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

SUBMITTER: Sussman JH 

PROVIDER: S-EPMC12414988 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature