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Thanks Jan, I'm scheduled to see a neurologist in May. I plan to bring my report to her and have her follow through. I started with symptoms around 7-8 years old. I had trouble running, I would get what people wrote off as " Charlie Horses" and growing pains. I should be the 100 foot man by now and still growing if that's what they were. I could run fast, faster than most but my legs would turn to mush and I'd fall. They would hurt for days afterwards. I've also been a vocalist since age 6.If I get nervous and the adrenaline starts to flow, I stiffen up like a rock. I've learned to shake it down and keep moving to stop the symptoms. Oddly enough, the day after a nervous event, my whole body aches bad and I pretty much can't do a whole lot. I know, why do I keep doing it? I'm not dead yet !
Your description sounds like me, except that it has always been a part of me, from my very earliest memories. As a woman of not much more than 5 feet tall, I also should have been 50 or 60 feet tall. But mostly they just said I was lazy and unmotivated. LOL - hardly!! But I didn't learn what I had until I was 54. (I have Becker's type Myotonia Congenita, the recessive one).
This is Great ! To be talking with people who understand. I feel like I've been out in the field alone with no one to compare notes with. People don't understand and can't comprehend what you're experiencing because there's nothing visible. We're not wheelchair bound, deformed and 99.99999% of our episodes go unnoticed by everyone. We don't look for sympathy , just someone to say, " I know how you feel " and mean it. That's happening here and I'm extremely grateful that you have this forum, God bless!
Amen to that!! I lived 54 3/4 of my 58 years knowing there was something wrong with me, which no-one gave any credence to, and basically laughed me off. Even though I am a nurse, it was simply not a condition I had ever heard of, and no doctor ever took my descriptions of my symptoms seriously - they couldn't see it, so it didn't exist. Like you say, we get so good at hiding it, and it becomes such an integrated and unconscious thing for us to make excuses, jokes, to avoid things we know will make it obvious, or just forge ahead and push ourselves to appear perfectly normal.
If you want to feel really "at home", go to Jan's main website page, and read the stories that a couple of us wrote about ourselves. You will identify with just about everything, and find yourself giggling or crying at how alike we all are - each in our own isolated field, or in many cases, whole families in their own fields! SO many of the people who had diagnoses had never met another person who has MC, and those of us who are new to the diagnosis found so much information and guidance.
Thanks Lois, I have been reading them and ya, it's like reading your life written for you. Jan gave me a lot to go on. I have more work to do starting with my Thyroid meds and New Dna test to see if my unidentified mutations have yet been identified. You're all a huge help, thanks for the support, info and for shedding some light on this "lonely soul in the field".
David, you shouldn't need to repeat the DNA test. The lab that did the test should have the updated information. Just call and ask to talk to one of the genetic counselors for an update.
The mutation in question was identified, they just didn't have a correlation with clinical symptoms. Labs all over the world publish their new findings periodically so over time the information changes.
Your first mutation was called a transversion which means one amino acid was substituted for another in the sequence. The other was a transition mutation where there was no replacement of an amino acid, but one nucleotide was exchanged for another (nucleotides provide the structure for RNA and DNA). Transition mutations are actually more common in genetics but either one can affect function.
I could be wrong on this, but I believe the first mutation would be notated as F413C, and the second would be 464C->T. If you do a search on F413C and myotonia in Google you'll find lots of references so that one is pretty common. The other one I don't see offhand.
Thank you !
I know this is an old thread but I just got my results back and was going over the mutations and I found it a bit interesting because I have F413C, F167L, and then 464C ->T
F413C, and F167L are cataloged as autosomal recessive but maybe F413C overlaps with Thomsen.
Type of Myotonia: Becker
Thanks Jenna and best of health to you!
Type of Myotonia: Beckers
Country: United States