The challenges in treating rare diseases stem from their rarity, complexity, and the varying needs of different age groups. In Germany, care is mostly provided by specialists in outpatient settings. Cross-age care for children and adults is rare and typically occurs only in special cases. For example, patients with cystinosis are initially treated by pediatric nephrologists and later by adult nephrologists. At age 18, patients transition from pediatric to adult care, regardless of their development, often leading to a gap in interdisciplinary care, which is common in pediatrics but missing in adult medicine. Adult specialists often lack detailed knowledge of rare diseases, leaving patients to manage and coordinate their own care across multiple specialties.
During this transition, the brain undergoes significant changes, which may affect behavior, like increased risk-taking. For example, 40% of childhood kidney transplant recipients lose their donor kidney between ages 18 and 27, often due to a lack of disease understanding. To address these issues, a patient education program is being developed, aimed at patients and their families, starting from school age. It will also include parents of younger children and siblings. The training will be offered in person and supported by materials in various formats, including podcasts and videos, to suit patient and practitioner preferences.
Kooperationspartner
Sonja Froschauer (Cystinose Foundation Germany, Munich)