As you know, Freddie has a rare, currently untreatable, genetic condition called Creatine Transporter Deficiency. There are only about 350 cases in the world—all children that will not lead a normal life. It’s been 21 years since CTD was discovered and the needle is finally starting to move on research.
Freddie was diagnosed with Creatine Transporter Deficiency just after his 2nd birthday. While he has come a long way since then and we are so proud of the strides he is making and the hurdles he has overcome, at five years old, Freddie still faces many long-term challenges with the additional diagnoses that come along with CTD including speech delay, intellectual disability and muscle weakness. We love and adore Freddie exactly the way he is yet we have hope for a better future for him thanks to the research efforts being led by ACD.
Initial fundraising efforts have been very successful, and donations continue to be needed moving forward for continuing progress on gene therapy and drug development research. Your support means so much to our family and the entire community of people affected by Cerebral Creatine Deficiency Syndromes!
Last year, our parent group raised $94k for Gene Therapy research and drug development. While this may seem like a lot, much more is needed to fund these expensive projects. This year, we are aiming to raise $250,000 to drive research for Cerebral Creatine Deficiency Syndromes in 2022. We know this is ambitious, but we are confident that we can achieve this goal with your help!
This holiday season, we invite you to give alongside us. Freddie needs heroes! Every little bit counts and makes a difference.
Happy and healthy holidays!