On the occasion of International Rare Disease Day on February 28, Stefan Schwartze MdB, Federal Government Commissioner for Patients’ Affairs, and the Eva Luise and Horst Köhler Foundation for People with Rare Diseases, advocate for clear guidelines in the care of affected individuals within the planned primary care system. Their shared conviction: A primary care system can provide real benefit for people with rare diseases—if it is properly designed and ensures reliable access to specialized expertise.
Rare diseases: High complexity, long paths to diagnosis
More than four million people in Germany are affected by rare diseases. Each disease is rare, yet together they form a significant area of healthcare. Diagnostics are often complex and made more difficult by nonspecific symptoms. It is not uncommon for years to pass before the correct diagnosis is made.
“General practitioners are often the first and a very important point of contact for people with rare diseases. They know the medical history, coordinate treatments, and enjoy great trust,” explains the Patients’ Commissioner. Especially with complex conditions, it is crucial that affected individuals have timely access to specialized expertise when needed. This point is also emphasized by Prof. Dr. Annette Grüters-Kieslich, Chairwoman of the Eva Luise and Horst Köhler Foundation for People with Rare Diseases: “Rare diseases rarely follow clear patterns. In case of persistent uncertainty, unusual symptoms, or lack of response to treatment, a referral to specialized care without bureaucratic hurdles must be reliably ensured.”
Both partners stress: People with rare diseases need a healthcare system that takes their distinct situations into account. This applies, for example, to the development of triage tools, which must factor in the particularities of rare diseases. A primary care system must both strengthen the competence of general practitioners and guarantee reliable access to specialized expertise. Such a network among healthcare providers could shorten diagnostic odysseys.
