Written by Carole Sharp
“He’s going to be a pro football player.”
“He’ll grow into his calves.”
“He is perfectly healthy, it’s just growing pains, don’t worry.”
For six years this is what the various doctor’s we brought Ian to told us. We absolutely wanted to believe them but there was something just not right, so we continued to search.
A few days before Thanksgiving 2003 we brought Ian to a new pediatric orthopedic in our town who came from Children’s Hospital in Denver. He immediately ordered a blood test. We will never forget the look in his eye or the sound of his sigh.
On December 5, 2003 our oldest son Ian was diagnosed with Becker muscular dystrophy (BMD), at the age of 10. A devastating answer as to why his legs cramped when I, his mom, made him race in our local bike series with me, why he couldn’t get up easily when he fell skiing, why the many trips to the ER for falls at school or when we were camping. Why he just couldn’t keep up playing soccer, football, lacrosse or skiing, biking, hiking, running or climbing. You see, where we live Olympic athletes are many. Most kids can almost ski before they even walk. Athleticism was a big part of our world. And it still is, albeit different.
Ian received my mutated X-chromosome. I was a carrier. We had no family history of the disease. Thankfully our younger son Ty received my healthy X-chromosome. The X-chromosome is where the dystrophin gene comes from, moms provide their children with our genome’s largest muscle cell producing gene. Thus, there is a 50% chance their sons will be born with this terrible, terrible disease. Females have two X-chromosomes; males have one X-chromosome and one Y-chromosome. This is why, sadly, many families have multiple family members battling this tragic genetic disorder.
BMD is a less aggressive form of Duchenne muscular dystrophy, but just as terrifying and hopeless. Since the day Ian was diagnosed, the only race we would ever participate in was the race to cure his and so many other kids living with this awful rare disease.
We were already an extremely close family, but we now had an urgent mission to live life to its fullest and make every minute that much more special. Our perspective of life became much deeper and richer. We were thankful for Ian being only ten years old and diagnosed with Becker, the lesser evil. We had time, we had hope.
We immediately started a small nonprofit and have raised over 1 million dollars for research for a cure. For the last 4 years we have directly supported CRISPR gene editing technology specifically targeting muscular dystrophy. It was apparent to us that this was perhaps the only true future for BMD/DMD.
Seventeen years later and still no treatment, no cure.
We have come to understand the sad, sad truth and reality that keeping people, even children, sick, is big business. And rare diseases just don’t present enough need to push for therapies; the population is too small.
This past July we had a zoom meeting with Ian’s pediatric neurologist. He was updating us on his return to the muscular dystrophy arena, he had switched gears eight years ago and recently took a new position and was now working with the same lab we were supporting. He mentioned Rich and Terry Horgan and Cure Rare Disease.
Simply put Cure Rare Disease is remarkable.
We were all in, even if our Ian’s deletion/dystrophin output may preclude him from participating. Finally, there is true hope. We support CRD 100% and are extremely humbled and honored to be a part of its real-life superheroes; Terry, Caeden and Devin, Jonah and Emory, JB, Fritz, Sawyer and Wesley, Kate, Brayden, Kalel, William, Gus, Ned, Drew, Ben, Sam and Lydia, Isaac, Aaden, Max, Jared, Keellan, Rick, Agus, The Klassen Family, Rich and all the amazing, gifted and dedicated individuals that complete the Cure Rare Disease team.
We look forward to physically jumping for joy, actually hiking for hope and enjoying a wonderful long, long life of family, friends, love, laughter and no more rare disease.
Thank you Cure Rare Disease community!!