In Europe, more than 30 million people live with a rare disease (affecting less than 1/2000 people), including around 3 million in France. A paradox must challenge us: nearly 70% of the 7,000 rare diseases identified begin in childhood but 80% of pediatric prescriptions are given off-label. Treatments are developed first, and sometimes exclusively, for adults.
For a long time, medicine relied on an implicit postulate: the child would be a miniature adult and it would be enough to “underdose”. However, a child’s metabolism, the maturation of his organs, his capacity to absorb or eliminate medications differ profoundly. In practice, 80% of medications have not been specifically evaluated or dosed for children. In rare diseases, where scientific knowledge is already limited, therapeutic uncertainty adds to diagnostic wandering (4.7 years in Europe according to Eurordis).
