People with rare diseases who live in the United States have a poor health-related quality of life and experience significant stigma, according to a study published in the Orphanet Journal of Rare Diseases.

A rare disease in the United States can be defined as any disease in which the prevalence is less than 200,000 cases. Diseases that fall under this category can be diverse, but they tend to share a few similarities: they tend to be chronic, genetic, and involve multiple systems in the body.

Rare diseases are challenging for physicians to manage; they are also a massive burden on the lives of patients. In some places, patients with rare diseases do not have access to specialist care. Even in an environment in which specialist care is possible, patients might still feel that the healthcare they receive is incompetent or ineffective.


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In addition, patients with rare diseases often report symptoms of mental illness, as well as experiencing stigma related to their disease.

“The challenges involved with living with a [rare disease] described above have been found to take a toll on health-related quality of life—an individual’s perceived physical, mental, and social health,” the authors of the study wrote.

The Importance of Sharing Your Rare Disease Story

The research team set out to identify patient satisfaction levels among adults with rare diseases. This involved examining cases of anxiety and depression, as well as comparing the health-related quality of life and stigma. They conducted an online study and recruited adults living with a rare disease or parents/caregivers of someone living with a rare disease. A total of 1639 individuals responded to the survey.

The findings of this questionnaire were highly nuanced. Importantly, it showed that nearly half of the participants gave their initial provider a “poor” score in terms of their knowledge of rare diseases. In addition, participants with rare diseases had a poorer health-related quality of life in all domains compared to adults with common chronic diseases. Fatigue and stigma were also commonly experienced in association with depression and anxiety.

“Future work can address these common areas of concern across [rare diseases] to improve health-related quality of life for both adults and children with [rare diseases] in the US,” the authors recommended.

Reference

Bogart K, Hemmesch A, Barnes E, et al. Healthcare access, satisfaction, and health-related quality of life among children and adults with rare diseasesOrphanet J Rare Dis. 2022;17(1):196. doi:10.1186/s13023-022-02343-4