Social and welfare aspects of rare diseases

Comprehensive and systematic solving of the problems which are associated with rare diseases is one of the elements of the prevention of social exclusion of patients and their families. Rare diseases are a particular group of diseases distinguished, not because of the clinical symptoms, but because of the low frequency of occurrence of different disorders in populations, which leads to the common difficulty in gaining access to the right, broadly understood, medical care and appropriate forms of assistance and has a high risk of isolation, discrimination and stigmatization and social rejection and exclusion of patients and their families [1]. In addition, both in patients and their family members may appear psychological problems, such as the feeling of guilt and blaming themselves for the emergence of the disease and its consequences. We have to remember that most of these diseases are inherited autosomal recessive diseases, which should be carefully explained to both patients, their parents and families by a doctor, often a clinical genetician who would provide expert, medical information. Still most rare diseases cannot be cured by the cause and no effective pharmacological methods are available for their treatment. The quality of life of patients with rare diseases, like in the case of other heavy chronic diseases, is primarily determined by the scope of the broader support available to the patients and their families.