I was just diagnosed with a rare form of CMT.

This post, like others that will follow it, is a continuation of my Gambling On Life series.

There is a great sense of relief to finally have a diagnosis for one of my many, many problems. The list of problems is still pretty long, but at least this one has a solid confirmation.. Even if there is no cure, and treatment options are basically a method of slowing the progression and making you a little more comfortable (I'll eventually be writing another piece about how hard it is to treat diseases like this in a smaller city/town, too).

I've previously discussed in passing how just finding out what is wrong - even if I can't fix it - is a good thing.

After my EMG & Nerve Conduction Study, I could've stopped there. We knew - at a basic level - that something was clinicly wrong, but figuring out specifics wasn't necessarily going to guarantee a fix, and most likely wouldn't really change much for any form of treatment.. And it was going to cost me money.

I'm glad I didn't stop, and went forward with the next logical step: Genetic testing.

As it turns out, I hit the genetic.. Well, lottery isn't quite right, because I don't get a prize for winning except for a diagnosis.

According to the results, I've got Charcot Marie Tooth Disease, type 4F.

Fun fact: according to the stats I've read, that's literally about a 1-in-a-million chance of having it.

At least I can blame both my parents on this one: The only way to get type 4F is if both parents are carriers of the specific gene.

Of course, the joy of having this ultra-rare type is it's also pretty severe, and.. Well, there's some scary fucking shit that can happen to me as it progresses. It won't outright kill me, but it won't be a walk in the park, either.

I'm still a little mentally numb after learning more about the disease. The day after I went back to work like normal and tried to focus, but.. I ended up having to take a half day so my neurodivergent ass could research the fuck out of it and "prepare" for solving the new problems that were looming. I found the subreddits, support organizations, and all the clinical data I could reasonably absorb in a day.

That helped: Understanding my new hell is key to living within it.

Here's what else sucks, however:

This doesn't explain all my nerve pain problems. Only the extremities.

For about 36 hours straight this week I had horrific, shingles-like nerve-pain. During the first 24 hours it was pretty much all over my entire fucking body. The last 12 were isolated to my upper-right side.

We have no goddamned idea why, too.

When I got my diagnosis, the doc offered to try a new nerve pain med after the last one struck out hard and tried to kill me. I decided.. No, let's hold off and see if we can get a fix from my RA doc for my other issues first, since we're still trying to find a treatment method that works for my RA (and possibly other nerve pain). Once we eliminate that, then we can see what's left and go from there.

It's fucking insane to have to go through all this, but you know what?

I'm a goddamned diamond-hardened unique-as-fuck snowflake, and I can and will kick all my problems in the ass.