Abstract

Objective

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.

Design

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.

Results

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.

Conclusion

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.

中文翻译：

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罕见病患者耻辱感的归纳定性内容分析

摘要

客观的

有 6,000 多种已知的罕见病 (RD)，它们通常是严重的、慢性的和进行性的疾病。累积起来，患有 RD 实际上很常见，影响着全球约 3 亿人。虽然已经研究了一些特定 RD 的污名化，但在许多 RD 的大样本中检查污名可以更广泛地了解模式。

设计

我们使用归纳定性内容分析来分析对一个开放式问题的调查响应，该问题是关于 384 名患有 178 个不同 RD 的人的 RD 生活挑战。

结果

我们确定了八个代码，它们按照以下三个主题进行组织：结构制定、人际制定和感到耻辱。患有 RD 的人以医疗保健污名、教育/工作场所污名和整体缺乏可及性等形式经历结构性污名。他们还面临人际交往的污名，包括社会支持不足、缺乏他人的理解以及资本主义的生产力和自给自足规范。此外，他们会感到羞耻，以及通过身体健全的压力。

结论

RD 耻辱的可能解决方案包括增加对医疗保健专业人员的 RD 教育，社会转向优先考虑可访问性，加强对残疾人的法律保护，以及扩大以残疾司法为重点的社区组织。