Rare diseases, defined as having a prevalence inferior to 1/2000, are poorly understood scientifically and medically. Appropriate diagnoses and treatments are scarce, adding to the burden of living with chronic medical conditions. The moral significance of rare disease experiences is often overlooked in qualitative studies conducted with adults living with rare diseases. The concept of morally problematic situations arising from pragmatist ethics shows promise in understanding these experiences. The objectives of this study were to (1) acquire an in-depth understanding of morally problematic situations experienced by adults living with rare diseases in the province of Québec and (2) to develop an integrative model of the concept of morally problematic situations. To this end, an online survey targeting this population was developed through a participatory action research project. Respondents provided 90 long testimonies on the most important morally problematic situations they faced, often in healthcare settings. An integrative model was developed based on various qualitative analyses of these testimonies and relevant literature. The integrative model showcases that morally problematic situations have causes (i.e., contextual and relational factors, personal factors, jeopardized valuations), have affective repercussions (i.e., emotions and feelings, internal tensions), prompt action (i.e., through empowerment strategies leading to the evolution of situations), and elicit outcomes (i.e., factual consequences, residual emotions and feelings, positive or negative resolutions). In sum, this study advances understanding of the moral experiences of adults living with rare diseases while proposing a comprehensive conceptual tool to guide future empirical bioethics research on moral experiences.

罕见病被定义为患病率低于 1/2000，科学和医学上对其了解甚少。适当的诊断和治疗很少，这增加了患有慢性疾病的生活负担。在对患有罕见疾病的成年人进行的定性研究中，罕见疾病经历的道德意义常常被忽视。实用主义伦理产生的道德问题情境的概念在理解这些经历方面显示出了希望。本研究的目的是（1）深入了解魁北克省患有罕见疾病的成年人所经历的道德问题情况，以及（2）开发道德问题情况概念的综合模型。为此，通过参与性行动研究项目开展了针对这一人群的在线调查。受访者针对他们所面临的最重要的道德问题情况（通常是在医疗保健环境中）提供了 90 份长篇证词。基于对这些证词和相关文献的各种定性分析，开发了一个综合模型。综合模型表明，道德问题的情况是有原因的（即背景和关系因素、个人因素、估值受损）、有情感影响（即情绪和感觉、内部紧张）、迅速采取行动（即通过赋权策略导致道德问题）。情况的演变），并得出结果（即事实后果、残余情绪和感受、积极或消极的解决方案）。总之，这项研究增进了对患有罕见疾病的成年人的道德体验的理解，同时提出了一个全面的概念工具来指导未来道德体验的实证生物伦理学研究。