Well, I finally called the neurologist to see if my second Athena results were in. I was routed into an automated system and finally got a person who asked me my name. She was eating I think at the time because she was smacking her lips. She said my results were normal. I asked if she was looking at the latest test and she said she was looking at the ones they ordered. Before I could ask her how many repeats were on Chromosome 34, and remind her that they ordered both tests (the first was declared normal) she said Normal again and I repeated it. Then she hung up on me.
That was it.
All she wrote.
What do I do now? I'm actually getting a referral from a physician friend for a neurological specialist at Wayne State because I was told the clinic I was going to specialized in migraines. Well, that they can treat because I have one now :-)
I'm going after a second opinion, but right now I'm cranky, sad, and depressed. The only other symptoms I have would be ALS. However, those are only spotty. Could they have made a mistake? Could they have mis-read or given me inaccurate info?
What should I do?
You are doing the right thing by getting a second opinion. Hang in there (easy to say, tough to do) until you can get to the right neurologist. Check the website for a list of neurologists familiar with KD; it makes a big difference if the Doctor has seen it before.
Thanks for the support. After a few days of calming down, I realize that I do need a specialist to interpret the results.
Finding a doctor that is familiar with KD is difficult. The DNA blood test for KD is the only way to go today. I had the muscle biopsy and several other tests before I finally saw Dr. Fischbeck (at that time at the U of PA). He immediately said I had KD, but wanted to confirm it with the blood test. The blood can be drawn by any doctor and then sent to a qualified lab (there is a list on the KDA website). Good luck.
Location: San Luis Obispo CA
Finding SBMA Doc - one good resource for me was http://www.mda.org/. I was diagnosed at the tertiary level at USF but my local docs had never seen SBMA. I went to the the closest MDA Clinic in Santa Barbara CA and the doc there has seen several cases. MDA has some nice benefit programs as well.
I believe is is especially important to see a doc with several SBMA patients now that there are some highly probable treatments for symptoms and perhaps cures within sight.
email:rheitzman at gmail
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Kennedy's Disease Association
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