The latest news from PTC

Tracy, who lives with phenylketonuria (PKU), is a professional astrophysicist and works at NASA. In her opinion, living with PKU requires discipline to keep on top of managing the condition. “I often wonder if I didn’t have PKU, if I would be an astrophysicist,” Tracy says. “I know there is that little part of me…

Sarah Chamberlin, the mother of a child with phenylketonuria (PKU) and a passionate advocate, shares her journey of turning a challenging diagnosis into an opportunity to create meaningful change for the PKU community.  By channeling her skills into advocacy, she led the transformation of National PKU News to flok, an organization with the mission to…

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…

International PKU Day, led by E.S.PKU (European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria), a patient-driven umbrella organization representing PKU organizations across Europe, is on June 28. This year’s theme, Shades of PKU, seeks to highlight the diverse experiences of people living with PKU. The campaign underscores the complex reality of PKU, emphasizing that it’s…

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.