Sigh my computer ate my first reply (I was even typing it in word
). In any case... (Long post warning)
My neuro rocks! His nurse called me today to see if I wanted to come in tomorrow at 11AM for the NCS.
Lydia - My local neuro said that mito diseases can be tricky to diagnose. Since you are basically dealing with "defective" mitochondiral DNA, there can be a host of permutations that can impact everything from the eyes, to the nervous system, to internal organs and muscular tissue (Though I always hoped that if I was ultimately classified as a "mutant" I would at least get to shoot fire out of my nose, or something similar).
Hearing loss seems to be a common symptom in some forms, although it is by no means a required symptom. Does part of your wrist pop out when you try to lift something heavy, or do you have difficulty writing?
Thank you for the website info. Since I've been working twelve hours days with a design team most of this week (Yeah Provigil!), I haven't had a chance to read up much yet, but hopefully will get to look at some more stuff this weekend.
Rose - It is good news, though your deductible story made me feel a little guilty, especially since we squeezed the NCS in too. The mito. study will begin tomorrow after I swing by the hospital. Since it is shipped off to a specialized lab from there, it will take 3-4 weeks for results. We change insurance at the first of the year (though actually a good thing because we move to the Blue Cross/Blue Shield network). I'm hoping to get everything cleaned up because I strongly suspect the old provider will have a "don't know, don't care" attitude regarding claims.
Incidently, I did a double take when I saw your daughter's birthday. It is the same day as my mom's. Before the NCS got moved up, part of me wasn't wanting to be in the doctors office the first birthday since she passed. Then again, the other part of me figured she would have gotten a chuckle out of watching me get shocked (You have to understand her sense of humor).
April - Yes, mitochondrial diseases can often be diagnosed via muscle biopsy, particularly myoclonic epilepsy and ragged-red fibers where they are looking for a build up of damaged mitochondria in the muscle fiber. However it would appear that they don't necessarily get it in the first shot. In my limited reading with my limited knowledge I came across an abstract that mentioned two biopsies prior to a diagnosed of a case that mimicked spinal muscular atrophy.
While browsing the lab catalogue my neuro had to check the codes to make sure he was ordering the whole enchilada, it appears there's quite a bit to an assessment. I was peeking while he reviewed it with me and saw there was a code for DNA sequencing in another part of the catalogue. I was tempted ot ask him if we could throw that in case they needed to clone me.
That's interesting about the hunger, though I don't really have a good bead on what is normal so I don't know as far as I'm concerned (grad school combined with career effectively destroyed any semblance of regular eating habits). I can't remember if you ever mentioned having a vitamin deficiency. Ringing ears is also a symptom of pernicious anemia (chronically low B12), although you mention ear pain too...
Cindy - Thank you for the supprt. This different avenue of opportunity came at a time when I was feeling discouraged due to some progressing symptoms. Did you get any of this snow? Site visits in the cold stink, although I did get to watch a landscape architect almost slide down a hill today.
Ptich - Unfortunately, there is no cure for mitochondrial disorders at the present. I have read that some people get symptomatic relief from vitamin therapy, depending on the type of disorder. Like many chronic conditions that can affect the nervous system, it seems a lot of hope is being placed on embryonic research. I still think the diagnosis is worthwhile because mitochondrial disorders can run the full spectrum, and while some can be severe, I get the impression that others can be managed reasonably well. I think that a person knowing they had a mild to relatively severe mitochondrial disease would be more at peace than a person without a diagnosed who couldn’t shake the lingering fear of NMD.
I'll post some links if I come across any good ones besides the one Lydia already mentioned.
Unlike other genetic traits mitochondrial DNA is inherited entirely from the maternal line. I really don't know how mitochondrial disease manifests as it is passed along. I am really just starting to learn very basic information. My hearing loss began in my late teens and by my mid 20's I had lost most of the "conversational range." The ringing came with it, and is constant (I can't hear the hum of a TV or the tone some cars make if you leave the keys in the ignition or the lights on). Like many people, I never associated it as a symptom of anything but bad ears until my neuro mentioned it.
Take care everyone, and I'll update once I get the NCS done.
Robert
