I have never been patient and these last 3 weeks have been full of anxiety. Still have another 3 to 5 weeks for genetic testing to come in.

My son started PT and so far that is going well. He is doing good with the exercises and stretches. The PT said most of his issues are caused by his lack of ankle flexibility. He is getting hinged day AFO's and night splints. He has even learned how to stand up without putting his one hand on his thigh to straighten his back.

We will continue to bring him to his weekly PT and work with him at home. Are there any other doctor's I should bring him to that may be able to run other tests on him in the meantime that can narrow his diagnosis down? We don't have history of Duchenne in our family. He had some symptoms like his leg muscle weakness and ankle contracture but he doesn't walk on his tip toes and the gower is being corrected with PT.

Sorry to go on but still trying to wrap my brain around this.

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Its so hard waiting, I know when I had the CVS I was waiting longer then expected and it was torture. Have you taken him to neurologist or MD clinic?

Wishing you all the best Dawn.  Hang in there.

He's at a pediatric neurologist who runs a neuromuscular clinic with MDA backing.

Thats all we did was PT meet with Neurologist.

My son was diagnosed a couple months ago and I can relate that the waiting is really hard. We didn't even find out with the first test and had to wait longer for round two of the genetic test looking for smaller mutations. (about 6 months from the time of his first elevated cpk) Its so tough but try to just focus on today and enjoy every moment with your son. Sending you peace. Do things that you like (take a walk, talk to a friend etc) Anything to take your mind off of it. It's so tough and I get it.

I'm assuming he had an elevated CPK?

Is it a multidisciplinary clinic that you've been seen at?  If not, and your insurance covers it, or you have the financial means, you may want to get an appointment at one of the larger, multidisciplinary clinics.  If it is duchenne or becker, you'll probably want to do that eventually, if you're able.  It can take months to get an appointment at some of them, so you might consider getting something set up now.

 

Keith we are at one I believe. It is a neuromuscular clinic backed by the MDA. Yes high CPK but still not totally on board until we get genetics testing results.
Wondering if your doctor's have had the 6 minute walk done for your kids? And how that helps in diagnosis.
Dawn - I didn't realize you were in the Detroit area. That's where I am. If you'd like to connect by phone, send me a private message and I'll give you my number.

Unfortunately, being an mda clinic doesn't mean much in terms of quality of care. It may or may not be a multidisciplinary clinic. We've been to all the clinics in the area, I can relate my experience.

My son was diagnosed 7 years ago. 6MWT was not part of the diagnosis. He's only done it twice. Once at my request, and another as part of a study.

The waiting is terrible. We called it the lost summer.

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