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Very Close to a Firm Diagnosis - Hope My Story Helps Someone
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.
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.
I'm hoping big hopes for you!
--faithHGL
--faithHGL
Thanks! Two medicines are the big ones, acetazolamide (Diamox) and mexiletine (Mexitil). My specialist put me on mexiletine. I'm going into my third day. The first two were pretty rough as far as those temporary side effects some meds have as you adjust to them, but last night was much better and today is okay so far. It also seems to be loosening me up a bit already.
congratulations to you and thank you for letting us know that you have been given the gift of putting a name to what has been ailing you for 13 years.
what is the treatment?
blessings to you,
binx
what is the treatment?
blessings to you,
binx
Yep, sodium-channel myotonia congenita, which is the same as acetazolamide-responsive myotonia, a kind of potassium-aggravated myotonia.
Best specialist ever. My EMG didn't show as many abnormalities as the one before, but he said he didn't need it to - what was happening shouldn't be. Huh. The doctor who knew the most put up the fewest hoops for me to jump through. Nice.
Best specialist ever. My EMG didn't show as many abnormalities as the one before, but he said he didn't need it to - what was happening shouldn't be. Huh. The doctor who knew the most put up the fewest hoops for me to jump through. Nice.
Weird, man. The dr.'s report came today. He says the suspect is "myotonia congenita," not "paramyotonia congenita." That didn't seem possible; they are caused by two different genes, and I know which gene of mine is wonky. Did a little digging, and guess what? Atypical cases of MC can sometimes be caused by my wonky gene. Huh. Some symptoms of each sound like mine, and some don't.
@Suz: I hear ya. It *****. Just remember, you are not alone and there WILL be light at the end of this horrible tunnel.
@Suz: I hear ya. It *****. Just remember, you are not alone and there WILL be light at the end of this horrible tunnel.
I am so pleased for you, shame it always takes so long for us to be listened to though.
I have just started a 'break' after 2 neuro's gave up on me and now rheumy has done the same...I've lost the will to go round on the treadmill again. I will get back on it when I feel the urge but just now I'm drained.
I could do with meds that relax muscles and not the brain, sick of living the life of a zombie.
Once again I'm glad you have got your answers.
Suz
I have just started a 'break' after 2 neuro's gave up on me and now rheumy has done the same...I've lost the will to go round on the treadmill again. I will get back on it when I feel the urge but just now I'm drained.
I could do with meds that relax muscles and not the brain, sick of living the life of a zombie.
Once again I'm glad you have got your answers.
Suz
Thank you!
Yes, NEVER give up. I "took breaks" many times when I'd hit what seemed like a dead end, so I totally understand the urge.
Fortunately, I have a very supportive husband and an excellent insurance package (its union). My heart breaks for the people who don't. I know what they're going through.
But never give up hope even without great insurance and without great doctors - life can change on a dime.
Yes, NEVER give up. I "took breaks" many times when I'd hit what seemed like a dead end, so I totally understand the urge.
Fortunately, I have a very supportive husband and an excellent insurance package (its union). My heart breaks for the people who don't. I know what they're going through.
But never give up hope even without great insurance and without great doctors - life can change on a dime.
Oh wow this is brilliant I am so pleased for you.
I am hoping that I have a visit on the 21st February to finally see the rheumy and maybe just maybe I might find out something for me too.
It goes to show you though that we shouldnt STOP looking for answers.
I am so pleased for you. xxxxx
I am hoping that I have a visit on the 21st February to finally see the rheumy and maybe just maybe I might find out something for me too.
It goes to show you though that we shouldnt STOP looking for answers.
I am so pleased for you. xxxxx
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