Background Rare diseases are generally poorly understood from scientific and medical standpoints due, to their complexity and low prevalence. As a result, individuals living with rare diseases struggle to obtain timely diagnoses and suitable care. These clinical difficulties add to the physical and psychological impacts of living with chronic and often severe medical conditions. From the standpoint of pragmatist ethics, the morally problematic situations that adults living with rare diseases experience matter crucially. However, there is little known about these experiences.Methods (...) A survey study was conducted with 121 adults living with rare diseases in Québec, Canada, to identify morally problematic situations encountered in the healthcare system and everyday life as part of a participatory action research project. Morally problematic situations elicited internal tensions and constraints to agency.Results Adults living with rare diseases experienced morally problematic situations of stigmatization, disbelief, and sometimes abuse in the healthcare system. These situations were compounded by diagnostic delays, inadequate care, and suboptimal follow-up, and led some individuals to opt-out of medical care. In their personal lives, these individuals sometimes found themselves in situations of physical and financial dependency. They often also had to give up professional occupations, academic training, or life projects.Conclusions Adults living with rare diseases experience important morally problematic situations navigating the healthcare system and their everyday lives, some of which could be alleviated through interventions developed through future participatory action research. (shrink)

As a field, ethics is driven by the desire to help guide human life and human activities. Yet, what are the standards or guideposts indicating that a given policy or practice change actually contributes meaningfully to such desires and aspirations? In other words, how do we know if we have achieved meaningful ethical outcomes and enactment processes? Unfortunately, there are many examples of ethically oriented actions that were well intentioned but carried out in a way that undermined some of the (...) values they intended on promoting or led to unexpected undesirable outcomes. In this paper, building on an account of ethics as a pragmatist pursuit of deliberative wisdom, I identify and discuss four procedural guideposts which can help evaluate if a process of inquiry is an ethical one oriented toward human flourishing. First, situational awareness and continuity designates the need to keep in sight the nature of the situation at stake to ensure that the enactment process does not derail from a cardinal human flourishing orientation. Second, a meaningful ethical enactment should distribute opportunities for participation such that it is not only one’s autonomy (e.g., the ethicist) that is developed and exercised but that positive relationships are also fostered through the growth of others. Third, enactments must strive for more than simple avoidance of encroachment of wrongs but aim for the promotion of praiseworthy practices that pursue what is envisioned as being the better and most compelling vision. Fourth, an ethics process should be conducive of personal growth and mutual learning. (shrink)