Hello Emily @emh011, Welcome to Connect. I think there may be quite a few active members in this discussion. You can see the last time a member was active by clicking on their profile icon to the left of the post. It shows when they were last active along with the number of posts they have made and when they joined Connect.

@jonesmon, @larryh123, @skeleton, @callalloo, @jcatrette, and others may be about to share their experience with you. @larryh123 share the Muscular Dystrophy Association site earlier in the discussion here that might be helpful:
--- Myotonia Congenita (Thomsen Disease and Becker Type): https://www.mda.org/disease/myotonia-congenita.

Have you done any research for support information?

Hi Emily, are you still active on this discussion board?

I am the mother to a 3-year old daughter with MC-Thomsen's (inherited from her dad's side/her paternal mother's side). As far as we know, the only people to have the condition in the state of VT are in his family (my partner's family), so we can relate to not knowing others with it. We had gathered a lot of information over the years about this condition, but a few days ago had a geneticist appointment where they said some of the things that we had "learned" were not true, which was a bit devastating and confusing to us. Information is so hard to find, and each specialist gives us different (or possibly conflicting) information (we have been to OBGYN geneticists, pediatric geneticists, neurologists, pediatric neurologists, and cardiologists). We also hear the phrase "it's so rare, we just don't know" a lot.

I would love to see any information you might have gathered about the condition, since it is so hard to find. Our geneticist recently recommended this page and mda.org (the Muscular Dystrophy Association).

An example of possible misinformation that we had had is that we thought that symptoms didn't begin to show until puberty (around age 10 or so), but it looks like this is the onset for Becker's, and that Thomsen's is infancy or around 2-3 years old. We also thought that symptoms were worse for men than women (since it also appears to work this way in my partner's family), but it appears as if this is true for Becker's and not Thomsen's.

@emh011, I was reading a translation of the original description of MC by Dr Thomsen, and he describes symptoms worsening in cold weather or cold environments in himself and his family.