The actual questions of the care of rare diseases

Abstract

The aim was to present the actual situation of rare diseases, especially to characterize the circumstances in Hungary. The most important developments were summarized which could help the care of rare disease patients in the everyday practice. There are around 800 000 patients with rare diseases in Hungary. The lack of information leads to "invisibility" for the health and social care system (most of them without ICD code). Therefore, these patients still have a huge disadvantage even when compared to the patients of common diseases. Important national and international measures took place in the last years to decrease these disadvantages. The Hungarian Centres of Expertise were officially approved, thus several health care providers were able to get membership in the forming European Reference Networks. The rare disease specific "Lifebelt" Information Centre and Help Line was established by HUFERDIS. These steps assist the implementation of the National Rare Disease Plan, although its formal approval process has temporarily stopped because of the reorganization of the health care system. The summarized developments can contribute to define better patient directions, and thus decrease the family knocks about the maze of health, social and educational systems. The realization of Rare Disease National Strategy is needed to improve the current fragmentation of services and enable patients and health, social and educational professionals to provide and use best practice care. This will ensure that all patients with rare disease cannot only be diagnosed quickly, but also have timely access to the care and support that they need, resulting in a decreasing burden of families and society. Orv Hetil. 2017; 158(47): 1851-1856.