JACK

When you think of big muscles you usually assume that person must be strong. With Duchenne Muscular Dystrophy the opposite is true as the large muscles are actually a sign of their muscles getting weaker. One family affected by the condition shared their experience with us.

"Jack was diagnosed with Duchenne Muscular Dystrophy in 2015 when he was just 2 years old. It’s a rare, muscle-wasting condition that mainly affects boys and so he’ll gradually begin to lose all of the skills that we’ve watched him gain. He will likely be in a wheelchair by the time that he is 12 and finally all his muscles will deteriorate; his life expectancy is in his early 20’s”.

“He walked at the age he should have done, and he could sit up. We just noticed that when he was trying to get upstairs he was very tired, it felt like a big effort for him, and he was getting fatigued quite quickly. We also noticed that he wasn’t really using his quad muscles in the same way that his cousin was so when he was getting up from the floor it was much more of an effort. We thought he might need a bit of physio or have a vitamin deficiency, so we went to the doctors to explore further and then we were sent for a blood test.

We had a blood test done and his CK levels were elevated so we had a call at 7am in the morning from a duty doctor at the hospital, it was completely out of the blue. He said that Jack had got raised CK levels, but we didn’t know what that meant. He said that it might be a form of muscular dystrophy, so then we started googling and our minds were going everywhere. We came across Duchenne muscular dystrophy and just hoped it wasn’t that one because that’s the worst form of muscular dystrophy that there is. It’s life limiting and fatal”.

“To the outsider he looks like a normal child, a healthy child, even his calf muscles are big but that’s actually because the muscles are deteriorating and are being replaced by fat - a symbol of Duchenne. He looks healthy but that’s the heartbreaking thing because at the end of the day, he’s dying and his muscles are wasting away. It’s hard for his own friends to try and understand that he can’t do some of the things that they can, that he’s limited in his physical ability. It’s been particularly hard for us as parents during his whole diagnosis, but the hardest is yet to come when it starts to impact upon him, his emotions and how he’s feeling about it all. That’s another thing that we have to face and dread.”    

“We try not to think to the future. You have to live every day because looking ahead is just too scary, it’s too unbearable. You want to press a pause button, more so than any parent, because you dread what the future holds if this disease continues. Not just for us, it’s about the impact on him, his friendships and him feeling different. We used to look forward in life, racing to the next event but now it’s hard to look forward to anything. We just have to keep ourselves positive. You do value every second and moment, every photo, every experience because you know that you’re on borrowed time.

These boys are dying; year on year, generation after generation and they need a better quality of life and a longer life. No parent should have to see their own child die or wilt away before their eyes, and there is clinical evidence and research out there, there is hope and hope is all we’ve got at the moment.”