Jody, Minnesota, USA
I was diagnosed in 1982 at the Mayo Clinic with Myotonia Congenita. At that time they said I had Thompsen's type. The way they found it was actually weird because I had nerve damage in my arm from the IV during labor with my lst child and when they did the EMG they said I needed to go directly to the Mayo Clinic so I was there in 2 months time. I knew something was very wrong with me because I had these "sore legs" as we called them from the time I can remember where my legs would hurt so bad and I would cry and cry for hours and we never knew when they would come or what triggered them. The only thing that helped was a heating pad and aspirin.
I fell continually at school although I was in track, dancing, gymnastics and was rarely inactive. My mom and dad didn't really take me to the Dr when I was little, they thought they were growing pains and that I would outgrow them. I think they thought I was a hypochondriac because I was sick ALL the time as well, with like strep-throat, flues, etc. I remember one time I was running the 50 yard dash and I was going to win and all of a sudden I was face first in the dirt and I blamed this girl running next to me for tripping me and I cried and cried but I know thinking back no one tripped me, my legs just froze. I also remember always having to let the kids go up the stairs before at school because it took me so long and I didnt want anyone behind me to see how I looked from the back so I would wait until I could do it along which caused me to be late sometimes. I have always been called a klutz by everyone who knows me because I drop things and walk into walls etc.
I have tried every drug they suggested to help with the pain and stiffness like quinine, procainimide, neurontin, dilantin, so many many more and mexilitene, which helps but causes my heart to beat irregular. That is another symptom I have. Sporadic heartbeat although at this point they tell me it is ok. I was told I had Prolapsed Mitral Valve for years but now I am not so sure what it is.
This disease has affected every part of my life. My husband of 20 years couldnt handle my being sick all of the time and we divorced, I almost miscarried both my children and the Drs said No More after that! I have depression from being sick all the time and mostly from the pain I would guess. I go to a pain clinic and they have me on a regimen of pain meds and I now take a anti-depressant as well. I guess the biggest change I would say for me with this disease is the fact that I have had to become an observer instead of a participant. I cant do what I want anymore and dont get me wrong there are alot of worse diseases out there but this one isnt any fun either, at least not for me.
One of the hardest parts was getting the diagnosis because it is so rare and I do go to the MDA assoc every year for my checkup but they dont know what to tell me about what will happen to me, nor what can help me. It would be nice if more exposure was given to Myotonia Congenita so that maybe one the appts at the MDA would have better news. I hope my story helps and thanks for all you do.