Kennedys Disease Community
Horrible Frustration/Depression/You Name it

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05-03-2007, 08:52 PM
Horrible Frustration/Depression/You Name it
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.
'Nuff said.

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? Confused
05-04-2007, 07:56 AM
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.
05-08-2007, 09:25 PM
Thanks for the support. After a few days of calming down, I realize that I do need a specialist to interpret the results.
05-17-2007, 11:41 AM
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.
05-21-2007, 11:11 AM
Bob Heitzman
Finding SBMA Doc - one good resource for me was 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