel’s Bill to Support Pennsylvanians With Rare Diseases Moves to Governor’s Desk
HARRISBURG – Today, the House approved legislation with unanimous support that would provide patients in the Commonwealth who are living with a rare disease with much-needed information. The bill, sponsored by Rep. Marcy Toepel (R-Montgomery), would create a council charged with studying rare diseases in the Commonwealth.

“I became involved with this issue after meeting with a constituent who told me about the challenges his son is facing after being diagnosed with Batten Disease – a disease without a cure. His family has held countless fundraisers to invest in research of this extremely rare genetic disorder,” Toepel said.

Because research focuses on more common diseases, a real need exists for information on rare diseases. The council to be created would provide information that will be useful for patients, caregivers and other health care advocates.

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.

Both the National Organization of Rare Diseases and the March of Dimes support the bill.

“While situations like the one shared by my constituent are difficult to hear, it is necessary in understanding the challenges these families face and the urgency of their need. With the governor’s support, the Commonwealth will be a much more useful resource for the men, women and children who often feel desperately alone,” Toepel said.

As the Senate has already passed the bill, House Bill 239 now moves to the governor’s desk for consideration.

Representative Marcy Toepel
147th District
Pennsylvania House of Representatives

Media Contact: Alison Evans
717.260.6206 /

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