We Are Ready For a Cure

Dear Friends and Family,

We’re writing to you with an update and to ask for your help. If you’re receiving this, it’s because you care about us, care about someone who loves us, or–in some way–you are part of the circle that surrounds our sweet 4-year-old son, Kelly III.

Kelly III is pure joy. He is curious, affectionate, determined, and endlessly brave. He works harder than most of us ever will, just to do the things that come naturally to other children. Every step, every sound, every small milestone is a victory we celebrate deeply. But along the way, we have known something wasn’t quite right, and we’ve been searching for answers since he was very little.

In December 2025, we finally found one.

Kelly was diagnosed with Creatine Transporter Deficiency (CTD), an extremely rare genetic disorder that impacts brain development. His body produces the creatine his brain needs—just like yours and mine—but due to a mutation in a critical gene, that creatine can’t reach his brain. Without it, his cognition, speech, and development are profoundly affected. Every day his brain is starved of the energy it needs to grow and function. Kelly has a rare brain disease. That disease has no cure.

Yet.

There is a promising drug that was developed specifically to treat CTD. In preclinical studies, it performed extremely well. The science is real. The potential is real. But because CTD is so rare, the drug was deprioritized due to the cost and complexity of moving it into clinical trials. Not because it doesn’t work. Not because it doesn’t matter. But because rare diseases often don’t have enough voices.

We’re determined to change that—for Kelly III and every family affected by CTD.

We are partnering with the Association for Creatine Deficiencies (ACD), a 501(c)(3) nonprofit that supports families like ours, funds research, and advocates for treatment of creatine deficiency disorders. Together, we are raising money to help push this drug into clinical trials, potentially as early as this summer. The total cost is $8 million, and our family’s goal is to raise $800,000—10% of what is needed to give this drug its chance.

There is real optimism, not only for children like Kelly, but also that this research could eventually help with other neurodegenerative diseases like ALS, Parkinson’s and Alzheimer’s.

This is not just about Kelly. But it is deeply, personally about him.

Every dollar raised will go directly to advancing research and development for a cure for CTD. Truly, every gift matters, no matter the size. Every gift is a vote of confidence in Kelly’s future and in children like him who deserve more than “there’s nothing we can do.”

Thank you for loving our son. Thank you for standing with our family. And thank you for helping turn hope into action.

More Ways to Donate

Mail a check to
Association for Creatine Deficiencies
6965 El Camino Real, Suite 105-598
Carlsbad, CA 92009
Please write “Johnston Family” in the memo line.

Donate stock
Please contact ACD at info@creatineinfo.org directly for details.

Understanding Creatine Transporter Deficiency (CTD)

Join us in the fight to cure creatine deficiencies.

For hundreds of children around the world living with a cerebral creatine deficiency, every day is unpredictable.

These rare genetic disorders disrupt the brain’s ability to process or transport creatine, a vital molecule for energy, especially in the brain and muscles. As a result, children may face developmental delays, speech and motor challenges, seizures, behavioral differences, and frequent medical interventions.

There is hope on the horizon!

In some forms of the condition, early intervention with supplementation has led to dramatically better outcomes. Though CTD remains without a proven cure today, early studies and emerging research are illuminating a path forward. Your support can accelerate that journey.