“#MyGivingStory” – Chuck

This story was shared with #MyGivingStory in connection with the Giving Tuesday initiative. #MyGivingStory shares the stories of everyday heroes giving their time and talents to the charities they love.

Early on, my family and I noticed that our grandson, Ben, was not developing muscle tone at the same rate as his older brother. However, we made sure to remind ourselves that children develop at different rates. When Ben was one-year-old, we would hold him on our laps and he would not make any attempts to stand on his legs or make any verbal sounds. Aside from this, he was also developing scoliosis. Ben was put in a series of casts covering most of his torso for almost a year to straighten his spine, followed by another year wearing a back brace. He didn’t start walking until he was 2 1/2 years old but he still could not speak.

Through genome sequencing, it was discovered that Ben has a genetic defect. He has been diagnosed with Creatine Transporter Deficiency (CTD). What this means is that his body is creating creatine but he is missing the transporter necessary to get it to the brain cells and muscles for development due to a mutation of the transporter gene. There are three components necessary for normal development. The liver and kidneys each must create an enzyme (GAMT and AGAT) in order for creatine to be produced, and the transporter comes third. If any of the three parts are missing, the end result is the same. The first two deficiencies are treatable with oral supplementation of creatine, but tragically, are only effective with early diagnosis before permanent disability occurs, which is what has happened to Ben. After he had a diagnosis, we asked ourselves, “what’s next?” Fortunately, Ben’s parents discovered the Association for Creatine Deficiencies (ACD).

The ACD was founded in 2012 by a group of mothers with children who have Cerebral Creatine Deficiency Syndromes (CCDS). The ACD is a volunteer-based non-profit organization whose mission is to provide patient, family, and public education, to advocate for early diagnoses, and to promote and fund medical research for treatments and cures for CCDS. The ACD is also the only organization that is dedicated to the three CCDS.

During my personal routine appointments, my wife Dorothy and I mentioned Ben’s diagnosis to our doctors and we were surprised to learn that they were unaware of CCDS and that states don’t screen for creatine deficiencies on newborns. After learning this, I knew I wanted to do something to raise awareness of this little-known problem along with funds to support the ACD.

The idea came to me to do a solo bicycle ride from the Ohio River in Cincinnati to Lake Erie in Cleveland. This past June, Dorothy drove me down to Cincinnati and dropped me off at the river and I began my ride for Ben. Six days later, Dorothy drove to Cleveland and picked me up. During my 360-mile journey, I got wonderful support from family, friends, and the CCDS community. I also met a lot of generous people who were interested in hearing my story and provided emotional as well as financial support. There were many instances, but one that really touched my heart was when I met three trail volunteers who were mowing the lawn and clearing the path. They asked me, “What’s your story?” After I shared my story with them and why I was biking for Ben, they each pulled out their wallets and gave me donations for the ACD, which really meant a lot to me.

On my ride for Ben, there were days that I had to ride 70 or 80 miles which also happened to be some of the hottest and humid days of the year. There were also days where I wouldn’t see another person for hours and felt as though I was suffering, but I would think about the CCDS families and all the hardships they must be going through, and my bike ride was immediately put back into perspective for me. Throughout my ride, I made sure to post many photos and stories on social media and the ACD would share them all with the CCDS community.

Dorothy and I had decided that we wanted to match up to $2,000 of all donations made in support of my ride for Ben journey, and we are very pleased to announce that together we raised just over $5,500 for the ACD! We were very thankful for the amazing support of our community.

Ben is now six years old and is always running and jumping, smiling and laughing, and having a great time. Although he still lacks fine muscle control, is not yet potty trained, and still has no speech, we are all very proud of him, as well as very grateful for the work being done by the ACD.