Day of rare diseases: visibility for unknown hero

Day of rare diseases: visibility for unknown hero

Laimgrubengasse 10, 1060 Wien, Österreich - On February 28, 2025, the international day of rare diseases will be celebrated, which draws attention to the challenges and needs of patients with rare diseases. According to the information from ots.at Life in Austria about half a million people with such a disease, and over 20,000 of them have a muscle disease. These diseases, which are often diagnosed in childhood, are usually not curable and force those affected to take care of a lifetime.

The urgency of early diagnosis is from Univ.-Prof. Dr. Günther Bernert, President of Austrian muscle research. He explains: "The earlier parents go to a neurologically specialized pediatrician or a muscle special ambulance if they are suspected of muscle disease, the faster can be started with individual care." In many cases, the diagnosis leads to a progressive loss of mobility, and early intervention can make a decisive contribution to slowing down the course of the disease and improving the quality of life of those affected. According to dgm.org , muscle loss and muscle weakness are common symptoms of these neuromuscular diseases that are due to a variety of causes.

CASEMANAGE as valuable support

For many affected people and their relatives, life with a muscle disease is a great challenge. Mothers become full -time nurse, which presents them with enormous organizational hurdles. Dietlind lifting dispute, chairwoman of the Marathon Association, a self -help group for muscle people in Austria, demands targeted case management: "Almost nobody knows the health system's jungle properly. Casema management that offers the affected families orientation and support." This case management could help improve coordination between different medical specialists and reduce the administrative challenges.

Despite the necessity and the announced pilot projects for the implementation of such casema management, financing in the Austrian health system remains unclear. Hebestreit indicates that the corresponding rights granted the case managers and that they have to be actively supported in order to be successful in their role. "The implementation and financing of case management for people with a muscle disease is just as important as the use of new innovative medication," concludes Bernert, which underlines the urgency of efficient care for these vulnerable patient groups.