Follow-up Visit

My visit yesterday was not completely conclusive, but it did reveal 2 major items. The reason it was not conclusive was that 3 items on the complete cerebellar ataxia are still pending, the receipt of these particular results will solidify a diagnosis.

Most results that did come back were negative; however, the test results did reveal a pair of heterozygous POLG1 (DNA polymarase gene). This is what generates protein for the cell mitochondria to produce energy. By heterozygous, I mean that 1 of this pair is functioning properly; the other is not. 2 out-workings of this finding are PEO (progressive external ophthalmolegia), having to do with the eye, & parkinsonism, which simply means that there are some similar symptoms to that of Parkinson's disease.

The test result report does say that this finding is "of unknown significance." If 1 of the 3 pending tests turns something else up, that would be more likely the source of my problems, rather than the POLG1.

The other revealing thing during my visit was my MRI CD, which I had asked the hospital here to make for this particular visit. My neurologist told me that my cerebellum and spine are small, characteristic with people with cerebellar ataxia, and that instead of looking full and bushy, my cerebellum resembles a "winter tree." This is not reflected in the MRI report, so I am very thankful for the CD that my neurologist was able to view. I apologize for the size of the picture in the link (associated with this post title -- mouse over the words "Follow-up Visit" & you should see a hand instead of the butterfly or I bar; click there), but it was the only 1 I could find that shows what I mean. (By all means, let me know if you find a clearer diagram.)

I have another appointment scheduled there for 23 June, 2008, when we may hopefully know the pending test results. The plan then is to visit annually just to "check in" with my neurologist. Presently, no treatment exists for any of these hereditary conditions, but who knows .... at some annual visit, my doctor may be able to tell me about some newly developed treatment!