Help us reach our family's $5,000 goal!

Meet Angelo
From the very beginning, our journey with Angelo has been filled with love, but also with struggles and uncertainty that no parent can truly prepare for. We watched our little boy fall behind in nearly every area of development, knowing he needed help but not understanding why so many things were so difficult for him. We faced the heartbreak of unanswered questions, worrying about his future and wishing we knew how to give him what he needed. Then, a terrifying, severe seizure episode led us to his diagnosis of creatine transporter deficiency (CTD).
Finally having a name for what Angelo was facing brought answers, but it also marked the beginning of learning what this diagnosis would mean for our son and our family. Angelo works incredibly hard to learn language and communicate and to express his needs, share his thoughts, and connect with the people who love him. Every step forward, however small it may seem to someone else, means the world to us because we know how much effort is behind it. Life has not been easy for Angelo, yet he continues to greet it with a smile that brings joy to our family, even on our hardest days. He is so much more than his diagnosis. He is our son, deeply loved, with a personality, a voice, and a future worth fighting for.
Since 2012, ACD has led the fight against creatine deficiencies. With 100% of Holiday Heroes donations being directed to research, your participation in this campaign is crucial in helping ACD continue that fight.
By donating to this campaign in honor of Angelo and others living with CTD, you can help bring attention and support to families facing this difficult journey. Please consider giving whatever you can and sharing Angelo’s story. We cannot take every struggle away from him, but together, we can work toward a future with more possibilities for Angelo and children like him.
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.

