FAQ

Since the Council's inception in 2017, it has sought to determine the incidence and prevalence of rare diseases throughout the Commonwealth in term of the lives affected. It has progressed from the estimated population delivered in the year one report to a methodology for analyzing patient records. Determining an actual count of rare disease patients will require collaboration with additional stakeholders to obtain and analyze data.

Having a rare disease can be a challenge for the medical profession; the patient becomes the educator and medications are often limited. In the case of an emergency, doctors and nurses are usually hesitant to believe what the patient is telling them and can delay proper care. If the rare disease is also a known incurable disease, it is like having an alarm clock without an off switch for the snooze.

Paul - Cystinuria - Lancaster, PA

A rare disease is a disease or condition that affects fewer than 200,000 people in the U.S. It is estimated that there are 7,000 rare diseases affecting 30 million Americans, or 7 to 8 percent of the population.

The PA Rare Disease Advisory Council serves as an advisory body on rare diseases to the General Assembly and all other relevant state and private agencies that provide services to or are charged with the care of individuals with rare diseases. Its mission is to improve the quality of life for all those affected by rare diseases in Pennsylvania. PARDAC was created through legislation (House Bill 239) and signed into law as Act 14 on July 7, 2017 by Governor Tom Wolf. The council consists of the secretaries of Health, Human Services, and Education (or their designees), the Insurance Commissioner (or his/her designee), and members of the public, including various health practitioners, health insurers, researchers, parents of children with rare diseases, self-advocates and others with expertise in providing care to individuals with rare diseases.

We serve the estimated 1.2 million Pennsylvanians affected by rare disease. It was established through bipartisan legislation in the Pennsylvania General Assembly and signed into law by Governor Tom Wolf in July 2017 (Act14).

The group meets regularly, in person and remotely, to advance the council’s work. Our council is now in its second year. In our first year, we accomplished the significant goal of producing a comprehensive preliminary report. Moving forward, we want to become the premiere resource for information related to rare diseases by accomplishing specific goals as outlined in the preliminary report:

  • Define the incidence and prevalence of rare diseases
  • Develop a comprehensive and flexible framework to determine needs of patients and caregivers
  • Provide a comprehensive and accessible source of information on rare diseases in Pennsylvania
  • Streamline the diagnostic evaluation, management and support for those with rare diseases
  • Promote collaborations with rare disease organizations, advisory councils, the medical community and academic medical centers
  • Enhance access to new and existing therapies, programs and services to improve quality of life

As one of just eight states with a Rare Disease Advisory Council, we strive to be a national leader in transforming the lives of those affected by rare diseases through collaboration, support, education and advocacy. We want to ensure Pennsylvanians impacted by rare diseases that they are not alone. We recognize the challenges before us and understand we can’t be all things to all people but we are resolved in our mission “to improve the quality of life for all those affected by rare diseases in Pennsylvania.”

DATA

1.2 million Pennsylvanians live with a rare disease.

See the data