From pregnancy until about 5 years old, everything seemed normal with Jakeb. He hit all the developmental milestones when he should have. He joined all the little sports groups for soccer, football, basketball, and baseball, but he wasn’t too interested in them. He just didn’t seem to be good at them and we shrugged it off that he just wasn’t going to be an athlete. Not everyone can be an athlete.
We did notice that he loved to dance had a huge contagious personality. At the age of 7 we enrolled him into a beginners hip hop class and he quickly was asked to be in the competition hip hop group for ages 5-9. It was a great fit and he loved being on stage. Judges always commented on the huge stage presence that this little 7 year old had and other studios wanted to know “who that little guy with the big personality was?” In his second year of dance, he was still performing with the 5-9 hip hop group, but he also joined a trio boys hip hop group, as well as the studio’s production piece. He was dancing 3-4 hours a week from October 2014-May 2015.
During that time, we noticed that he was not getting better at the routines, in fact he was getting worse! In one dance, he had to slide across the floor and pop back up to a standing position. No matter how many times or hours he tried, he could not do that move. He needed some sort of assist to get up off the ground! Other moves also became harder for him to do. His dance teacher worked tirelessly with him and at one point, pulled us aside and said “we should probably get his nerves checked out because he is working much harder than he needs to on some of these moves.”
From that point and the year following, we tried to get an answer as to why our son was having a hard time moving and tripping all the time. Our family doctor wanted to check for muscular dystrophy and referred us to all these different specialists. That all came back negative so we were referred to a neurologist. Of course, she was booked for 3 months! Our appointment finally came in May 2016. The neurologist spent 2 hours examining Jakeb. At the end of the examination she asked us if we had ever heard of Charcot Marie Tooth (CMT)-which we hadn’t- and began to explain it to us. This diagnosis was confirmed the next day when he had EMG/NCV testing. Genetic testing was then ordered and on December 19, 2016 we found out that Jakeb had CMT4J.
Sadly, Jakeb does not compete in dance anymore, although he still busts out some moves if he hears a good song! He does receive physical therapy twice a week and was fitted for carbon fiber AFO’s in November. We are looking at a motorized scooter in the future and will be attending neuromuscular clinics every six months. Despite all this, Jakeb has handled everything exceptionally well! In fact, he is very quick to educate anyone on CMT and his leg braces!
Although we don’t know how fast this disease will progress, we are hopeful that a cure will be found and Jakeb can dance again!