Hello everyone. Our family has just entered the whirlwind of muscular dystrophy in the last couple of months. Our son who turns 7 today is being tested for Duchenne or Becker. We noticed in the last year that he was starting to struggle climbing our stairs to our 2nd story. Then recently the school Physical Ed teacher said that he is having issues keeping up with the other kids in his class. He tries to do everything but doesn't keep up.
So the school PT checked him and saw some weakness so suggested we go to doctor to make sure there isn't anything medically happening before she started working with him.
His CPK came back at 13,000 and he displayed muscle weakness in legs and some in arms. Onto neuromuscular specialist she did physical evaluation and believes he has a less severe duchenne or more severe Becker.
We are now waiting for genetics testing results and starting PT next week. I'm still in shock since we just assumed he was just dealing with weakness and never considered more since we have no history of muscular dystrophy in our families.
My son can walk long distances. He walked Magic Kingdom and Universal Studios just 2 months ago unassisted. He can go upstairs just at his comfort and speed, downstairs no issues, jumps not far off ground, pushes himself up off floor, used to be a tip toe walker younger but did grow out of it.
He does have large calves, sometimes trips and falls over the front of his shoe, shows signs of muscle weakness and doesn't run well. And with his high CPK they are highly sure it is Duchenne.
I apologize for such a wordy post. Just feeling overwhelmed. I've read most children are diagnosed between 3 and 5. Isn't 7 kind of old to be just showing signs? Has anyone else experienced similar issues at this age with their children?
Hi Dawn this is such a supportive community so great idea to reach out! It is a whirlwind at first. It's also completely normal to be hoping against hope that this is not what your son and your family are dealing with. One thing we've learned is that every boy responds differently even with the same gene mutation! An explanation for your son doing very well if B/DMD is his diagnosis could be that up until age 7, a substance called utrophin does much of the work of dystrophin. This, combined with the possibility of some dystrophin production could be why he's just showing signs now. The waiting is so tough but hang in there. Your son is still the same happy cool kid he was 2 months ago. :)
I'm sorry. I hope it isn't Duchenne , but from what you're saying it sounds like it. Your story is much like mine and I'm sure much like most in the community. My oldest, Jonah, did the same things i.e. slow up the steps, toe walk, calves, couldn't run fast like others his age, ... . Then he fell in the snow one day while I was shoveling and he could not get up. My point is that, he's been showing signs, we just ignore them or don't really know what we are looking at. Once again I'm sorry. There is a lot of support everywhere, please use it. It helps. My Jonah passed away at 13 and I have another son, Carter. He also has duchenne and is now 10. Enjoy everyday!
Anything I can do....answer questions..help in any way please don't hesitate. Bob Juedes Fond du Lac WI
I myself having a muscular dystrophy diagnosed at the age of 10 and now i am of 20 but not familiar to which type i am facing as my parents don't know much about it, but now i want to know which i am facing, i am under graduate now as software engineer , most effected part of mine is thigh muscle and upper arm muscle they are much thin even i can't walk or lift my hand in air, have not taken any medicine yet.