About the problem of patients with orphan diseases

The most important problems of diagnosis, therapy, social assistance and the search for solutions to these problems of patients with orphan diseases discussed in the article. In December 2020, we searched for publications using the Google Scholar search system, the time range of search from 2000 to 2020 for the keywords: orphan diseases (in Russian and English). Considering the purpose of the article, 32 sources were selected. The main difficulties of orphan diseases are shown: lack of quality information, as well as confirmed knowledge about these diseases; delay in diagnostic data; difficulties with the selection of a competent specialist; problems of getting a disability; inaccessibility of social assistance; psychological problems: patients with rare diseases and their families burden their condition with despair and fear.