JMIR Publications

ABSTRACT

Background:

Due to their low prevalence, rare diseases are poorly addressed in scientific literature and in clinical practice guidelines. Healthcare workers are thus inadequately equipped to provide timely diagnoses or appropriate treatment and support for these misunderstood conditions. These clinical tribulations are experienced as moral challenges by patients; they jeopardize their life trajectories, dreams, and aspirations.

Objective:

This article presents an ethics action plan for rare disease care and the process underlying its development.

Methods:

This action plan was designed through an ethical inquiry conducted with the Ethics and Rare Diseases Working Group, which included three patient partners, two clinician researchers, and a representative from Québec’s rare disease association.

Results:

The plan is structured in four components. Component A presents the key moral challenges encountered by patients, which are the lack of knowledge on rare diseases among healthcare workers, the problematic attitudes that it sometimes elicits, and the distress and powerlessness experienced by patients. Component B emphasizes a vision for patient partnership in rare disease care characterized by open-mindedness, empathy, respect, and support of patient autonomy from healthcare workers. Component C outlines two courses of action that are prompted by this vision, which are raising awareness among healthcare workers and empowering patients to better navigate their care. Component D compares several interventions that could help integrate these two courses of action in rare disease care.

Conclusions:

Overall, this action plan represents a toolbox providing a review of multiple possible interventions for policymakers, hospital managers, practitioners, researchers, and patient associations to critically reflect on key moral challenges experienced by rare disease patients and on ways to mitigate them. This article also prompts reflection about the values underlying rare disease care, patient experiences, and healthcare workers’ beliefs and behaviours. Healthcare workers and patients are the primary beneficiaries of this action plan.