PERSPECTIVES ON THE IMPACT OF ROMANIAN PATIENT ORGANIZATIONS IN RARE ENDOCRINE DISEASES

Introduction. Rare diseases (RDs) are pathologies that affect a small number of people compared to the general population. In the literature we discover a general approach on rare diseases (RDs), most studies observing a single pathology or the whole spectrum. The current study follows a specialty-based approach of endocrine RDs. This study evaluates the ways in which patients and doctors relate to patient organizations (POs), including education and involvement in research activities. Methods. A questionnaire was applied between May 20th and June 30th 2020 to 66 endocrinologists and to 32 patients with a rare endocrine disease. Results. RDs cause significant burdens for patients and their families, especially from a mental health perspective. The most significant activities of POs for patients are provision of medical education, legal counsel, advocacy and policy-making, whilst doctors consider mental health support as the main role. While a majority of patients collaborate with organizations, only 11% of Romanian endocrinologists do so, the main cause being the insufficient knowledge about these structures. Patient involvement is considered by both groups to be needed in RDs research, but 69% of patients were never part of a research study due to lack of information. Conclusions. POs play a key role in the management of RDs and more physicians should be involved in their activities. Studies on larger groups should be conducted prior to coherent policy-making in this field.