Our Story
Charlie's Diagnosis:
On August 22, 2019, our lives changed forever. That was the day we learned that our sweet Charlie has a rare genetic disease, so rare it doesn’t even have a name. It is known only by the affected gene: SLC6A1.
Since infancy, we had been searching for answers. Charlie experienced tremors, possible seizures (later confirmed), and delays in reaching almost every developmental milestone. Despite countless appointments and evaluations, we never imagined the diagnosis would be a condition with fewer than 500 known cases worldwide.
Children with SLC6A1 often face a wide range of challenges, including physical limitations, autism, intellectual disabilities, significant speech delays, behavioral issues, and debilitating epilepsy. Even with our growing concern, hearing a diagnosis with no FDA-approved treatment or cure was devastating.
But even in that moment of heartbreak, a path forward emerged.
Shortly after receiving Charlie’s diagnosis, we connected with Amber Freed, a mother who received the same news about her son Maxwell. Amber left her career to pursue answers, assembling a world-class team of scientists and clinicians who are dedicated to developing a gene-replacement therapy for SLC6A1. We joined forces immediately and together, we are fighting for a cure for Charlie, Maxwell, and every child living with this condition.
Every dollar raised supports this urgent work and brings us closer to the life-saving treatment our children desperately need.
Thank you for standing with us and giving Charlie the chance at the future he deserves.
Charlie's Battle:
Charlie is 8 years old—a bright, hilarious, curious little boy whose silliness fills every room he walks into. But behind his smile is a daily battle with cognitive delays, anxiety, autism, seizures, ADHD, and challenging behavioral episodes that often mask just how intelligent he truly is.
He also experiences abnormal movements and prolonged eye flutters, which we believe are tics. Thankfully, these have not yet limited his ability to learn new skills but we live in constant fear that as the disease progresses, that could change.
Still, Charlie fights. Every single day.
And we fight with him.
The endless love and support from friends and family carry us through the hardest moments and remind us that we are never alone in this journey.
We are confident that one day this disease will be only a footnote in Charlie’s story, not the defining chapter.
Thank you for helping us give our little boy the chance at the full, joyful, independent life he deserves.
Our Family
