Delayed diagnosis, misdiagnosis, and no cure or disease modifying treatments – children living with mitochondrial disease face all the issues often associated with rare diseases.
When Fabrizio Sottile went blind at the age of 17, he thought his dreams of becoming a world-class swimmer were over. But he wasn’t about to let Leber’s hereditary optic neuropathy (LHON) stand in his way, and he made his first appearance as part of Italy’s Paralympic team in 2016, aged 23.