Kevin,

I was wondering if you wouldmnd answering a few questions that I  have about my son, Nicholas, Age 6.  I know that you are a realtivily mild BMD, and it is believed that my son will be as well.  You had told me last year something about the test results regarding Athena Labs.  Nicholas muscle biopsy report from them reading dystrophin was that the size and amount was in the "Normal" range, greater than 50% and the size was normal as well and on his report it stated that it was not belived that this patient has muscular dystrophy. Now, the pathology report was a bit different, noting a few changes but said it is "believed" that this patient has a milder disease consistent with BMD. It went through all the other things that they were checking for and all those were normal leading them to the BMD diagnosis. I did talk with a genetic counselor through PPMD, she called me, and I discussed this with her as well as fax his reports, she said we could do one other genetic test, but they felt we had all the answers we were going to get and that it would be a waste of money.  I am curious as to what you learned from your test at Athena Lab and what you went onto do after that test.

As I stated, Nicholas is 6 years old, all tests, pulmonary, cardiac, mri are perfect at this time, showing no change or problems. The only thing that is happening with nicholas is that when he is running around playing outside his legs cramp, usually one over the other (right side usually) he says they hurt and feel tired. Then he usually walks stiff legged on the side that is bothering him most. When he sits and rests a few minutes he can get back up and run around until it does it again, but again, that is the only thing that is happening with him. It was suggested to start using CoQ10. Wondering if that will make a difference. We are getting ready to try it, worth a try anyways.

He also was just diagnosed with Pectus excavatum. This is a deformity in the breastbone on the chest where it grows inward instead of flat. This is a wait and see to see how bad it may get but usally doesn't start showing until puberty when their is rapid growth.  Wondering if this is b/c of the BMD.

Thanks for any insight you can give me!

Hi Stacy,
      I know that I'm not Kevin, but I wanted to let you know that my son Brandon has the same issues on the playground and when playing sports.  He starts out fine then after running he cramps up and then by the time we leave the field or playground he walks very stiff and sometimes he can't even get into the van without help. This all started right around 3 yrs old, he is now 8 yrs old and the same thing happens still. The only difference is that he now knows to stop and rest and get something to drink ( usually gatorade), which means we stay longer where ever we are. Brandon had genetic testing which showed that he has BMD but same as your son, Brandon's muscle biopsy showed no major results, the doctor's were not even sure of what he had at first. They just said that the would put MD in his testing to rule it out. Well they did not. And on from there, now 1 1/2 yrs later, we try to take it day to day and stay positive. I wish the best of luck and hopefully you get answers soon. :)
Sherri

I remember when I was that age, I could run (Slower than the other kids mind you), play sports, and walk up stairs just fine.  BMD generally starts affecting you around your 20's.  My only advice - Your son(s) have to start becoming aware if their muscles are becoming tired to rest.  If they don't they will over stress their muscles and that can be damaging.  They'll probably fine for a long while, but as I said functionally they will start noticing a difference around their 20s.  I never had any craps though, but if I'm on my feet for a long time I defiantly get stiffer.

Hey NicksMommy

Sorry for the delayed response. I've been travelling continuously for several weeks and haven't checked-in until now. I would ask this question to all the BMDrs out there too. As you have seen they are good about sharing similar stories or advice.

I'm probably not a good case to use as an example, since I wasn't diagnosed until I was 35. The only real symptoms I had as an adult were heart related, that is why it took so long to figure out what was wrong with me.

Looking back, as a child, the only signs that I had were large calves. I played soccer as a kid and was even recruited to play competitively. When I played soccer, my calves would cramp up near half time, so I always had a leg massage and some gatorade at halftime...then I was good to go for the second half. I didn't have any other symptoms until my mid 20s.

My muscle testing shows a 'normal' size dystrophin protein (very hard to measure accurately), but only 30% of the normal amount of the protein. However, these measures are not a reliable predictor of anything, since there is high variation of these numbers between BMD folks and they do not necessarily corrolate to severity.

Hope this was helpful. You can contact me via email if you have more specific questions.

Kevin

Hi NicksMommy - I was diagnosed with BMD about 30 years ago when I was in my mid-20s.

As a child of from about age 5 or 6 I recall the same calf pain. I never played sports but would get a bad cramp (usually my right calf) that would bring me to tears from just walking or running. After resting for a few minutes I could continue to walk.

I can't remember when the muscle cramps ended (maybe some time during high school) but occasionally I still get the odd pain, especially if I overexert myself.

At 54 I'm having a similar pain in my upper arms. I've assumed it is a result of my muscle deterioration.

Gord