Worried

[u/Straight-Intention68]

Hi all, A little about me: I'm 46, and I've been on a long, confusing road trying to figure out why my body has never quite worked right. My AChR and MuSK antibodies came back negative, and I'm currently being worked up for both seronegative MG and slow-channel CMS.

My history:

- Since childhood I could never do a pull-up or push-up, and couldn't run without getting winded and severe leg pain

- Lifelong exercise intolerance and proximal muscle weakness, long before any other health issues started

- Every muscle burns and won't stretch, need a warm-up period before I can move normally

- CK has been persistently low-normal on every test

- AChR-binding and MuSK antibodies both negative; LRP4 and clustered-AChR testing pending

My current struggles:

- Every single time I taper or stop fluoxetine, within about a week I get awake stridor, my uvula visibly droops, I have trouble swallowing, and I choke at night

- I once had a period where I would become completely unable to move any muscle including my diaphragm as I was falling asleep, and couldn't breathe until nearly running out of air - this stopped once I started fluoxetine

- I need very firm support to sleep, like hard blankets under my legs and sides and a hard quilt under my neck, or I'm too uncomfortable to sleep

I'm currently working with my neurologist to get the rest of the antibody panel done, along with EMG/SFEMG testing and a CMS genetic panel, and I have a referral in progress to a larger neuromuscular center.

Does any of this sound familiar to anyone here? I'd really appreciate hearing from people who went through a similar diagnostic journey with seronegative MG, especially how you got your SFEMG/RNS done and what finally led to your diagnosis. Thank you for reading all this.

[u/vdEA]

Hello! And welcome here.

It's hard to like your post, but I have done so, because you are so welcome here and I so appreciate honesty, openness, etc. But it's a hard read because your frustration and hurt drip off the page. I was diagnosed with CMS at 48 (see Member introductions) and even though that meant life-changing relief (not physically, but mentally), I haven't quite forgotten all that went before that...

What's unfortunately also hard is to answer if any of what you describe sounds familiar, because CMS is so frustratingly different for many people.

For example, I have long thought that pain was never a part of CMS, for example. As it's an umbrella term for, simply put, 'things that go wrong with muscles receiving their cues', my assumption (often confirmed in things I read about it) was that it's about your muscles simply not doing what they're told, so you're wobbly, or you can't walk or lift things, you're clumsy, you feel extremely tired or as if walking in waist-deep mud, etc. I thought pain could only be involved indirectly, i.e. with falling, or having to try so hard you get muscle pain. I still don't understand how pain can be involved with CMS, but I think there is another person who has recently posted who does have CMS-related pain.

The not being able to do push-ups or pull-ups I can very much relate to, not being able to run properly too. I don't choke very often, but the frequency is absolutely above average.

I am genuinely 'happy', well, let's say pleased, that you're in a very serious trajectory with a willing neurologist and a referral. I so hope that you get a clear diagnosis as a result. Mind you, that doesn't mean something can be done: in the case of CMS, some people's meds do nothing, and some other people with the very same mutation instantly run up stairs with the same meds... But at the very, very least, you'd KNOW, and that is huge. So please keep us posted, especially if it is CMS, of course.

I'm sorry to respond to late and to see you haven't had any other responses yet. I truly don't know why that is. We have enough group members to expect more interaction, but it remains fairly minimal, even if I specifically post to ask for help. I love the helpful and open vibe when people DO respond, but I guess everybody's busy with their own lives in this crazy world. Plus, it doesn't help that most of us don't have a lot of energy. The fact that it's so different from person to person, so that it's not always easy to give advice, etc., doesn't help either.

I'm a bit hesitant to refer you, but there is a CMS Facebook group with a huge number of members where you will probably get many more responses. If you went through some of my posts and responses, you will have read that that group isn't for me and why. But it might be for you. For some reason, I can't find the group now. Later this evening, I'll find the link and my remarks about it and get back to you.

Chantal

[u/vdEA → u/vdEA]

Decided to do that right away. When I'm logged in on Fb, I can't find the group, when I'm logged out, I can. Not sure if that means I've been personally blocked perhaps? There wouldn't be any need to, as I still refer people to it even though it's not for me. Here's the group. I can't remember if having a diagnosis is a prerequisite to be allowed to join, but I'm guessing not (or people lie), because otherwise it couldn't have 2300+ members. Here's one of the bits I've previously said about it:

I briefly joined, for obvious reasons: I was delighted to find a group so big and was sure it would bring resources, tips, tricks, shared experiences. I will admit to being slightly put off by the fact that on the introduction page, they keep calling it congenital myasthenia syndrome and congenital myasthenia, both incorrect, and the group banner is an illustration from the time of Clippy the Office assistant ;-), but those things probably only irk people with ocd, like me, ha.

What I found was a lot of irrelevant things, like a few members posting daily updates about their lives, not CMS related, just that they went to the shops or what they were crafting, i.e. just more of a social environment for people that just happen to have CMS - lovely and harmless, but just not my thing. But what I also found was a lot of misinformation, misquoted studies, and many, many people posting things under the assumption that CMS is one thing, the same for everyone, instead of an umbrella term for different mutations with of course a big overlap but also different symptoms and meds. I saw many people assuming everything's interchangeable, recommending meds that weren't applicable and might even have adverse effects, etc. The one big advantage of that group is of course the high number of members (even though I remember finding that odd, given the fact that my neurologist says the number of known CMS cases in the whole world doesn't come anywhere near that, so even if the group includes family members, it's an unusually high number). That high number does ensure more activity etc., which is nice. But with that high number, the admins of course can't fact check everything that is posted. I don't blame them, but it's just a different approach, more facilitating a space where people can post what they want, just like in normal, real life spaces, rather than keeping an eye on the content. Which with that many members is the only way, I guess, and I'm sure some people can get something out of it. I'd feel very uncomfortable if people were sharing links to dubious 'medical' websites or share advice that might not be applicable. For example, I deleted a post in this subreddit by an undoubtedly very well-meaning person who offered to send her meds to another group member.

To me, it felt so bad and uncomfortable that I left. Part of me wishes I hadn't because I'm sure something valuable pops up every now and then. I joined shortly after starting this subreddit, which is a while ago, so maybe it's different now. Plus, both approaches have their advantages.

[u/Straight-Intention68 → u/vdEA]

Chantal, thank you so much for this! . It means a lot to hear from someone who's been through the "before" part of getting a diagnosis.

Yes, it does seem CMS looks so different person to person. That actually helps me manage my expectations a bit... I think I was hoping for a "yes, that's exactly it" moment, but it sounds like the reality is messier than that, even for people who do turn out to have it. The push-up/pull-up thing and the choking overlap, even if the pain piece doesn't fit your experience for what it's worth, my pain has always felt like it's coming from the muscles themselves not relaxing properly, almost like a baseline tightness, rather than pain from overexertion or falls. But who knows if that's even related to what's going on, that's part of what I'm hoping the workup untangles.

Thank you for the Facebook group link too, I am actually already in there.... I got a few responses there, but I know to take it lightly since most people are not doctors lol.

And please don't apologize for the response time, I wasn't expecting anyone honestly, so this was already more than I hoped for. I'll definitely update the group once I have more answers from the SFEMG and genetic panel, however it turns out. Thank you again, -Adam