The article is devoted to the problem of ensuring the right to health protection and medical care, the organization and provision of medical care to children with rare (orphan) diseases are of great relevance today, due to increased attention to it not only in Russia, but throughout the world. This is mainly due to the high level of economic and social burden of rare diseases. Orphan diseases include congenital (hereditary) or acquired diseases, the frequency of which in the country and the world does not exceed a certain number established by the laws of various countries. The low incidence of rare (orphan) diseases leads to difficulties in obtaining useful, reliable and timely information about the pathology; the correctness of the diagnosis; lack of adequate dispensary observation; limiting budgetary allocations for the development of orphan drugs and, as a result, the timely receipt of timely and appropriate treatment by people suffering from rare (orphan) diseases.