The latest news from PTC

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…

For Sam, publishing his first book was nerve-wracking – it chronicled his Friedreich’s ataxia (FA) diagnosis and was therefore very personal. He wasn’t sure what people would think, but he was pleased with the positive reception of his book. Sam is a passionate writer and has since published five more books. In this video, Sam…

Alex, who lives with Friedreich’s ataxia (FA), encourages others in the FA community to get involved.

Evonne feels empowered by being an ambassador for Huntington's disease. 

Kurt shares his dedication to storytelling, encouraging others to find strength in their PKU journeys. 

Andrea lives with Friedreich’s ataxia (FA), a rare, genetic, and progressive neuromuscular disease that mainly affects the central nervous system and the heart. She has shared her story with PTC to help spread awareness about FA.  “My name is Andrea Garcia, and I was diagnosed with FA when I was five years old.  Around the…

Emma shares her story about living with PKU and her advice for others.

Pam and her daughter, Kelsey, live with phenylketonuria (PKU), a rare, inherited metabolic disease which affects the brain.

Laci shares what it was like to be a caregiver at a young age for someone with Huntington’s disease.

Londen shares her story as the mother & caregiver of Autumn, who has juvenile Huntington’s disease.