State Sens. John Blake (D-Lackawanna/Luzerne/Monroe) and Judy Ward (R-Blair) joined members of the PA Rare Disease Advisory Council (PARDAC) to launch a first-of-its-kind statewide needs assessment that will help guide the state’s future policies and initiatives related to rare diseases.
The statewide study will assess the difficulties and needs of all those affected by rare disease disorders in the Commonwealth. The assessment was developed in collaboration with Dr. Connie Deline, who is a physician and herself a rare disease patient, and members of PARDAC including epidemiologist, researchers, patients, and physicians. The survey was beta-tested and received Institutional Review Board approval.
“With thousands of rare diseases in Pennsylvania and varying symptoms and diagnoses, it is imperative that we raise awareness and fight for legislative initiatives and policies that can positively impact the lives of our residents with a rare disease,” Blake said. “The statewide needs assessment announced today will provide invaluable data to help inform those important decisions and I applaud the work and advocacy of Dr. Deline and PARDAC.”
Sen. Blake, Sen. Ward and state Reps. Marcy Toepel (R-Montgomery) and Mark Longietti (D-Mercer) serve as co-chairs for Pennsylvania’s Rare Disease Caucus for the 2019-20 Legislative Session. The caucus advocates for the estimated 1.2 million rare disease patients impacted by over 7,000 known rare disease disorders. Approximately two-thirds of those patients are children.
“While there are properties unique to specific rare disorders, there are common challenges to daily life,” Ward said. “This survey will enable the Council to investigate the impact of rare disease and offer the opportunity for Pennsylvania’s rare disease community to provide input that will shape future focus and initiatives.”
The survey is open to rare disease patients residing in Pennsylvania and takes approximately 10 minutes to fill out. If the patient with the rare disease is under the age of 18, or over the age of 18 in need of assistance, a parent, legal guardian or advocate may complete the survey on behalf of the person with a rare disease. Individuals who want their voices heard can fill out the survey at PARDAC.org. PARDAC will begin reporting preliminary results at the beginning of 2021.