As First Lady, Eva Luise Köhler made a conscious decision in 2005 to dedicate herself to a topic that affects many but was rarely heard. “I did not want to support just one disease, but rather many—out of a sense of justice,” she says in retrospect. Her goal was to give voice to a young, barely known organization. Today, ACHSE, which started as a helpline initiative, is a key voice and major player in the field of rare diseases. This is largely thanks to the dedication of its members, as the patron emphasizes.
Eva Luise Köhler described how this commitment has evolved over two decades and what tasks now lie ahead at NAKSE 2025 in the conversation “20 Years of Voice for the Rare.” She spoke about achievements, current challenges, and her hopes for the future.
Safeguarding Progress, Shaping the Future
“We have clearly made advances in many areas,” she summarizes, “but we cannot afford to rest. What we’ve accomplished needs to be consolidated and further developed.” She identified a key task as ensuring sustainable care: While there are now 37 centers for rare diseases throughout Germany, their long-term funding is not guaranteed. The important work of the National Action Alliance NAMSE also lacks stable backing so far. Medical trainees also need to be more enthused about the topic and specifically supported through appropriate educational programs and clear career paths.
Furthermore, Eva Luise Köhler stressed the importance of better knowledge transfer: General practitioners and office-based specialists should be more sensitized to rare diseases or at least know where to refer patients for further clarification. Besides care, research is another central issue. Especially in the area of personalized medicine, there are tremendous opportunities, which should not pass by rare diseases. Solid registries are a crucial foundation for this. However, progress here has only just begun, and building them is hampered by high bureaucratic barriers.
Eva Luise Köhler finds it especially important that rare diseases are no longer treated as a marginal issue. Instead, they can serve as a blueprint for the future of medicine. “It’s encouraging that politics have now taken notice of the issue and rare diseases are mentioned in the coalition agreement. But now, words must be followed by action.”
A Call for Cooperation and Solidarity
Her appeal: “We need dialogue between everyone involved: patients, policymakers, science, industry, and society. And we must not forget those who still live without diagnosis or therapy. We must also stand in solidarity with them and help them live well with their disease.”
