The latest news from PTC

This International PKU Day, the European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria (E.S.PKU) is shining a light on as an aspect of PKU that is often left in the shadows: mental health. Through their “Traces of PKU” campaign, they are creating space for honest conversations about the stress, stigma, isolation and emotional weight that can come with living with PKU. They aim to bring the “invisible…

On May 20, we recognize International Clinical Trials Day: a time to honor everyone who makes clinical research possible, especially the people living with rare diseases who choose to participate in clinical studies. For the rare disease community, clinical trials are more than a scientific milestone. They can mean extra appointments, travel, tests, and uncertainty –…

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…

According to EURORDIS, the Rare Disease Day 2026 theme, “More than you can imagine”, reminds us that “rare diseases touch more lives, involve more conditions, and require more action than most people realize.”   In recognition of this powerful global campaign, PTC honors the phenylketonuria (PKU) community by amplifying voices from across the globe. Together, we can raise our voices to shed light on the realities of living with…

In rare disease, progress starts with listening. Rare Disease Day is an opportunity to recognize the millions of people worldwide living with rare conditions — and to reflect on what it truly means to support them. At PTC, support and meaningful impact begins by listening to the people who live this reality every day. It’s those who are…

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…