Rare Daily Staff

Rare diseases tend to be fairly heterogenous with patients with the same conditions often experiencing disparate manifestations and rates of progression. However, one issue that can cut across the millions of people with thousands of different rare diseases is stigma.

A new study in the journal Psychology & Health found that people with rare diseases experienced many different forms of stigma.

The researchers said that stigma is defined as a “discrediting attribute that distinguishes an individual from others by reducing them from a whole and usual person to a tainted discounted one.” They distinguish between “enacted” stigma, which occurs when someone experiences discrimination and “felt” stigma, which occurs with the fear of experiencing enacted stigma. The authors said while previous studies have touched on the way people with specific rare disease can experience some types of stigma, their study focused on enacted and felt stigma across a wide variety of rare diseases.

A previous study using the “Adults with Rare Disorders Support” survey, the largest psychological study of rare diseases, found rare disease patients experience higher rates of pain, fatigue, anxiety, and depression, as well as lower physical functioning and ability to participate socially compared to the general population and people with more prevalent disorders. An analysis of short responses from that survey also showed that stigma was a common concern, with it explicitly coded in 4.7 percent of responses, but broadly addressed in 31.5 percent of responses in regard to companionship support, doctor-patient communication, and employment/academic issue codes.

For the current study, researchers at the University of Houston and Oregon State University took a more holistic approach by qualitatively analyzing responses and using inductive coding to the “Adults with Rare Disorders” survey. They analyzed responses from 384 people with 178 different rare diseases.

The researchers coded 97 percent of responses with one or more of the codes within the enacted stigma themes and 16.1 percent with one or more of the codes within the felt stigma themes. They also noted that 79 percent of participants who mentioned hiding their rare disease from others or shame, had a code that fell under structurally and/or interpersonally enacted stigma themes. The researchers said that showed that participants rarely internalized stigma on their own without experiencing enacted stigma.

Many of the participants expressed the feeling of shame over their inability to work as much as they or others would like and their dependency on others for daily needs.

“While the challenges we identified can arise for anyone with a disability or chronic illness, they seemed especially pervasive and draining for our participants, which is likely related to the lack of available support from others with the same [rare disease], insufficient treatment options due to a dearth of research, and the need to self-advocate while educating uniformed healthcare providers,” the researchers wrote.

Many participants voiced feeling like a burden, struggling to contribute the societally expected amount of labor, and experiencing guilt about not being fully independent. They noted the constraints of needing to work full-time to receive healthcare benefits and afford food and housing, even when working exacerbated their symptoms or was physically impossible. They also expressed that the healthcare system was often unsupportive, challenging to navigate, and financially prohibitive based on socioeconomic status.

“To effectively combat stigma, the researchers say a multi-pronged approach is needed. This includes community mobilization and resistance, along with structural interventions, such as legal protection. “Cultural change is desperately needed to provide increased support and validation to [people with rare diseases],” they write. “Educating the public about [rare diseases] and advancing disability justice principles through community organizing could improve the lives of [people with rare diseases.]”

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