As you know, our grandson, Benjamin, was born with a very rare genetic disorder called Creatine Transporter Deficiency. There are only a few hundred people in the US who have been diagnosed with CTD so far. He is a sweet little 5 1/2-year-old with a smile that will melt your heart, (it’s really true. I’m not just saying that as a proud grampa) but it’s been a challenge. He still doesn’t talk, is not potty trained, and didn’t start walking until he was 2 1/2.
Ben’s body is producing creatine which all cells require but without the transporter, it can’t get to the brain and muscles where it’s necessary for development. There is currently no cure for Ben, but he is taking two amino acids that may or may not help him.
At first, Jeff and Amy felt like they were stranded on an island in an uncharted sea but fortunately discovered a great support system through the Association for Creatine Deficiencies (ACD). This is the only patient advocacy group devoted to Cerebral Creatine Deficiency Syndromes (CCDS). It’s an all-volunteer organization whose mission is Advocacy, Education, and Research. The hope is to encourage early diagnosis to help other children in the future. Many children are either misdiagnosed or not diagnosed until they are an average age of 7 years.
Ben’s mom, Amy is a great writer and has written several articles to contribute to the support system that helps other parents. Here is a recent entry:
Will you please support my effort with a donation to ACD in the name of “Ben”? Dorothy and I will match your contribution up to $2000 so your donation can go twice as far. Donate HERE and choose “Ride For Ben” as the Donation Type. If there are questions I can answer, please don’t hesitate to contact me.
I’ll be posting photos and updates on Instagram. Follow me “@onabike”.
Thank you for your support and if you know someone with a baby who seems they may be missing some developmental milestones, please encourage them to ask their doctor about blood and urine screening for CCDS. Early detection and treatment are critical to avoid permanent brain damage.
Thank you for your interest and even if you choose not to contribute, we are very grateful for your emotional support.
Chuck and Dorothy