Cambridge, MA – February 25, 2025 – The future of health care is being forged in the crucible of rare disease. A new survey led by Susannah Fox, author of Rebel Health: A Field Guide to the Patient-Led Revolution in Medical Care (The MIT Press), finds that 15% of U.S. households are affected by rare disease or an undiagnosed illness. Their lives are characterized by extreme stress, often matched by their resourcefulness.
"People living with rare diseases push the edges of what is possible by using technology to connect with clinicians, with new information sources, and with each other," says Susannah Fox, author of the report, Rare Disease in the U.S. 2025. "They demonstrate that ingenuity and being open to learning from peers can overcome the confusion and loneliness of an unusual diagnosis. Truly, there are people who would love to help you, if only they knew how to find you."
The first probability-based national survey to measure the rare disease population has found that 8% of U.S. adults say they or someone they live with has ever been told by a doctor or other health professional that they have a rare disease (defined as affecting fewer than 200,000 people in the U.S.). Moreover, an additional 7% of U.S. adults living in non-rare-disease households say they or someone they live with is currently experiencing an illness that doctors or other health care professionals have not been able to diagnose. Together, they represent 15% of U.S. households, nearly 20 million, affected by rare disease or an undiagnosed illness.
Telehealth options are important to rare disease households: 63% of adults living in rare disease households have, in the past year, seen a doctor or other health care provider, such as a specialist, online or via a telehealth appointment, compared with 45% of those not living in a rare disease household. Twenty-nine percent have, in the past year, seen a mental health professional or therapist online or via a telehealth appointment, compared with 18% of survey respondents who do not live in a rare disease household.
Connections with health peers are a key resource: Half of survey respondents who reported living in a rare disease household say they have, in the past year, gone online to find other people who might have health concerns similar to their own, compared with 37% of those not living in a rare disease household.
AI as a research assistant: In addition, 38% of respondents living in a rare disease household have, in the past year, used an AI tool such as ChatGPT or Gemini to learn about a health condition or treatment options, compared with 21% of those not living in a rare disease household.
This study was conducted by SSRS, a Pennsylvania-based research firm, on its Opinion Panel Omnibus platform for Susannah Fox and ARCHANGELS, with support from the Association on Aging in New York. Respondents living in rare disease households are from every region of the U.S., with no significant differences among age groups, people with various levels of education or income, or political party identification.
