Hello everyone,

I have been undergoing the standard (extensive) workup for motor neuron disease. My doctor originally thought I had a pretty classic case of KD, but my gene test is negative. Not borderline-kind-of-almost-maybe high enough, but stone cold normal. I do not have the gene defect. Period. I've had all the tests otherwise--EMGs, repetitive stimulation tests, single fiber EMG, muscle biopsy, labs...all of it.

It is confirmed that I have primary motor neuron disease, I do have low testosterone and gynecomastia, and my doctor thinks it is gene-negative KD. He showed me a medical journal article where a case like that was described in Japan. He says it is the only other case that has ever been described in the medical literature that he is aware of.

So, it seems the odds of this are incalculably rare, but possible. I think he is a good doctor and I trust his opinion, but there is another part of me that wonders why this isn't ALS, the most common motor neuron disease in the world, twice as common in ex-military personnel like myself. Maybe the endocrine disease is a distractor.

He wanted to send me to Mayo Clinic for their opinion, but my insurance does not cover Mayo (of course). So, I guess my question is if there were one doctor you would consider the best person to see for a possibly extremely rare form of KD, who would it be? I need to get the best opinion possible, under the circumstances, since there is no known test to confirm what he thinks I have.

Although seeing a doctor doesn't change what I have--it is what it is--it might help me prepare. Will I live or will I die? That's the million dollar question...

Thanks a lot for your consideration. God Bless.

Chris

Chris, I will check with one of our neurologists on our Scientific Review Board. I have not heard of this condition, but I had never about Kennedy's Disease either until my brother was diagnosed with it.

Chris, Dr. Fischbeck responded to your forum comments/questions:

"The question of KD look-alikes has come up from time to time. It usually turns out to be what the writer suspects, a disease such as ALS resembling KD with coincidental gynecomastia. We can see him here at the NIH for evaluation. He'd have to get himself to Bethesda, but the evaluation would be free. Alternatively, if he lets us know where he is located we can suggest others in his area with appropriate expertise. Certainly the Mayo Clinic has excellent specialists and would be a good place to go for this problem. If he would like to be seen here he should contact our intake person and genetic counselor Alice Schindler, schindlerab@ninds.nih.gov. Hope this helps."

I can understand your frustrations with everything you are going through right now. Let us know if we can help further.

God bless you. I will contact Dr. Fishbeck's staff on Monday. When God closes a door, he often opens a window...

Chris, How wonderful of Bruce to be able to bring your concerns to the right people and for Dr. Fischbeck to make such a generous offer of assistance for you! I sincerely hope you will find the answers you are seeking.
Carla