In 1998, I asked my general practicioner about it, and he refered me to a local neurologist. The neurologist was an animated fellow who pretty much eyeballed me and thought I had Nemaline Myopathy -- but he was very careful to explain that the only definitive diagnosis was a muscle biopsy. I tried to contact the hospital where I had been diagnosed as an infant, but they had no more records of me.
One day in April of 1999, I visited the experts on congenital myopathies at the University of Rochester in upstate New York. They confirmed what my local neurologist had said: I sure seem to have a myopathy of some sort, and the only real way to diagnose it was with a muscle biopsy. They had tried (as I had) to get information from the hospital I had a biopsy in as an infant, with no better luck. A tentative needle biopsy had been scheduled for the afternoon, so after talking about it and the pros and cons, I agreed to it, and it was done. A follow up meeting was scheduled for two weeks to hear the results.
I asked a variety of questions aimed at determining what sort of results could be expected from the biopsy:
On other matters, I asked them just exactly what was the difference between hypotonia and muscle weakness. They said, essentially, that hypotonia and muscle weakness were not directly related to each other, in that one causes the other, but rather that they can occur independently but are caused by something else (a myopathy in this case). A person could have poor resting-state muscle tone and still be strong. I didn't ask about the reverse.
The biopsy itself consisted of about two needle-sticks for novocaine and such, coupled with some real stinging sensations as they injected who knows what into a particular spot on my thigh. All in all, it felt like about two good bee stings for a couple minutes, some very strange sensations like there was fluid under my skin, and then it was numb. They made some sort of small incision (on the order of 1/8th inch) that I never felt, then stuck in a needle about the fatness of a pen, with hose connected to a motorized pump! I told them to leave some of my muscle behind, please. I did not watch this, and never saw the big needle, thank you, and the doctors seemed to be quite kind in turning their backs on me while handling certain items, and they kept the conversation going to help keep me distracted. Twice it felt like they must of stuck something all the way through to the bone -- though I never felt pain after the preparatory injections. On a good day, they say they extract a plug of tissue the size of a pencil eraser - which I have since seen described as the size of the last joint on a pinky finger (which is less reassuring). They had a good day (even if I didn't), and the entire procedure was apparently quite successful. They slapped on a bandage which looked to me like a piece of clear tape about two or three inches square, and said "don't get it wet for ten days; don't put a lot of stress on that muscle for the next couple days". They said that when the anaesthetic wore off in a few hours that it would feel like I banged my leg on the corner of a table. I was surprised to discover that they were quite right; it felt like there should have been a giant bruise, and it never mustered enough to really feel sore.
I spent the next day and a half exhaling. I did not go to work, as my job involves walking up and down the hills of Cornell, and during the course of work, several flights of stairs, and besides I had been so stressed out I needed to rest.
Nemaline is one of the congenital myopathies (myopathy = muscle disease), and the name comes from the appearance of abnormal thread or rod like bodies in the muscle tissue.
Marty's Muscle Biopsy (April, 1999)The purple areas are composed of nemaline "rod bodies"
The doctor gave no great proclamations about my future other than what I would have guessed: no big deal in store. He does not expect me to ever have to deal seriously with scoliosis (curvature of the spine), or other potential symptoms that I don't currently have. He does not expect much progression (weakening). He said that essentially I should see an expert (him presumably) every year or few years just to keep an eye on things, mainly looking out for long term trends of any kind, with particular attention to cardiac or lung changes/problems.
It is probably genetic in nature (as most cases of nemaline are), though if this is a mutation that started with me it would not be clear as to whether the mutation would affect my somatic (reproductive) cells and therefore be inheritable. (It would depend on when during my fetal development the mutation occurred.)
How rare is nemaline? Pretty rare. I was only his second patient in ten years to have it, and all of the other doctors in the clinic combined only had a few more cases, and I would bet that they cast their net over all of western New York state.
I asked a number of questions about exercise. The most surprising thing was that he does not expect that I would be able to build up much strength -- not even proportionally to normal people. Meaning if a normal person could gain 20% more strength with exercise, I would not be able to gain as much as 20% more strength no matter how hard I tried. He made it clear that exercise was as good for me as anyone, but that cardiovascular fitness was of most utility and importance for me. He recommended exercises that focused on high repetition rather than high resistance. He also indicated that I would be more susceptible to muscle tears and dislocated joints. Dislocated joints would be as a result of the joint being surrounded by weak muscle, less able to hold it in place. The reason for muscle tears was not quite so clear, but it sounds kind of horrific - muscles just plain ripping if put under extremes of stress (strain, not endurance). This I imagine can happen to normal people too, but probably only to weight lifting obsessives. I see no cause for worry; I'm about the last person around who is going to go to such muscular extremes.
I asked about what might be done in the way of preventing future problems, such as scoliosis, and he said, essentially, there was nothing that could be done beyond the normal preventative things that everyone can do for their health. Scoliosis will just happen if it happens. Scoliosis, were it to appear, would be caused by weak muscles not supporting the spine, and there is nothing to be done about it except corrective surgery after the fact. I think I'm a little suspicious of this analysis, but I know little about scoliosis.
Asking him about why I was not properly diagnosed in infancy, he talked about two things.
And off the top of my head, I thought to ask about my high arched palate. Normal people have a normal arched palate, with something else filling the volume above the roof of their mouth where mine is still arching up. It's awfully hard to look at a skull diagram and figure out what is up there in normal people, much less in me. So I asked him what that high arched palate was "displacing", volume-wise. What he said was, essentially, my sinuses. So I guess I have smaller sinus cavities. All I have to do now is figure out what the heck sinuses are!
The Nemaline Myopathy web site
For a so-so description of nemaline and some good Q&A and news about nemaline: http://www.mdausa.org/disease/nm.html
For some good pictures of muscule tissue with nemaline myopathy: http://www.biomed.mcgill.ca/~mmip/Neuropath/case1/1set.htm