Just wondering before you got the DNA blood test to confirm Kennedy's..
Did you have clinical weakness on clinical exam?
What made your dr or specialist suspect Kennedy's?
Trent, my cpk was the initial indicator. From there I had the emg and a few other tests. After all the tests came back, my neurologist recommended I see a specialist in KD at the University of PA. It just happened to be Dr. Fischbeck (before he moved to NIH). As soon as I walked into his office he announced that I had KD (my walk gave it away). I then had the DNA test and it confirmed it.
Thanks so much for your reply, I have a few questions if you don't mind me asking..
Did they find signs on your EMG that made them want to dig further? Or was your EMG clean?
Is a clean clinical exam from a neurologist a good sign?
I have normal CPK, normal clinical strength exam, normal EMG and no family history of kennedys..
Yet I do have a lot of symptoms, do you feel u should listen to my neurologist? And judging by all my clean tests would it be highly unlikely that i have it?
Thank you for sharing and helping with support.
It was quite apparent that there were connectivity issues with the EMG. The neurologist also found some issues while performing his physical exam. I was in the 40s at the time. When I was in my early 30s I was originally diagnosed with ALS.
Symptoms can begin to surface as early as the late teens or as late as the 60s. For me, my CAG Repeats were in the mid-50s. I began experiencing noticeable symptoms in the late 20s and early 30s. At the time I didn't recognize any of them as potential issues or a warning flag.
Hi Trent, I was diagnosed at 60 after several years of problems only because my younger brother several thousand miles away was diagnosed. I had seen three separate neurologists and none could find anything on my tests. I participated in the exercise trial at NIH, and when I took their findings to my latest local neurologist he was surprised at the level of detail, stating that he got bigger changes in levels just by cleaning his probes. Needless to say I have little respect for some neurologists. My initial diagnostic test started with a form I downloaded from the Baylor website, had my doctor sign and I paid for the blood test myself. Confirmation in ten days; I then went through all the usual hoops to have the system confirm the diagnosis, it only took them three months.
Kennedy's Disease Association
PO Box 1105 Coarsegold CA 93614