Each night without fail, I wake up to waves of panic washing over me - panic over watching my precious 9-year-old son, Jake, deteriorate each day and my complete inability to do anything about it. Jake is following the typical progression of Duchenne. He has always struggled with his physical abilities, fatigue and inability to keep up with his peers. Over the past year, we've seen a definite decline in his overall strength. He's having much more difficulty with stairs, frequently falls and oftentimes cannot get off the floor on his own. Due to his increasing fatigue, he's often ready to get in bed by 6:00 in the evenings. In addition to his growing physical challenges, he has always struggled emotionally with frustration and sometimes anger, due to the steroids he takes daily. He is the sweetest boy in the world, but dealing with these difficult behavioral issues takes a huge toll on him and our entire family.
We've felt fortunate that Jake's genetic mutation is amenable to exon skipping 53, and since he was diagnosed, we've been clinging to the hope that this might become available in time to help him. However, due to the speed at which he is progressing and the delays we are seeing with trials, we fear the strength, skills and independence he could lose before that time. We, like all other parents of Duchenne boys (and girls) are more than willing to take on the risk of a potential therapy if there's a possibility it could help our children.
The clock is ticking LOUDLY, and we pray you will work with us in the most efficient manner possible to get these promising treatments to our boys. Our children are counting on us.