Le malattie rare: informazione e comunicazione nel patient journey

Abstract

Rare diseases are incurable genetic conditions that have a particularly low oc-curence. Patients with rare disease often experience significant obstacles to access to high quality healthcare. The analysis of literature emphasizes that it is important to promote studies on the social implications of rare diseases. This research project aims to identify the needs of patients with rare diseases for: 1) the knowledge they acquire through the media; 2) the relationship with the doctor and the hospital; 3) the relationship with the social networks. These three factors have been analyzed through the three most important steps of the patient journey: a) the pre-diagnosis stage; B) the stage of diagnosis; C) the post-diagnosis stage. The research was carried out on a sample of 17 participants, including 11 patients and 6 family members of patients, selected on a voluntary basis through the Rare Disease Desk of the Polyclinic Umberto I in Rome, and involving patients’ associations. What emerges from this research is that the patients with rare diseases have a double patient journey: a journey before diagnosis and a post-diagnosis journey. In the first one the family has the main role, in the second one the main role is of doctor and social networks.