Rare Diseases: Perspectives for Better Care Discussed in Berlin
Experts convened in Berlin to discuss pathways for faster diagnosis and improved care for individuals with rare diseases. The forum highlighted the need for genetic testing and specialized treatment centers.
At a health forum in Berlin, experts discussed strategies to accelerate diagnosis and enhance care structures for rare diseases. An estimated four million people in Germany are affected by one of the approximately 6,000 to 8,000 known rare conditions.
The forum emphasized the critical importance of timely diagnosis. Miriam Lockhorn, a board member of ELA Deutschland, shared her experience after her son was diagnosed with a rare leukodystrophy following a five-year diagnostic journey. She described the relief and clarity that a diagnosis brought to her family, who had faced numerous misdiagnoses and prolonged uncertainty.
Pediatrician Dr. Steffi Dreha-Kulaczewski noted the diagnostic challenges posed by the wide spectrum of symptoms associated with rare diseases. She advocated for increased access to genetic testing and greater support for specialized, interdisciplinary treatment centers. Germany currently has 39 such centers, but they are operating at their limits and require expansion.
Discussions also addressed the need for support structures for affected families, providing them with a "breather" from the immense burden of care. Research into genetic therapies, such as gene therapy, offers future hope, though widespread accessibility remains a distant goal.