Abstract
Most rare diseases are poorly understood. Affected individuals struggle to be timely diagnosed and to access tailored, appropriate, and affordable care. Following pragmatist theory, individuals living with rare diseases may experience these obstacles as morally problematic situations, where they struggle with actualizing their cherished values amid their life circumstances. These embedded and contextualized lived episodes are distinct from moral challenges and moral issues, which are more abstract, decontextualized, and speculative moral matters. We sought to uncover the moral matters of adults living with rare diseases in the qualitative literature while elucidating the moral dimensions of morally problematic situations. Moral matters were extracted from 25 qualitative studies and subjected to thematic and interpretive analyses. The uncovered moral issues addressed abstract considerations relating to accessibility, limited knowledge, and unpredictability of illness manifestations. Moral challenges and morally problematic situations spanned across the four phases of the medical trajectory: the diagnostic odyssey, the diagnosis, clinical care and treatment, and medical follow-up. Moral challenges namely pertained to poor communication of diagnoses, lack of shared decision-making, and lack of holistic support. Morally problematic situations featured moral dimensions, namely (1) internal tensions (e.g., being misunderstood), (2) constraints to agency (e.g., powerlessness and disempowerment), in addition to (3) empowerment and self-advocacy strategies (e.g., being assertive and demanding), notably in episodes where support from clinicians lacked. This study highlights the usefulness of distinguishing these three types of moral matters in ethical analysis. It also shows how moral dimensions of morally problematic situations carry existential importance for affected individuals.
Keywords: rare diseases, pragmatism, morally problematic situations, moral challenges, moral issues, ethics