Some of you know me as Trace420; I changed my account/name when I remembered 420 was a euphemism for pot and it probably looked like I was advertising recreational activities that I don't engage in (I do believe the medical use should be legalized, but that's not why I chose that string of numbers).
It's been a long time since I've been on the board, and I can very gladly say that it looks like I'm at the end of my journey to diagnosis. I hope my story helps someone.
I've known something really wrong was happening for about 13 years now. It started with extreme muscle tightness and the feeling of pulled muscles, but over the years, I also experienced parasthesias, exercise intolerance, twitching, and cramps. I experienced a lot of cognitive symptoms that I eventually figured out were just from the sheer lack of sleep I was experiencing because of pain. The disorder crept up insidiously.
The first 5 years, I didn't have health insurance - the next 6, I wasn't getting any answers - just a lot of shrugs as blood test after blood test came back negative. I finally found a WONDERFUL general practitioner a couple of years ago who wouldn't give up, and I lucked into the right neurologists after one absolute jerk basically called me a head case. (We bartered - I'd take his stupid neuropsychiatric exam and he'd give me the EMG. Guess which one was normal? Not the EMG.) The doctor administering the test said, "This is not normal and this is definitely physical." The test was nonspecific, though. That's when I was diagnosed with cramp fasciculation syndrome.
But CFS doesn't really explain a cause. There are theories, and it is definitely sometimes caused by a potassium channelopathy, but it doesn't have to be. CFS never explained, for me, the excruciating muscle tightness that put me in the most pain. Frankly, I don't care nearly as much about the fasciculations and cramps (or even the parasthesias) as I do the crazy tightness.
My neuro ordered a VGKC antibodies test, which was negative, and a myotonia workup, which showed a mutation in my SCN4A gene. These were from Athena and were expensive, but the myotonia workup provided the crucial clue. I just saw a university-level specialist who feels sure I have something called paramyotonia congenita, and I have a specialized EMG scheduled in two weeks to confirm. If it is not paramyotonia congenita, then it is definitely a disorder in the same family of SCN4A disorders.
Paramyotonia congenita is a sodium channelopathy. I've evidently had this all my life, but my symptoms were mild enough to go unnoticed as unusual until my twenties. (I do remember feeling tightness in my back even as a child, but I was very active and didn't know that the degree of it might be abnormal.) SCN4A mutations are usually inherited but can also happen spontaneously, in utero I think. No one in my family has my symptoms, but because I have the mutation and the gene is autosomal dominant, there is a 50% chance my child has the gene as well.
The specialist said that my symptoms should be manageable, which is a great relief. It is so good to know that my child, even if he has the disorder, may never have to experience it the way that I have. At the first sign there might be a problem, he can be tested for the gene and begin symptom management. The specialist also said that there are way better drugs than the ones I've tried, muscle relaxers that WILL relax my muscles and WON'T relax my brain. I'm thrilled.
I'm sorry this is so long, but I wanted to be thorough enough to strike a chord with anyone who might find this information useful. I hope everyone on this board gets their answers, and soon.