New Report on Rare Diseases in Pennsylvania Shines Light on Patients and Significant Barriers to Diagnosis, Treatment and Insurance Coverage

HARRISBURG, Pa. – An estimated 1.2 million Pennsylvanians are diagnosed with a rare disease, often living in isolation with significant challenges in obtaining medical treatment and insurance to cover their care. On Wednesday, September 25, some of these brave Pennsylvanians traveled to the State Capitol and shared their personal stories of struggle and achievement while living with a rare disease with state legislators. The PA Rare Disease Advisory Council (PARDAC) also unveiled a report on progress in documenting the incidence and prevalence of rare diseases in Pennsylvania and obstacles to affordable and effective treatment. 

More than two-thirds of rare disease patients in Pennsylvania are children. Their voices must be heard. 

PA Rare Disease Advisory Council members met with PA Rare Disease Caucus co-chairs Rep. Marcy Toepel (R-Montgomery), Rep. Mark Longietti (D-Mercer), Sen. John Blake (D-Lackawanna) and Sen. Judy Ward (R-Blair) and other legislators who are on the Rare Disease Caucus, the House Health Committee and Senate Health and Human Service Committee. 

Since the PA Rare Disease Advisory Council’s (PARDAC) creation in 2017, members have forged a national leadership role by gathering information and compiling yearly comprehensive reports that help policymakers, medical professionals, the health insurance industry, patients and the wider community better understand the impact of rare diseases in the commonwealth. The Council created a website, www.pardac.org, as a powerful resource to connect the rare disease community and their families to health systems, support organizations and other individuals who are living with a specific diagnosis. 

“Those of us who live with a rare disease know how challenging it can be first to receive an actual diagnosis and then to find medical professionals who can treat our disease while navigating complex and often elusive insurance coverage,” said Marie Conley, interim chair of the PARDAC who lives with Cushing’s Disease. “We’re one of less than ten states to have a statewide rare disease advisory council. Our work serves as a national model for how to engage the rare disease community to share resources and advocate for greater awareness and support for people living with these medical conditions.” 

According to the National Organization for Rare Disorders, there are more than 7,000 rare diseases that affect 200,000 or fewer people in the United States and most of these diseases do not have a treatment. 

About the PA Rare Disease Advisory Council 

The PA Rare Disease Advisory Council (PARDAC) 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.