So I cannot tell everyone how relieved I am that my mother found this site for me. I would say there are quite a few frustrations with this disease, but one of the main ones for me is the emotional turmoil that come with this disorder. It is such a misunderstood disease and from an outsider's view I could see why they just do not get what is going on with our bodies. Our disease even throws us for a loop quite often as well. I guess what I am getting to is that it is nice to be able to talk to people who are going through the same things.
My husband has the hardest time understanding how sometimes I can do things just fine and minutes later cannot even move. He use to think that I was not trying hard enough or I was using my disease as a crutch. It is hard enough dealing with the disease but even harder trying to get your loved ones to understand. Fortunately my mother understands me the most since she has been with me from day one. I was at my kindergarten physical at age 5 when the doctors noticed something was wrong. So to make a long story short I went through all kinds of testing and they quickly diagnosed me with Myotonia Congenita. I am now 25 and have learned lots of little techniques that appear normal in hopes that no one will notice my personal struggles. However, it was horrible as a child. It has always been a constant struggle of mind versus your body. When I was younger my stiffness and weakness was predominantly in my legs. As I have gotten older my stiffness and weakness as spread up through my body up to my facial muscles. Everything is affected now. My appointment is coming up to be tested for Becker's or Thompson's, but from what I have read I am pretty sure I have Becker's. It has gotten to the point where I cannot even hold my arms up sometimes to put my hair in a ponytail and I have to physically lift my leg up to push on the break when I am driving. That is of course if I have not had to move my leg when I am driving on roads such as the highway. I still do light exercise and as long as I do not over due it then it does help. I have not thought about Myotonia correlating with my diet so that is the next thing I am going to do to see if that helps. I have tried Mexilitine, but the side effects were not worth it to me so I would rather battle this naturally.
My husband and I are going to be trying to conceive in the next year or so, so that is another reason to keep battling this naturally. That is something that has been brought up a couple of times between my husband and I, can any of the women that have Myotonia Congenita share their experience of being pregnant? Any advice or concerns that we should be aware of? Of course we will consult our specialist, but it would be nice to hear from others with experience. There is so much more to my story but I guess that is the gist of it for now. Since we live with this disease every day it affects more than we realize I think. I am grateful to be able to share and learn from others as well. I agree that Myotonia Congenita is yet another reason to take life day by day.

Jessica

Type of Myotonia: Beckers

Country: United States of America

Hi Jessica:

While the type of weakness you describe is fairly uncommon with MC, some MC causing mutations seem to be more associated with weakness than others.

Because your weakness sounds so pronounced though, you might want to ask them to test for SCN4A mutations, and myotonic muscular dystrophy type 2 as well, or keep them in mind if the MC test comes back negative.

Jenna

Type of Myotonia: Becker Myotonia

Thank you Jenna! My next appointment to see my neuromuscular doctor is at the end of this month so I will definitely mention it to him. I have not visited for 5 years or so....and I have not done any testing since I was a child so I think it is about time for that again. Thanks again

Jessica W.

Type of Myotonia: Beckers

Country: United States of America

If you have insurance, you will want to take advantage of the genetic counseling you can have ordered by your gynecologist, in anticipation of family planning. This is a normal and customary process, and if it is Becker's, there is almost no chance you will pass it on to your children. But you do want to know what you have, and have the reassurance of knowing what to expect.

I didn't learn my diagnosis until I was 54, and even though my husband is supportive, and says he "gets" it, I know that he doesn't quite. But, for me, just finally having proof that I am not lying, faking, lazy or any of the other nonsense I heard all my life - what a relief. I also learned, from a VERY young age, to mask or explain away my issues, and after a while, it just became second nature - I guess, in a way, my MC forced me to actually become the faker and liar my family thought I was - but for the opposite reason!! LOL - lois

(oh - by the way - since I didn't know I had MC when I was pregnant, I just muddled through. I was very happy to be having a baby, so I ignored all the rest!)

Type of Myotonia: Myotonia Congenita, Becker's type

Country: USA