Test Result Details, Etc.

Sequence variant in the SCN4A gene at transition A > G, nucleotide position IVS19+10.

From the report: "Since this type of sequence variant is similar to those observed in disease-associated mutations and benign polymorphisms, the nature of the variation prohibits definitive interpretation."

Forty other variants in the SCN4A gene have been linked to a variety of muscular disorders. Also, disease-associated mutations of the gene have a high penetrance, which means that carriers of the mutations have a high likelihood of developing the associated diseases.

But again, the report basically says that there isn't enough known about the variant I have to determine whether it is associated with disease or not.

Soooo . . . 40 other variants in this gene are known to cause muscle disease, I'm sitting here with the same darn symptoms, and the lab can't say, "Yes, this is a problem"?

However, the lab does say that "careful reconciliation of this molecular data with this individual's clinical and family history is highly recommended. Athena strongly recommends genetic counseling for this individual and his or her family members, and consideration of testing for family members."

SCN4A gene variants can be both inherited and sporadic. Inherited forms are autosomal dominant, which means a child who has just one parent with the defective gene has a 50% chance of having it as well. My symptoms go back many years; I may have had mild symptoms even before I had my son.

For more information about the gene itself and the kinds of problems its mutations can cause, check out the SCN4A page at the National Institutes of Health US National Library of Medicine.

Test Oddity

I called today to get the results of the Athena Complete Myotonia Workup that the last neurologist ordered. (He originally ordered it instead of the VGKC antibodies test, but then added the VGKC to the order.)

All of the standard components that indicate myotonia were normal. However (boy, it feels good to have a "however" - it feels good to have anything resembling a clue at this point), there was one component of the test that was strange. One of my sodium channel results was odd. Evidently, there is an aberration in my DNA sequencing relating to this one sodium channel.

The neurologist who left me the message with my results (who is filling in right now for the one who ordered the tests) said that the channel in question was not known to cause problems and was not commonly tested [update 11/04/10: clearly, I misunderstood this bit; the gene, SCN4A, is sequenced because it has many variants that are known to cause problems; this variant is one whose significance is unknown], and that the clinical significance of this result is unknown. But that sounds a whole lot better to me than "clinically insignificant," which seems to be the go-to phrase for test result hiccups.

I do have to wonder why this component was even part of the test if this sodium channel is not known to cause problems and no one knows what aberrant results might mean. In other words, why test for something that means nothing? Surely it must mean something to someone.

I missed the neurologist's call by about five minutes, so I called back immediately and left a message asking him to call me back. Hasn't happened yet, so I'll post when I know more.

My VGKC Antibodies Test Was Negative

I Don't Think I'll Be Updating for a Little While

My arm/shoulder area is definitely the worst hit by this, and right now I'm in just excruciating pain, so I'm banning myself from non-essential internet use. I won't even be checking in for several days.

Of Syndromes and Spectrums (crossposted to the sister blog, Another Invisible Illness)

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 the 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.

Great Support Forum

If you aren't aware of it yet, the Isaacs Syndrome-Neuromyotonia CFS World Forum site is a really great resource. It's definitely the biggest forum I've seen, and it has lots of links to great research. You have to join, but it's free and definitely worth it.

http://isaacsyndrome.proboards.com/index.cgi

MedHelp Links

A link to the Peripheral Nerve Hyperexcitability forum on MedHelp:

http://www.medhelp.org/forums/Peripheral-Nerve-Hyperexcitability-PNH/show/328

A link to the Cramp Fasciculation Syndrome and Neuromyotonia group on MedHelp:

http://www.medhelp.org/forums/Cramp-Fasciculation-Syndrome-and-Neuromyotonia/show/872

Medication Setback (crossposted to the sister blog, Another Invisible Illness)

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:

Awareness Ribbons

I've looked and looked, and can't find any indication that peripheral nerve hyperexcitability disorders have any kind of awareness ribbons.

So I'm making some. I'm using pale yellow for a general peripheral nerve hyperexcitability ribbon, since nerves are a pale yellow bordering on white.

I'm also taking that general ribbon and adding dark pink lettering to make a CFS awareness ribbon. The dark pink is to represent muscular disorder. I would go for red, but I'm leaving that open in case someone with neuromyotonia would like to use it.

Here they are:

Links to Abstracts and/or Papers

General information:

http://brain.oxfordjournals.org/cgi/content/full/125/8/1887

http://www.neurology.org/cgi/content/abstract/41/7/1021

On rarity:

http://www.springerlink.com/content/y02548886n72386h/

http://www.ncbi.nlm.nih.gov/pubmed/16340924

On bronchial involvement:

http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ArtikelNr=000095703&Ausgabe=232196&ProduktNr=223840

On the possible development of more serious disorders (please note that this refers only to CFS, not BFS, and is thought to be extremely rare):

http://www.neurology.org/cgi/content/abstract/63/4/721

Cramp Fasciculation Syndrome and Benign Fasciculation Syndrome Are NOT the Same

Peripheral nerve hyperexcitability (PNH) disorders are on a spectrum. At one end is benign fasciculation syndrome (BFS), at the other is neuromyotonia (Isaacs Syndrome). Cramp fasciculation syndrome (CFS) falls in the middle.

