Help us reach our family's $5000 goal!
Meet Ty and Paige
Ty and Paige Tuminello have been living with GAMT their entire lives, but their journeys have been very different. Ty was diagnosed at 10 months old after months of missed milestones and testing, while his younger sister, Paige, was diagnosed and treated immediately.
Today, Ty enjoys sports, snowboarding, and fishing, while Paige is thriving as a typical teenager. Despite their progress, treatment remains challenging, requiring nearly 100 pills a day and constant monitoring.
For families like the Tuminellos, continued research offers hope for better, easier treatments. Since 2012, ACD has led the fight against creatine deficiencies, and with 100% of Holiday Heroes donations going directly to research, your support helps us continue that fight.
Together, we can help bring Ty, Paige, and other families affected by GAMT closer to better treatments and, ultimately, a cure. Every donation brings us one step closer!
Your Holiday Heroes Donation Supports Research
UC Berkeley
1-year research award to accelerate the development of a novel method to deliver a key enzyme directly into cells to enable creatine production in individuals with GAMT deficiency.
Johns Hopkins University
2-year research investment to accelerate their work to deliver creatine to the brain, including to neurons, using dendrimer nanoparticles, without the need of a creatine transporter, to help patients with CTD.
Stanford University
2-year research award to build upon their work developing new ways to deliver creatine directly into cells without relying on the faulty transporter protein that causes CTD.
Ultragenyx
Investment in the clinical development of an investigational therapy for Creatine Transporter Deficiency (CTD) with a total commitment of $4 million as the program progresses.
Research Fellowship
Help us award our 6th year of research fellowships supporting 12 months of CCDS research for young researchers establishing their careers.
CTD Newborn Screening Research
Support assay development for CTD newborn screening technology enabling advocacy for early diagnosis of Creatine Transporter Deficiency.
