An inductive qualitative content analysis of stigma experienced by people with rare diseases

There are more than 6,000 known rare diseases (RDs), which are often serious, chronic, and progressive conditions. Cumulatively, having a RD is actually common, impacting an estimated 300 million people worldwide. While the stigmatization of some specific RDs has been studied, examining stigma in a large sample of many RDs allows for a broader understanding of patterns.

We used inductive qualitative content analysis to analyze survey responses to an open-ended question about challenges of living with a RD among 384 people with 178 distinct RDs.

We identified eight codes which were organized under the following three themes: structurally enacted, interpersonally enacted, and felt stigma. People with RDs experience structurally enacted stigma in the forms of healthcare stigma, education/workplace stigma, and an overall lack of accessibility. They also face interpersonally enacted stigma, including insufficient social support, a lack of understanding from others, and capitalist norms of productivity and self-sufficiency. Additionally, they experience felt stigma related to shame and the pressure to pass as able-bodied.

Possible solutions to RD stigma include increased education about RDs for healthcare professionals, a societal shift towards prioritizing accessibility, strengthened legal protections for disabled people, and expanded disability justice-focused community organizing.