A 'TRUE' Diagnosis has been found!

A month ago, I had a visit with my fifth neurologist, my first visit with Dr Jose Ochoa at the Oregon Nerve Center. They ran a full battery of tests (again -sigh-). They came to the conclusion that my neuropathy was indeed getting worse. It's effecting my sensory nerves in my hands pretty thoroughly now (no paint brush, pin prick, hot, or cold feeling up to my wrists). We also noticed motor nerve loss in my toes. I can move them up and down, but I can't flair them. They also did another EMG and saw even further deterioration of the nerves in me legs (the main nerves this time, not just the nerve ends). Finally, the doctor noticed my high arched feet and toes that were curling (hammer toeing). He said this could be Charcot-Marie-Tooth, which is a GENETIC nerve disorder. He finished the four hour exam by putting in an order for genetic testing.

The Genetic panel is back and.... drumroll.... one of the genetic markers came back positive for a genetic neuropathic condition. Now... Charcot-Marie-Tooth (we'll call it CMT) has 4 types and a total of 22 variants. There should be a couple of markers on the genetic testing panel returned to tell what type of CMT it is. Having this one marker is not very well documented, to the point that it is uncommon and new enough to NOT yet be called CMT. It is unique enough, that we have no idea how it may or may not effect the kids or anything. A year or two down the road (with more documentation) it may get categorized as CMT. The downside is it will eventually effect motor nerves in my hands and feet. CMT (because of the motor nerve issue) causes muscle atrophy and is considered under the umbrella of the MDA (Muscular Dystrophy Association).

What is good... Praise God! It should not effect brain function or life expectancy. And... though this may sound strange, but I'm grateful it's not something else. I have had many (much worse) 'possible' diagnoses. We will continue some other tests and begin exercising more. The exercise (probably swimming) will help keep my muscles toned and slow the effects of muscle atrophy.

So, your continued prayers are appreciated. And thank God for giving us (the beginnings of) an answer!