Yet they are not alone. If you include their families, that’s at least twelve million people — enough to fill 150 sold-out stadiums. It doesn’t have to be the background noise of a Bundesliga match, but we should make more of a noise. People with rare diseases deserve our attention, commitment and joint action. Because together, we are many.
Improving care together
Providing good care for patients is still a major challenge. Despite valuable approaches such as the National Action Plan and almost 40 specialised centres nationwide, care remains patchy. There is a lack of intelligent networking between outpatient and inpatient structures, and the digitalisation of the healthcare system, which is urgently needed, is also progressing too slowly.
Research is the key to innovation
There are more than 8,000 known rare diseases, yet research into most of them is scarce and fewer than five percent have a specific therapy. Nevertheless, research into rare diseases often drives fundamental innovations in medicine as a whole. Gene and cell therapies offer great potential, but the journey from basic research to approved therapy can be rocky. Targeted funding, accelerated approval procedures and better framework conditions for clinical trials are needed to bring urgently needed therapies to patients more quickly. A national patient registry would optimise care and facilitate research.
Earlier detection and better treatment
Diagnosis of a rare disease often takes years, sometimes decades — valuable time that costs quality of life and, all too often, lives. Expanding newborn screening and raising awareness among doctors could bring decisive progress here. We must utilise new diagnostic possibilities and further develop screening procedures to provide affected children and their families with a future through early diagnosis and treatment.
This is a task for society as a whole
Rare diseases affect us all: researchers, doctors, politicians and society as a whole. At the Eva Luise and Horst Köhler Foundation, we are dedicated to ensuring that those living with rare diseases receive the attention and support they deserve. We invite you to join this movement. Let us work together to create a future where rare diseases are not overlooked in the healthcare system, but are recognised as an opportunity for medical progress and social cohesion.
This text by Prof. Dr. Annette Grüters-Kieslich was published as an editorial in the magazine “Leben mit Seltenen Erkrankungen” in April 2025. You can find the entire issue here: Living with Rare Erkrankungen (German)
