Gene Mutation: Deletion of exons 48-56
Every little detail about D-Day, or Diagnosis Day on May 25, 2012, will be forever etched into our minds. We noticed subtle things about his physical development—enlarged calves, didn’t walk until almost two years old, waddled when he ran—but individually, these things didn’t cause us much concern. We just chalked them up to late physical development. We would soon learn that each of these symptoms were indicative of a much more serious bigger picture. A friend saw Jack in my office one day and asked me to research Duchenne muscular dystrophy; a good friend of hers had a much older son with Duchenne. Admittedly, this is an odd statement to hear from a friend, right? After she mentioned the word "Duchenne" to me, I immediately Googled it and I knew. Jack had 5 of the 8 symptoms to look for. I vividly remember sitting in the doctor’s office with Jack, silently asking myself, "Is this really happening?" When the doctor confirmed our worst fears, I thought, "This is impossible. How could my perfect, beautiful, healthy boy possibly have THAT?" Enter Duchenne muscular dystrophy.
Receiving a diagnosis like Duchenne for your child stings like nothing you can imagine. One day, you wake up and all is normal, and by the end of the day—literally one conversation later—you know your child’s future has been completely rewritten into something you never expected or wanted. The clock starts ticking. Loudly. And from that point on, time becomes the enemy. Like most parents, we immediately launched into a non-stop, round-the-clock, insanely rabid, information-seeking effort to find anything and everything in this world that may stop the speeding train headed straight towards him, only to come to the mind-numbing realization that there is nothing.
It was then I decided I had to do something, ANYTHING, to fight Duchenne for him and every other child living with Duchenne. If Duchenne is the target, then raising money for research is my weapon. I left my 20-year career with the State of Ohio, sold our family home, paid off all our debt since we’d be living on just my husband’s income for a while, and launched Little Hercules Foundation on January 1, 2013. Since then, we’ve provided funding for 9 research projects, Jackson has participated in 2 clinical trials, and we’ve expanded Little Hercules Foundation’s mission to serve families through advocacy, awareness, research funding, and assistance.
Jack stopped walking at the age of 10, and uses a power wheelchair full time. He continues to lose arm strength, and we are constantly in a state of adjustment and acceptance. But, Jack is not a diagnosis. Jack is a son, a best friend, a brother, a cousin. All the things that make Jack unique—his crazy sense of humor, his overly-sensitive aversion to whispering, his ability to always know just when you need a hug—those things remain untouched by Duchenne. Jack’s love of all things Buckeyes and Cavs? Nope, Duchenne doesn't get to take that from him. And his smile that lights up every room he enters? Still there, for now and always.