@kimcvi
Hi Kim, I can only imagine how you must feel, having such a rare disease that you (rightly) believe not many can relate to. Since day one of your first post on Connect I have followed your journey as revealed by your posts. I was moved by your situation and your description of how isolated you felt having a disease that is virtually unknown to all of the medical practitioners you talked to. I believe you did begin a line of communication with a doc at Mayo who understood and sympathised and gave you what input he could. Also, you are taking gabapentin, 2800 mg/day which seems to not be that helpful if I have heard you correctly. Have you discussed other options to treat your symptoms besides that, i.e. other medications?

In reviewing these posts of yours I notice that in addition to the MC you also have described having certain psychological issues, as conveyed by descriptions such as "thought of being forgotten" and "My issue is I am forgettable" and "once I leave this world no one will even think of me let alone miss me" and "when ever we go anywhere I always take my keys in case they desert me", they being a reference to your family. It sounds like you fear abandonment and you feel that if you are not remembered your life will have been pointless.

Another thread I find throughout your posts is a feeling that you need to give your self pep talks constantly. You need to keep reminding yourself to stay strong, don't worry, be positive, get your mind off the bad thoughts, etc. All good, except for the fact that you mention this method of keeping yourself supported so often that it seems to be indicative of an ongoing insecurity which you are trying to combat.

I know you are frustrated about having no one else to relate to about MC. Few people have it that you can talk to about it. But your psychological and emotional issues are things which could be helped possibly. I think you said you did go through therapy for ten years, primarily for your anxiety. What was the result of that?

The only thing I did not detect in your writings was any sort of relationship with God or spirituality. If you had that it would likely be a good adjunct to your efforts to build yourself up with the affirmations. As I said, there is a place for affirmations, but they likely will not do the whole job of carrying you out of the dark thoughts you are trying to surmount. I am wondering if spirituality is a significant part of your life even though you haven't mentioned it?

Kim, I do not know what the future holds for you in regard to your Myotonia Congenita, but I do so hope you are able to find peace and understanding within yourself, as well as the ability to relax a bit more and have less OCD. I know you know that my heart goes out to you as it has since I first heard about your case. You are an impressive human being and obviously have an amazing spirit. I also know that saying that does nothing to help you ultimately. Some of the help that you need must come from within yourself. Please continue to use Mayo Connect as a sounding board. You will at least always have a sympathetic ear here.

Best to you, Hank

Have you been in touch with NORD? https://rarediseases.org/rare-diseases/myotonia-congenita/.

Hi Kim,
I was recently diagnosed by three Dr's two of who were neurologists. They tell me I have Myotonia congenita AKA Thomsen Disease. I am 53 and mine seem to be triggered when I had to drag a guy out of my car into jail in August of 21. Causing back problems which led to what was believed to be sciatica. After multiple emg's they figured it was Thomsen’s and I had no trapped Nerves. I have tried a bunch of different medications, and nothing has worked. Gabapentin sent my AHI so high I had to stop it plus it was not working well. So now I just had my blood sent of to a lab in San Francisco for DNA testing.

I have pain in my legs like sciatic pain going from my butt down too my feet and into my toes. Then I get pains that come from my back around the front of my chest. I have shooting pains all over my legs in different places.

I have found from my research that Thomsen’s is common in Scandinavian countries where one in ten thousand have Thomsen’s as opposed to America where it is one in one hundred thousand people. So, it is very rare. I can trace my heritage back to the Viking and Dane invasions of England etc. So, I have to believe that Is how I inherited the disease.

I live in the Capitol City here in Minnesota and am beginning to look for resources and I am having the same problems you were experiencing a few years ago as I see I am late to the party 😊

Have you found anything that may help?