Welcome to our fundraising page for Jack Parker (JP) Babcock as we raise money to find a cure for CTNNB1 using gene therapy. Jack is the third boy in our family and born with a rare genetic condition of CTNNB1 that causes a shortage of a vital protein beta-catenin needed for proper brain development.
Jack was born after a normal delivery with a small head size and after a few short months was showing signs of developmental delays. He had feeding difficulties, couldn’t sit up in his own, wasn’t talking, had sleeping issues and as his parents, we knew something was going on. We began the process of connecting with different specialists needed for Jack and after genetic testing, we found out JP has an extremely rare genetic neurodevelopmental disorder caused by pathogenic variants or mutations in the CTNNB1 gene. JP is one of 430 diagnosed individuals in the entire world! His condition was a “de novo” case, meaning that it was just a freak occurrence and not passed down hereditarily. The CTNNB1 gene provides instructions for making a protein called beta-catenin. This protein is present in many types of cells and tissues so the symptoms of CTNNB1 Syndrome are extensive and different in every case. One of the most challenging is mobility. We spend our days juggling our new normal: physical, occupational, and speech therapy appointments mixed in with doctor appointments, testing, and procedures. Jack has to work 5 times as hard as other children to achieve milestones months after his peers but he doesn’t let that get him down as he is the happiest baby! Jack belly laughs with joy daily and has a smile that will melt your heart. His future is uncertain and we don’t know if he will ever walk independently or talk like our other children and peers his own age. We have found a wonderful community with other CTNNB1 families and in that process have found hope that researchers at Tuft University are working on a cure. It may be years away but every penny counts. Clinical trials are an expensive process and no one can advocate for my boy like me!
JP is a well loved little boy and if you are interested in supporting us in his care, we would greatly appreciate it 🧬💛💙
