Rohan is the goofiest kid you’ll ever meet. He loves music, books, high fives, and making friends. He adores his brothers, loves his cat Spocky (sometimes a bit too much), and his best friends are his many teachers and therapists. He works incredibly hard for every new skill he learns. He recently learned to read, which is amazing in so many ways. Whether it’s reading a few words, counting a little higher, or becoming more independent, every milestone is hard-earned.

When Rohan was diagnosed with Creatine Transporter Deficiency on June 13, 2017, we felt grief, relief, anger, and an unwavering determination to fight this with everything science has to offer. At the very least, we finally knew what we were fighting. Like many rare disease families, we found ourselves learning genetics, reading research papers, raising money, and connecting scientists who had never met each other. We became part of a community determined to build a future that didn’t yet exist.

As of July 2026, for the first time, there is real momentum toward a clinical trial. After years of work by families, researchers, clinicians, and partners around the world, we’re closer than ever to therapies that could change the future for children with CTD.

Our hope is simple.

We hope these treatments can give Rohan, and every child living with CTD, more opportunities to learn, communicate, and live as independently as possible. Every day without a seizure is a good day.
We also hope that someday, parents receiving this diagnosis won’t have to go through what we went through or spend years wondering what the future holds and whether help will ever come. We’re also working toward newborn screening so future families can receive answers much sooner.

If you’ve followed Rohan’s story, celebrated his milestones, donated, shared our mission, or simply believed alongside us, thank you. You have been part of this progress. I am humbled every time I look at the list of donors and recognize names, some are close friends, others are people I’ve only spoken with briefly, all of them helped get us here.

The Association for Creatine Deficiencies (ACD) was established in 2012, by parents of children diagnosed with Cerebral Creatine Deficiency Syndrome (CCDS) that decided a rare disease needs a unified community to affect change for the future. The ACD Board consists of unpaid CCDS parent professionals committed to this cause.

A Cure for Rohan