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Hi all...
I was diagnosed in 1993 with Becker--after EMG (09/07/1993) & muscle biopsy (09/24/1993) and many MDA visits beginning late 1992.
The EMG impression was a Myopathic syndromes, and suggestive of a neuropathic process as well.
This was all done in New Orleans .... and soon after I was transferred up north... I tried to put all of this in the back of my mind...knowing that I would continue to fall...have difficulty climbing stairs, getting up from a chair, and all the other daily challenges facing us...
In Jan. 2001 I was transferred to Houston and decided to contact MDA here for updates. Since that time I have again tried to become more knowledgeable about the disease. Under went more batteries of testing (EMG/EKG/biopsy) and genetic testing after current neurologist re-diagnose me with DM2.
The biopsy pointed towards DM2...the EMG pointed to DM2, but trying to get the genetic testing done has been a nightmare!
My primary care submitted the sample twice, to have the lab run the DM1 testing on it...
The neurologist upon learning this and that the primary care said he could/would no longer submit the sample for testing suggested having the hospital run the test.
Due to the expense, we waited until the following year (this year) to have it done. Guess what--the first time the results were negative for DM1... yes they ran the wrong test. The second time the results were negative for Limb Girdle...the third time results were returned this past week...negative for DM2...
...blood sugar is under control, no cataracts, just frustration...
And the latest from testing is ...
"I ordered just for myotonia congenita and paramyotonia congenita but they (TMH labs) sent for full myotonia panel and redid DM1 DM2 again.
The results are negative or normal for the former two conditions, which leaves us at a quandary given the presence of myotonia on your emg in the past.
The only other available possibility is that you have the DM3 form which has only been reported in one family. Again, I can contact researcher to research your blood for research and /or as Baylor Genetics to do research study on you genetics for new, undiscovered mutations."
Thanks for letting me vent.
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