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)!
Holiday Heroes 2024
Holiday Heroes is ACD’s year-end fundraiser and all funds raised are dedicated to research.
ACD has been promised a donation of $125,000 when $200,000 has been raised. This is will be ACD’s largest ever single donation and will be monumental for next year’s CCDS research! Your help will go farther this year than ever before!
Children with Creatine Deficiencies are severely impacted in their daily lives by:
- Seizures
- Lack of Speech
- Intellectual Disability
- Autism
- Behavioral Issues
- And more…
Your donation will fund research to change this!
ACD has some very promising research initiatives underway. Additional funding will expand these efforts and launch new projects, such as:
- The next phases of promising research projects (2 large projects began in 2024)
- New fellowship grants to early career researchers (5 were awarded in 2024)
- Creatine Deficiency Research Centers (multi-project CCDS research institutions; University of Utah was launched in 2023)
- New projects with a focus on therapeutic development (proposals under review)
Thank you for being a Holiday Hero!
We can’t do this without you. Please donate today to fund CCDS research.
Questions? Contact ACD.