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DO I HAVE ANOTHER DIAGNOSIS IN ADDITION TO MC THOMSEN

It has been very good for me to read this forum. When I was 18 yrs old, I had trouble letting go of door knobs. This fast quickly and had no trouble until 2003. I have,always, been a small person. I weighed 88 lbs when I graduated from high school. My muscles are NOT hypertropied. I was energetic, worked 10 hour days and came home to mow and wash the car. (One of those superwomen) I am now 54 years old, and had to recently quit my job as a Hospice Nurse. My story deals with pain. Pain started attacking me in 2003. Doctors thought is was my gallbladder and removed and perfectly good organ. But the pain ended. I learned latter that MC can attack the Gallbladder. Pain then attacked my left arm, went away and then attacked my left leg. Pain attacked many other places but my story would be too long to this what I have experienced in the last 3 years. I started to become weaker. Long story short - finally a nerve conduction test was performed and followed by DNA testing indicating that I had MC-Thomsen mutation in the CLCN1 gene. I thought "finally" someone was going to help me. NO! I have seen 6 neurologist (which includes one from MDA Clinic in St. Louis and I spent my own money to go to the Mayo Clinic. The Mayo Clinic neurologist recommened Dilantin and said I was not typical and she had seen Thomsen Myotonia this bad. (Pain-weakness-fatigue-stiffness) Dilantin helped from a while and now I am being attacked again with pain anywhere, at anytime and as long as it wants to attack and then just leave and attack another area. Two years ago, I could transfer a patient, ride a bike, mow the grass, etc. None of these doctors seem to be concerned that within 2 years I was losing my quality of life. And, a course, I am being treated like a hypocrondriac and a nurse who thinks "she knows it all"!

Tinitis started two years ago. Now I have moderate hearing loss. Is anyone else losing their hearing?

I have developed carpal tunnel and it is bad and I can't hardly bear the pain. Do you have this?

My right hip and thigh now hurt after 10 minutes of walking and the foot goes numb. Been to the orthopedic doctor. Do you know that I have had every MRI done on brain, c-spine, L-spine, pelci, hip, foot, etc. and nothing shows up. (therefore, I an unbelieveable)

I tried aquatic therapy, at my own expense, to see if exercising in water would strengthen my muscles. Results - more fatigue. Does this story sound familiar or not?

As many of you know, losing your income is devastating. I am trying for disability.

I,also, have develop cognitive problems. Can't find the right word, can't spell simple words, can't concentrate and remember what I read, and my memory is very bad. (Please don't tell me this is depression related to my illness - this started before I was diagnosed.)

I am going to see a Rheumatologist tomorrow. I refuse to go DOWN without a fight.

I did a wheelchair to go places. Something is not quite right for just Myotonia.

Also, I tried the Licorice. The product I brought had magnesium in it. Which is used for cramping.

Thanks to all who is listening. And once I read that a donation can be sent to maintain this website. Would you please tell me how to send money. This has been my only source of comfort.

Judy

Re: DO I HAVE ANOTHER DIAGNOSIS IN ADDITION TO MC THOMSEN

Curious to know if you have ever taken Cipro, Avelox, Factive, Leviquin? They are fluroquinolone drugs. If you look in pasts posts Jan gives a list of all of them. What I was reading that you wrote really made me wonder if you took any of them. Also you can google Fluroquinolone drugs for all the names, some thankfully, are off the market. The side affects are not immediate always...but I took them and was falsely diagnosed with carpel tunnel, I have tinnitus...and alot more. I do not have MC, my son does. I do know and it was confirmed with my son's neurologist that Jan's advice about people with MC trying to not take a quin drug unless a last result is best. Also, my son's doctor told us that before we ever put one pill in his system or any anesthia, he must be consulted. Sorry I am curious about what meds you took. Nice to meet you.

Re: DO I HAVE ANOTHER DIAGNOSIS IN ADDITION TO MC THOMSEN

Judy,

Thanks for writing and I'm glad you found the site. I suspect that, like me, myotonia congenita is the least of your problems. For years I couldn't get anyone to look past that diagnosis, either.

I'm encouraged that you'll be seeing a rheumatologist - let's hope it's a good one. Mine diagnosed me with Ehlers-Danlos Syndrome and fibromyalgia which finally explained all the years of pain that was atypical for MC. Be sure to mention any head or spine injuries, too, as these can cause some of the issues you mentioned.

As far as the gallbladder, it's not affected by MC, but it is often an issue with myotonic dystrophy. Since you have already had the DNA testing it was probably caused by the same thing that causes attacks in "normal" people.

Dilantin really isn't the preferred treatment for myotonia any more. Mexitil might help with the stiffness but wouldn't address the pain issues. You might ask your rheumatologist about Neurontin or other similar drugs. I have several friends who take it for fibromyalgia and nerve pain. Some seem to tolerate it well and others do notice side effects.

I did develop tinnitus after a cervical spine injury. It could be related to MC if you have very tight trapezius and other muscles that attach to the skull. Most of the drugs given for myotonia have tinnitus as a side effect. I just keep several fans/air filters going for white noise.

One last thing...don't discredit the potential for menopause to cause you to feel like Humpty Dumpty. Many women develop fibromyalgia in the late 40s and early 50s because of it. It seems like the focus is always on hot flashes, but for me it's increasing pain, dislocation of joints, fatigue, insomnia and even severe heartburn which I'd never had before. A good rheumatologist will be aware of this.

I sure hope you get some answers. It must be hard to give up such an active lifestyle. Don't quit looking for answers, though. I was given that "all in your head" garbage most of my life. I probably went through over 100 doctors before finally getting proof of two other genetic conditions...they can't deny DNA tests and strong family history.

Jan

PS - I accept donations through my PayPal at my e-mail address above. I don't have tax exempt status but they are much appreciated!