The latest news from PTC

Kailey, who lives in Louisiana with her boyfriend and two dogs, was diagnosed with Friedreich’s ataxia (FA) after years of concerning symptoms and multiple kinds of testing. She describes FA as feeling like your brain and body aren’t communicating. Despite the challenges of living with FA, she finds strength in the FA community and admires…

April is a California mom and Nana of three who was diagnosed with Huntington’s disease (HD) after learning her father carried the gene. For April, it was difficult to find, and afford, genetic testing, and receiving a positive result felt abrupt and isolating. After her diagnosis, she had to step away from the fast-paced Emergency…

Amanda, who lives with phenylketonuria (PKU), and her mom, Jill, share what it’s like to manage the condition every day. From navigating meals to preparing for situations that aren’t always PKU-friendly, Amanda describes the planning, resilience and determination it takes to stay on track – supported by family, friends and the PKU community. She also…

Tiffany, a mother of two who lives with Friedreich’s ataxia (FA), opens up about the challenges of navigating life with a physical disability while embracing her identity as a “whole person” – someone who is more than just her FA diagnoses. In these videos, she highlights the importance of community in overcoming obstacles and finding…

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…

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.