September 23, 2020

Pennsylvania Rare Disease Council Launches First-Of Its-Kind Needs Assessment Survey

HARRISBURG, PA — The Pennsylvania Rare Disease Advisory Council (PARDAC) today called upon the rare disease community to participate in a first-of-its-kind statewide needs assessment. The results of the survey will help provide a better picture of what rare disease patients face and guide the state’s future policies and initiatives related to rare diseases.
“Since the Pennsylvania Rare Disease Advisory Council was first created in 2017, Pennsylvania has quickly become a leader among states in its advocacy efforts for the rare disease community,” said Rep. Marcy Toepel. “We encourage all rare disease patients and their caregivers to take this opportunity to formally tell us about their challenges so we can shape a rare disease agenda that addresses their needs.”

The survey is believed to be the first statewide study to assess the difficulties and needs of all those affected by rare disease disorders in a state. It was led by Dr. Connie Deline, who is a physician and herself a rare disease patient, in collaboration with members of PARDAC including an epidemiologist, researchers, patients, and physicians. The survey was beta-tested and received Institutional Review Board approval.

“Time is not on the side of rare disease patients,” said Representative Mark Longietti. “There are many assumptions that are made about the rare community, but when it comes to shaping policies and moving legislation forward, we are best informed by assertions.

In Pennsylvania there are an estimated 1.2 million rare disease patients impacted by over 7,000 known rare disease disorders. Approximately two-thirds of those patients are children. Each disorder has its own manifestation, prognosis, and management plan. The survey will compile their input and provide data to help the Council establish priorities, inform initiatives, and provide a benchmark to measure progress. The Council also hopes the survey will help launch new collaborations with other organizations.

“While there are properties unique to specific rare disorders, there are common challenges to daily life,” said Senator Judy Ward. “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.”

Among the data points the survey will collected are time from onset of symptoms to final diagnosis, issues around delayed diagnosis, obstacles to treatment, experience with specialized care, challenges for parents and caregivers, quality of life concerns, supportive care needs and challenges related to Pennsylvania’s geographic and other demographic diversity.
“This survey is the result of months of thoughtful discussion, research and review on how the Council can best collect real data on what rare patients in Pennsylvania need,” said Senator John Blake. “Our goal as a Council is to be in the best position to properly advocate on behalf of the rare disease community.”

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 The survey will remain open until a representative number of respondents has responded, however PARDAC will begin reporting preliminary results at the beginning of 2021.
“The rare community deserves to be seen through a different set of lenses,” said Marie Conley, chair. “I want to thank all the rare patients and their caregivers who will take the time to share their experiences with us. Their strength in facing their disease and their diseases’ challenges inspire our work.”

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. The council 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 secretaries of Health, Human Services and Education, the Insurance Commissioner 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.

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