Behind every diagnosis, there is a family. A child who laughs, plays, and grows at their own pace. Parents who searched for answers, often for years, before finally hearing the words “TAOK1-related disorder” for the very first time. On this page, we share the real stories of children and families from around the world who live with a mutation in the TAOK1 gene — their journeys, their challenges, and above all, their everyday moments of joy, progress, and hope.
We share these stories for two reasons. If you are a parent who has just received a diagnosis, we want you to know one thing: you are not alone. Someone, somewhere, has walked this road before you — and they are here, ready to welcome you into our community. And if you are a doctor, researcher, or simply a curious visitor, we hope these stories help you see beyond the medical terminology and meet the wonderful children behind it. This is who we fight for, every single day.
