Abstract
Wolfram Syndrome (WS) is a rare disease (RD) with an estimated prevalence of 1/770,000 inhabitants. It is considered a multisystemic, chronic and progressive disease.WS diagnosis implies devastating consequences at physical, educational and emotional levels. WS is also known by the acronym DIDMOAD, derived from the first letters of the main clinical symptoms: Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness. Rare diseases are characterized by their low prevalence and the lack of knowledge on the pathophysiology and treatment of them. Interestingly, around 80% of RD have a genetic basis, and this fact causes doubts and uncertainties in the couples, about the idea of having another child. The existence of a RD in a family, alters significantly the relationships and the quality of life within the family. The present work remarks the huge value of psychosocial aspects in order to pay an adequate attention to these patients, not only taking care of the clinical aspects. The main purpose of this study has been to ascertain the quality of life of Wolfram’s syndrome affected patients, and its impact in the daily life.