Civil society and rare diseases

Abstract

Rare diseases are often neglected from both health systems and research. The situation for patients and families is characterized by difficulties not only to receive adequate medical care, but also to get a necessary psychosocial support. However, remarkable positive changes are taking place, such as the growing presence of rare diseases as a group in national and international policies, the changing roles of patients, physicians and researchers and their mutual relations, increasing awareness and social involvement, greater opportunities for dissemination and awareness and the current favourable communications and technological environment. The complexity of these changes and the responsibilities that each group of stakeholders should take in this new framework is controversial and questions of an ethical nature are arising. These are often difficult to answer and the role adopted by the different agents can be explained by their pressing needs.