Before I explain the confusion of CFS with BFS, I'd like to touch on the differences between the different disorders on the PHN spectrum.

Benign fasciculation syndrome: Harmless twitching. It can be irritating if on the face or if very strong when patients are trying to sleep, but it doesn't generally come with pain. Patients may, sometimes, experience paresthesias (pins and needles feelings, shooting pains, cold sensations) and/or mild fatigue, but most don't. Many patients worry excessively that their twitches foretell a more serious disorder like amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease). EMGs are negative or show fasciculations only.

Cramp fasciculation syndrome: Harmless twitching (twitching may be very strong and may undulate) and cramps that may be painful, and usually some combination of the following: muscle stiffness, paresthesias, fatigue, and exercise intolerance. Health anxiety is not an issue. Most of the research I've found says that EMGs are negative or show fasciculations only, but my doctors say EMGs can show more if they are still considered nonspecific.

Neuromyotonia: All of the symptoms of cramp fasciculation syndrome, with the additional symptoms, for some, of excessive sweating or delayed muscle relaxation. Health anxiety is not an issue. EMGs have "multiple high-frequency waveforms."

Cramp fasciculation syndrome is sometimes referred to as benign cramp fasciculation syndrome (BCFS) by both doctors and patients. It is not uncommon to hear patients, especially those with BFS, refer to it as "BFS with cramping." (It's important to note that, as concerns both BFS and what is sometimes called BCFS, "benign" refers only to the fact that the condition will not lead to a fatal condition [though with CFS there is some disagreement on this point, with some researchers considering the development of a motor neuron disease an extremely rare but sometimes possible outcome]; it does not in any way imply that the conditions cause no disability.) However, referring to CFS as "BFS with cramping" is misleading and, I think, completely undermines the experiences of those with CFS.

Many researchers are inclined to point out that the main difference between CFS and neuromyotonia often lies in EMG results only. This link, to an article written by several experts in the field, explains this more clearly.

I said in the introduction that I'd be mentioning a little more about my own symptoms. Since the progression of my symptoms helps make my point, this seems like a good time.

I have all of the symptoms associated with CFS, as well as the sweating associated with neuromyotonia. Twitching and cramping, while they occur frequently, are the least bothersome to me. In fact, my first symptom was muscle tightness. It goes back many years further than the year I consider the start of my symptoms; I don't count back that far primarily because I was always a very active person and don't know exactly how much of my muscle tightness during those years can be attributed to my lifestyle and how much can be attributed to this disorder. I do know when I began to feel as though I was pulling muscles for no reason, so that is the year I use when doctors ask me when my symptoms first began. I had already begun to experience extreme fatigue and some paresthesias long before (as in years) my twitching and muscle cramping even began. Frankly, I think it minimizes everything I've gone through when I hear others speak of this disorder as one of possibly irritating twitching with some cramping thrown in.

Introduction

Hi. I'm Another Invisible. As in, another person with an invisible illness. Another person who looks just fine a lot of the time, but isn't. Another person who can walk a straight line in a doctor's office but can hardly make it to my car after I've spent an hour at the mall looking for a birthday present.

I was just diagnosed with something called cramp fasciculation syndrome (CFS). It took me 13 years to get this diagnosis. That's because I was just another member of the working poor when my symptoms first began, doing the best I could to feed my family - working full time but unable to afford health insurance. When I began seeing a doctor regularly, I was clearly, to her, just another patient with the aches and pains of aging. I was even told, "You're too young to feel this old!" (I knew that; it was the reason I was mentioning my symptoms to a doctor.) When I finally pushed for testing, I was just another patient with negative antinuclear antibodies (ANA) panels. I was another person getting another shrug. No; I was another person getting the same shrug. The same shrug, over and over.

I was another patient who "might" have fibromyalgia (except for the fact that so many of the symptoms didn't fit). Another person who "might" have chronic fatigue syndrome.

That wasn't good enough for me. Chronic fatigue syndrome might, according to researchers, be several different disorders. And it's often treated with pain-suppressing medications like Lyrica. I wanted the pain to stop, sure, but I didn't want it simply covered up - I wanted to know what was causing it, and I wanted that process stopped in its tracks.

Eventually I found a wonderful primary care physician. One who believed what I said, who believed I had a muscular disorder of some sort. At the same time, I became just another mentally unbalanced woman to specialists, one who either wanted attention or one whose anxiety was so extreme it was manifesting itself physically.

One such specialist told me I didn't need the electromyograhic study (EMG) that my doctor had requested. Instead, I needed a neuropsychiatric evaluation. We bartered: I would have the neuropsych if he would order the EMG.

The neuropsychiatric exam was normal.

The EMG, though nonspecific, was not.

I first brought my complaints to a doctor roughly eight years ago. It's taken eight years to get a diagnosis, and I only got one because I pushed so, so hard for one.

You might be in the same situation. If so, or if you're interested in this condition for any reason, I welcome you to read on. I'll talk a little bit about my symptoms and experiences, I'll voice my opinions about some of the issues CFS patients face, and I'll post as many links as I can find to medical studies about this disorder.