I apologize for this vent by I must as you are all aware of the healing properties of venting...
My son has been diagnosed with DMD in March 2006. Then un-diagnosed early this year. We have no diagnoses but yet he has symptoms. They want to do another muscle biopsy but I resist. I can't let my boy go through another biopsy when there are so many other non-intrusive ways in finding it. What can they see now that they didn't see in 2006? We have all the lab results studying the muscle so the only thing I can think of is they did an error and are looking to redo. I would be pretty perturb to have my son go through another biopsy because someone made a mistake. I wonder why this happened? Are there people that have son's that have been clinically dx with DMD but cannot find there mutation using even the latest technologies? The kicker is that one type of muscle biopsy test shows DMD features (immunostaining) then another one says no DMD or BMD (Western Blot). Dr. Flanigan thinks the the DMD features is a secondary symptom caused by some underlying primary issue, possibly post transcriptional. We had to take him off of steroids because the Dr. thinks that would be best right now. He has no idea if steroids would help him or hurt him at this time. I'm hoping we did the right thing. So far it has been 3 weeks off of steroids and he seems to be maintaining his strength. He is having more cramping though it seems.
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