Living with and treating rare diseases: experiences of patients and professional health care providers

Abstract

We explored the experiences of illness of patients suffering from rare diseases and of the health professionals who care for them at the Center for the Interregional Coordination of Rare Diseases of Piedmont and Valle d'Aosta in Italy. The research was carried out between 2010 and 2011. We collected qualitative data from 22 patients and 12 health professional health care providers. The interviews were analyzed using the Colaizzi phenomenological approach. We identified five themes from the narratives of the patient participants--dealing with disease development, living with the disease, everyday living, relating to others, and relations with health care providers--and four themes from the professional health care participants--dealing with the disease, dealing with expectations, building relationships, and being operators in the context. The study has raised awareness about the issue of rare diseases and it provides some useful considerations for improving services.

Keywords: health care, long term; illness and disease; lived experience; phenomenology; qualitative analysis.