Young Batten’s Patient Inspires Lawmakers to Create Rare Disease Advisory Council

Gov. Tom Wolf

Pennsylvania  Gov. Tom Wolf recently signed House Bill 239, establishing the Rare Disease Advisory Council. The bill, was introduced May 24 by state Rep. Marcy Toepel, R-Montgomery County, who said the bill is an outgrowth of contact with people in her district who are afflicted with rare diseases and don’t know where to turn for help.

Wolf said HB 239, which passed the Pennsylvania House and Senate unanimously, was particularly inspired by Garrett Coyne, a young constituent in Toepel’s district who has Batten disease, a genetic degenerative disorder affecting the brain, retina and central nervous system.

Rep. Marcy Toepel

Toepel said that with nearly 30 million Americans, including one in 10 Pennsylvania residents — two-thirds of them children — having a rare disease according to the National Institutes of Health, there is “absolutely a need” for this council, which will consist of the state secretaries of Health, Human Services, and Education (or their designees), the Insurance Commissioner (or his/her designee), and members of the public. Other at-large appointees can serve on the council on an ad hoc basis.

The council will bring together stakeholder groups, including medical experts, healthcare providers, patients, parents of children diagnosed with rare diseases, the scientific community, members of the health insurance and biopharmaceutical industries, caregivers, physicians, nurses, educators, and others with expertise in providing care to individuals with rare diseases. The goal is to give Pennsylvania’s 1.2 million rare disease patients a voice in the state government.

The council will be required to meet at least three times annually, and will serve as advisory body on rare diseases to the General Assembly and all other state and private agencies that provide services to, or are responsible for, care of individuals suffering from these disorders. 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 state, including the quality and cost-effectiveness of care, access to treatment and other relevant services. All reports will be made available to the public.

Tim Boyd

“Helping the rare disease community starts with ensuring that patients and families have a voice in government,” Tim Boyd, director of state policy at the National Organization for Rare Disorders (NORD), which worked on the bill, said in a press release. “Rare Disease Advisory Councils serve to evaluate and make recommendations to the state on issues related to health care access and coverage for rare disease patients. Rep. Toepel, who sponsored HB 239 and spearheaded its passage, is a great champion for rare disease families in Pennsylvania,” Boyd said.

“Far too often, individuals with rare and unique diseases can feel lost because services are not tailored to their specific needs,” Governor Wolf said in a press release. “We need to make sure that when a person is sick, no matter what their disease, or how rare it is, that that patient has the best care available, and that they can reach a high quality of life as they battle their health issues. This advisory council will help us do that,” he said.

According to NORD, there are more than 7,000 rare diseases that affect 200,000 or fewer people in the U.S., the majority of which do not have an effective treatment.