I Have My Diagnosis

I have the sodium-channel form of myotonia congenita. More here.

This is my last blog post here; I haven't quite decided whether I'll be adding to the cramp fasciculation blog or not.

At any rate, I'll keep the old material available. Feel free to link to or quote from either; I do ask, however, that you acknowledge the source and the author, Another Invisible.

Down to Sleep

I'm pretty sure that I'm going to be shutting down the blog soon. The whole idea of this blog was to document my journey to diagnosis, and I'm almost there.

However, I want to address the issue of sleep and cognitive function before I put the blog itself to sleep. I read a question on a forum the other day, and had the urge to respond to the poster with, "A lack of sleep can do that!" But I didn't. Not because I didn't want to help, but because I knew - I know - just how patronizing a statement like that can sound when a person is facing a serious issue. Too many people throw out statements about sleep and stress and overwork as though they are parachutes that can billow out and cover all of a person's symptoms. The last thing I wanted to do was make the poster, likely a person with a very real physical disorder, feel dismissed. And I wasn't sure how to say what I wanted to without sounding dismissive.

So I'll write it up here, and the next time I need to pass this information along, I can offer words of support and encouragement and belief and embed a link.

This is purely an anecdotal entry; in an earlier entry, I said I'd found research that indicated severe sleep deprivation could cause cognitive issues, and that's true - but this entry is just about my personal experience.

The muscle tightness I experience leaves me with constant, excruciating pain, even on the best of good days. As a consequence, I don't sleep well. I usually drift off out of sheer physical exhaustion about three or four hours before I have to wake up and get the kids off to school. I don't sleep soundly during these three or four hours. I don't know if that is because of the pain, or if I don't let myself sleep deeply because I know the alarm clock won't rouse me if I do.

Before this past summer began, it had become impossible to deny that my thinking had become muddled. I was using the wrong words for objects several times daily, or having trouble finding the words for objects. It was difficult to read anything longer than a magazine article; I simply couldn't concentrate. I would rack my brain to remember how to complete tasks I'd done for years; I would misspell simple words in the most embarrassing ways. (Here, think they're, there, and their, which I've known how to distinguish since at least the second grade. As an aside, rack also looks wrong, doesn't it? Looks like it should be wrack, but it shouldn't.)

But that all changed over the summer, when my husband began working second shift and the kids did not have to wake up for school. Clearly, a second-shift schedule brings its own set of problems, but it was wonderful for both my husband and myself in terms of sleep. The kids would be in bed when he got home, and he and I could stay up as late as we liked. Neither of us went to bed until we were tired enough to sleep, and both of us slept until our bodies told us to wake up. Adolescents being adolescents, we were still both up before the children.

I began thinking more clearly. I stopped switching out my words. I tackled a few books I'd been wanting to read. I even worked up the nerve to tackle some online IQ tests; nothing official (those things are expensive), but legitimate, psychologist-created tests and not the game-like tests advertised on social networking sites and the like. My results reassured me that the scores I'd gotten on an earlier set of tests (taken with a migraine and on four hours' sleep) probably weren't truly reflective of my scores under normal circumstances. (I'd known they weren't in line with scores I'd received on IQ tests I'd taken years ago, but that didn't mean I couldn't have had a real drop.)

The extra sleep didn't, however, affect my muscle tightness or pain. It also didn't give me a great deal of extra energy. Some, yes; a great deal, no. Fatigue is just part of this; it's the result of energy expenditure in the muscles that isn't visible to the eye.

At one time, I would have thought that a person with sleep deprivation severe enough to cause such muddled thinking as I experienced would have been unable to walk or converse or drive. That's just not true.

Now, with my husband back on a regular work schedule and one semester of the new school year down, I've noticed a bit of word switching creeping back into my conversation. Fortunately, in a week or so I'll likely be on new medications that my doctor assures me will work rapidly and well, so I'll get good sleep once again.

I'd better start storing all the sleep I can possibly get - in a couple of years, the kids will be dating and driving.

A Specialist Suspects Myotonia Congenita

More here.

SCN4A Mutation

Well, I've had other test results come back. The only thing abnormal is a mutation in my SCN4A gene. The Athena test results say that the clinical significance of this result is unknown, because the variation is of a type similar to both disease-causing variations and benign changes seen in the general population.

However, many other mutations in the SCN4A gene have been linked to muscle disease.

I've added a more thorough write-up about the test result and SCN4A here, on the Cramp Fasciculation blog.

My VGKC Antibodies Test Was Negative

Of Syndromes and Spectrums (crossposted to the sister blog, Cramp Fasciculation Syndrome)

I've said it before, but it bears repeating: CFS and neuromyotonia are not BFS. Part of the problem lies in the medical literature; even Adams and Victor's Principles of Neurology describes CFS as both "probably a variant" of BFS and as "a mild form of neuromyotonia."

To understand how these syndromes can be the same and yet so different, it's important to know what a syndrome is. A syndrome is simply a collection of medical commonalities.

As a collection of commonalities, BFS, CFS, and neuromyotonia are essentially the same syndrome with drastically differing levels of severity.

But this does not mean that they have the same cause.

Indeed, a singular cause for all three has not been established. What is known is that both CFS and neuromyotonia can be acquired, hereditary, or paraneoplastic. A few patients with CFS, and more, but not all, with neuromyotonia, demonstrate elevated voltage-gated potassium channel (VGKC) antibody levels through blood serum tests.

Though researchers think there may be many catalysts for the development of these disorders, they are in complete agreement that they symptoms of CFS and neuromyotonia are caused by physical processes.

In contrast, patients with BFS never show elevated VGKC antibody levels. Some researchers theorize that BFS is indeed caused by the same physical processes that occur in those with CFS or neuromyotonia. This is quite possible in many cases, since the sensitivity of the antibodies tests are questioned. Other researchers theorize that the symptoms of BFS are a physical manifestation of stress. It could be that there are several causes for the twitching known as BFS.

My point is not that those with BFS are stressed or unbalanced. Some may be, and some clearly are not. My point is that there is unanimous agreement among researchers that CFS and neuromyotonia are not caused by stress; they are physical disorders with physical causes.

Medication Setback (crossposted to the sister blog, Cramp Fasciculation Syndrome)

I was prescribed carbamazepine, sometimes marketed as Tegretol. The neurologist who prescribed it had me start with less than a half dose and build up slowly to a full dose.

I didn't think too much of the wooziness; after all, one of the reasons for starting small was that the medicine can give users a drunken feeling and it's best to adjust to its effects gradually.

I also wasn't too concerned about the flu-like symptoms; I just thought they were part of the drunken feeling I was supposed to be experiencing. About the time I started taking the full dose, I noticed swollen lymph nodes. That was a little more concerning, but I hoped they'd go away.

Last night I noticed a rash, first on my legs and arms, and then on my back. By today, it was all over my body, including my face.

The itch from it is agonizing.

The neurologist who prescribed the medicine said to stop taking it immediately and to see my general practitioner. I'm still waiting for my general practitioner's office to get back to me. I've already explained my symptoms to the receptionist; now I'm just waiting to see if the doctor wants to see me, or if he's just going to call in a prescription for steroids.

I have no idea what I'll need to try next for the muscle tightness and pain; the neurologist won't prescribe anything until this reaction clears up.

I'm posting a couple of photos of my legs/feet. They don't really do this rash justice, though, because the flash largely washed out the redness: