“Communication in rare diseases: A literature review for an empirical project”

According to the WHO a disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. In the EU, as many as 30 million people alone may be affected by one of over 6000 rare diseases existing. The 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative. The 50% of rare diseases touch children. One of the essential conditions for improving diagnosis and medical care in the field of rare diseases is the ability to provide and to disseminate accurate information as required by care givers and patients. More specifically rare disease patients experience is hindered in accessing high quality healthcare. These obstacles include but are not limited to: (i) lack of scientific knowledge of their disease, (ii) lack of access to correct diagnosis, (iii) delays in diagnosis, (iv) lack of appropriate multidisciplinary healthcare, (v) lack of quality information and support at the time of diagnosis, (vi) undue social consequences, (vii) inequities and difficulties in access to treatment, rehabilitation and care, (viii) dissatisfaction with and loss of confidence in medical and social services, (ix) denied treatment by health professionals and (x) lack of availability of orphan drugs (Kole, Faurisson 2010). The project aims at analyzing the role of communication in rare diseases along two main pillars: a)information; b) relationship between care gives /patients (or family members).