The Experiences of Patients With Rare Diseases in Pennsylvania: A Community-Based Study

Abstract

Objective: Rare diseases collectively affect approximately 30 million people in the United States. Despite advances in genomic medicine, early diagnosis is challenging because of limited awareness of, accessibility to, and disparities in health care resources. We assessed the real-world experiences of patients with rare diseases in Pennsylvania and evaluated the effect of delayed diagnosis on psychosocial and financial burdens.

Methods: The Pennsylvania Rare Disease Advisory Council conducted a Rare Disease Needs Assessment Survey from September 2020 through January 2023. The survey, distributed through multiple channels, collected responses from patients, caregivers, and rare disease advocates in Pennsylvania. We analyzed quantitative and qualitative data on diagnosis, health care access, financial burden, and psychosocial support.

Results: A total of 1214 respondents participated, representing a diverse spectrum of rare diseases and demographic groups. More than half (57.8%) of respondents indicated diagnostic delays of ≥1 year, which were associated with additional misdiagnoses, increased annual spending, out-of-state travel, and reduced work and school hours; however, diagnostic delays were not associated with disease category. Many respondents (48.5%) reported >$5000 in annual spending related to care for their rare disease, and 24.9% were unable to access medications because of financial reasons. Diagnostic delays were associated with worse perspectives on the efficacy of care across multiple domains even after a correct diagnosis was achieved. Patients aged 0 to 20 years had a faster time to diagnosis than patients aged >20 years did.

Conclusion: Patients with rare diseases in Pennsylvania face substantial barriers to diagnosis, specialized care, and financial support. Despite policy initiatives, gaps remain in genetic testing access, specialist availability, and psychosocial resources. Addressing these issues through improved diagnostics, expanded access to care, and targeted policy changes is essential to enhancing patient outcomes and quality of life.

Keywords: crowdsourcing; health disparities; patient advocacy; public health; rare diseases.

Figure.

Number of PA Rare Disease Advisory Council respondents to the Rare Disease Needs Assessment Survey from each county, Pennsylvania, September 2020–January 2023. Counties are shaded by relative number of respondents for visualization purposes.