Quality of Life
The frequency of rare diseases is relatively low, but this is contrasted by a wide spectrum of diverse disease patterns. The symptoms of rare diseases may differ widely in terms of severity, and the course of a disease also varies significantly. Notably, several organs can be affected simultaneously. Therefore, the majority of rare diseases prove to be multi-system diseases.
Many family members, in particular, and especially social associates cannot imagine what a rare disease is or how it will progress. Navigating how to interact with the affected individual and how to offer them help in their daily life poses a special challenge. Therefore, specialists who can offer the patient information about the course of the disease and the available therapy options are a great source of support.
Access to Specialists, Therapy, and Support
Patients often wait for several years for a reliable diagnosis. Quite frequently, the patients are confronted with a series of false diagnoses due to the incorrect interpretation of their symptoms. Patients are then frequently dependent on a very small number of specialists. In many cases, access to specialists is rendered difficult by spatial distance; the patient may not be aware of the required expertise or the necessary specialized facilities; or these may not be easy to find.
Persons affected by rare diseases are frequently confronted with unsatisfactory therapy options or yet unapproved treatments. In many cases, suitable nursing measures can improve the patients‘ quality of life and also increase their life expectancy. Considerable progress has been made in the treatment of some diseases. This shows that research work is not in vain; energy and resources should be invested in the targeted research of rare diseases.
Patient organizations and self-help groups are invaluable for sharing experience among patients. Some patients may prefer more intensive exchange of experiences with others, while others may desire a closer doctor-patient relationship. The organizations provide care for the rare disease community while taking the patients‘ privacy into account.
The EU and International Networks
The development of ideas and solutions in the field of rare diseases requires an international network. Only by combining the know-how is it possible to define areas of action and introduce sustainable measures.
The EU regulation on drugs for the treatment of rare diseases came into force on January 22, 2000. Its purpose was to promote the research, development, and dissemination of medical products for rare diseases.
The rising number of orphan drugs (drugs that have been specifically developed for the treatment of rare diseases) shows that companies like AOP Health are actively and increasingly focusing on the field of rare diseases. About 20% of drugs approved in the EU every year are orphan drugs.
Sharing the existing expertise in specific disease patterns of rare diseases between specialized centers is of crucial Importance. The research and development of therapy options can also be improved and achieved more swiftly through these measures.