Meet Sam & Louis
Sam and Louis are siblings in Utah that share a genetic disorder- GAMT. Sam was diagnosed at age 5 after years of therapies and misdiagnoses. Because of her late diagnosis, Sam is intellectually disabled and has epilepsy. Louis was diagnosed at birth, thanks to Sam! Louis loves hockey, baseball, video games, and is in a “typical” classroom. ACD is a 501c3 nonprofit founded to help other kiddos get diagnosed with GAMT early, educate clinicians and families on creatine deficiencies, and drive research to find better treatments for GAMT and AGAT and a treatment for CTD (currently not treatable)!