Early diagnosis of a rare disease in children through better communication between parents, physicians and academic centers

The correct and early diagnosis of a rare disease in children is of particular importance in regard to the frequently fateful consequences for young families. Even well-known rare diseases are diagnosed with unacceptable delay in many countries. After decades of studying medical histories with delayed diagnoses and the respective literature, we describe the often severe aftereffects of a late diagnosis. We point out the underlying problems on the part of the physicians involved, of the affected families and of the health system in Germany, in particular with respect to the many emerging centers for rare diseases, most of which are associated with academic institutions. We gained the impression that the cause of delayed diagnoses is frequently not a lack of expertise or other resources, but inefficient communication between parents, practitioners and expert centers. We consider two approaches as promising and practicable: (1) strengthening the parents' competence and role in the dialogue with their doctors, an important element of which is obtaining written information on the state of the diagnostic process in language understandable to the parents; (2) definition of binding requirements for centers officially dedicated to the diagnosis of rare diseases and to research into unknown conditions. Many of our observations and deliberations in the pediatric field should be equally applicable to adults.