Czech toddler with rare genetic disorder recovering after treatment funded by public donations

Little Martin, a two-year-old Czech boy with a rare hereditary disorder, is currently recovering in a hospital in France after undergoing a revolutionary new gene therapy. His treatment was paid for by public donations of more than CZK 150 million.

With his little head of curly hair, two-year-old Martin looks like a cherub in a Renaissance painting. But he was born with a very human condition – an ultra-rare inherited disease called AADC deficiency. Patients with this disorder typically experience developmental delays, weak muscle tone and inability to control the movement of their limbs. It is a long-term, debilitating and life-threatening condition that can lead to multiple organ failure and ultimately death, even before the sufferer is 10 years old.

The disease typically manifests within the first year of life and can appear with different degrees of severity, but Thomas Roujeau, one of the French doctors who operated on Martin, told Radio Prague that he had a very severe form of the disease.

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Authors: Anna Fodor, Guillaume Narguet