The day Eli had his first seizure is one we will never forget. He was 18-months-old. Our always joyful little boy went from happy to helpless in seconds. It was dreadful but also life-changing as it was the day that led us on a path to his diagnosis. After months of testing, we finally learned that Eli has a rare genetic disorder called Creatine Transporter Deficiency (CTD), which is one of three Cerebral Creatine Deficiency Syndromes (CCDS).
Creatine is essential for healthy muscle and brain development—without it, little Eli’s brain doesn’t get the creatine it needs to develop and function normally.
Currently, there are no treatments for CTD but the ACD is committed to making that change for Eli and hundreds of others just like him. The future is bright!
Thank you for donating on Eli’s behalf!