Rare Disease Patient Survey-Qualitative and Quantitative Summary

The 2020 Rare Diseases Heath Care Access Study set out to learn more about rare disease patients’ barriers to care, providing valuable quantitative information related to the rare disease community. In 2025, this study was further evaluated with a focus on qualitative information and published as: “Lack” and “Finally”: A Qualitative Analysis of Barriers and Facilitators in Rare Disease Healthcare. This summary includes key qualitative and quantitative information from both studies.