Simone was diagnosed with aromatic L-amino acid decarboxylase (AADC) deficiency when he was 12 months old. AADC deficiency is a rare, life-limiting genetic disorder that can cause severe disability from the first months of life and can impact the entire family.
For Simone’s parents, Sabrina and Sebastiano, the path to getting the diagnosis was difficult and distressing – Simone was exhibiting uncommon behaviors like rigidity in his arms, hypotonia and episodes of involuntary eye movements, known as oculogyric crisis. The family was determined to find answers.
Learn more about the family’s incredible journey: