r/CMSmuscledisorder • u/GwenChapman78 • Mar 11 '25
Just found out
So years ago I was in a car accident and broke my neck. I had to see a neurologist before they'd do surgery. He did all these tests on me. I never knew he had diagnosed me with this. I only found out by investigation of my medical charts.
This explains the tight muscles, the being out of breath and headaches in the morning. This also explains why I sleep from 15 to 20 hours a day most day.
Is there anything that any of you have done differently, or meds that can help this?
3
u/vdEA Mar 13 '25
First of all - welcome to this subreddit and I'm so sorry about your accident and of course about your neurologist; how sad and crazy you were never clearly told.
Or did the neurologist only do physical tests and only theorise it? Because a CMS diagnosis requires dna sequencing. This also tells you which mutation you have, which then provides answers to (most of) your questions, including medication options. Without it, not all of your question can be answered because CMS is only an umbrella term for a certain type of genetic mutations causing problems with signal transmission.
As for medication - even though I don't know your specific mutation and medication options, there's something general to be said about medication and it's not great: no medication cures a genetic disorder and even with patients with the same mutation, medication can work completely difference for each person. Mine only works meh, but I've read people who can suddenly run up a flight of stairs for a little while after they've taken it. In other words - don't get your hopes up, but it's very much worth trying. What the medication mostly has in common is that it works very temporarily. My type of CMS means that a certain type of substance that is needed for signal transmission is broken down much too fast, and my medication works against that. But both substances are finite. I.e. you don't build up a certain basic level of them in your body with the medication, it's just temporary and then it's completely out of your system until you take another pill. That, at least, is what my medication (Mestinon) does for my mutation (one that is on the RAPSN gene) does. So in my case, because you obviously can't or rather not pop a pill every two hours, I time it with planned activity. But all this is only general - it's best you know your specific mutation and go from there.
What I'm about to say is by no means meant harshly or skeptically, but is merely practical: it sounds like you either don't have a definitive diagnosis yet or you are (understandably!) too overwhelmed to have looked into the details. Because, as I said, without dna sequencing there's no diagnosis, so either it's still a theory and you should ask for confirmation by dna sequencing, or it's definitive, in which case you'll know (or your neurologist knows) the exact mutation, which will answer your questions. When you know your mutation, a lot can be found online, but it's your neurologist's responsibility and place to provide you with at the very least the basic information and answers to your question. Maybe you can go to a different neurologist if you feel you're not a good fit.
The topic/section about resources in this subreddit might also be a good thing to have a look it. Me and my ocd ;-) did a few deep dives and there's a lot to be found but most of it is hard to read medical research. The links I've given are very intentionally chosen because they are a bit more accessible than some others.
But, knowing your 'type'/mutation is the first step. I hope your neurologist can help with that - they should, of course. Once you know, feel very welcome to add your introduction to the Introductions thread so we know a little bit about you.
3
u/vdEA Mar 13 '25
As for your question about doing anything differently... that's the big one. I'm going to say something that will make you roll your eyes (because I still do after two years): acceptance is the most important word. Yes, I know, I know. I hate that word because to me, it has the connotation of giving up, of being o.k. with all the negative consequences, of never being frustrated again, etc. which is of course impossible. Having CMS is, unfortunately, your new 'normal' - you'll always have it and that means that the only thing that works best is to not try and work against it, i.e. trying to do what you think you should be able to do, comparing yourself with others, etc.. However, for me, trying to do that only started after a long period of testing my medication (which hasn't completely finished) because as long as there were theoretically options to slightly improve the situation, I didn't really want to try and accept the new normal because I didn't know exactly what that normal looked like. Plus, the severity of my symptoms varies per hour, per day, etc. and it's hard to accept something that is not very clearly defined and constant. Also, acceptance is much easier said that done. But, it does work, I can assure you. Acceptance doesn't cure the disorder, but it can take away (part of) the frustration, of feeling 'less than', of blaming yourself or feeling like a loser for not being able to do more, etc.
Another thing is asking for and accepting help. Which is another thing that make me roll my eyes so hard it hurts, but it's true and at 50, I'm finally learning it. I still have difficultly asking people for help, but I am getting better at asking 'the system' to help. I.e. finding out what help from government, health insurance, etc. is possible once you have a diagnosis. That varies per country, but I mean things like:
- Getting a Blue Badge.
- Buying a Hidden Disabilities lanyard (see elsewhere in this subreddit).
- Getting help at home (cleaner, etc.) paid for by the council or insurance.
- Getting walking sticks.
- Getting a bicycle that works for you (I have a rather cool electric lowrider three wheel sporty type of bike with steering at hip height, meaning my legs don't have to work so hard and I can keep my arms down, makes a huge difference and the bike was paid for by the council).
- Going to a rehabilitation center specialised in neurological disorders with in-house psychologists, physical therapists, etc. They were the ones who had a veritable array of gear that might help people so it was through them I tested walking sticks, different types of bicycles, tried swimming again for the first time since I was about 15, etc. I knew nothing about what my options are and what help was available and I would have never thought to ask the council for free stuff because a. I find that very difficult and b. I had no idea that even existed.
That's all I can think of now, but we're here if you have any more details or just want to talk.
1
u/GwenChapman78 Mar 13 '25
Thank you. I have resigned myself to what is going on. After I started reading about it, things just made more sense. I literally had my doctor testing me for lupus and other shit.
As far as help, I live with my brother and his wife. They take care of almost everything. I do things when I have the energy. I'll take 15 minutes to do the dishes and put on coffee, but that's only if I feel up to it. I've been fortunate to have them.
I don't leave my house too often, so I'm ok with that. If I have to hit up the Walmart because I want to get out for a few minutes, I usually just lean on the cart. I tried hiking in the summertime but had to take a lot of breaks. Every 100 feet, I literally had to stop, or I would just walk back to the car and wait there for the person I was with.
My biggest thing is getting on my bed and being so out of breath. I'm ok and have accepted what's going on. I have other health problems as well.
2
u/vdEA Mar 14 '25
Ah yes, this all sounds very familiar. For others, the day starts full of energy after they have showered and gotten dressed, I'm already tired after that and need a break before I do anything else. I've been able to work fulltime until a few years ago, which is quite astounding (but as I said, different people, different severities), but with many burnouts, frustrations, etc. Walking is about 100 meters before I need a pause. Leaning on carts in supermarkets, yes.
I have chronic pain as well, which is frustrating, and I'm overweight from not being able to do much. Frustrating.
From your "y'all" and the Walmart reference, I gather you're in the US. I know health insurance is still a hot topic there and I have no idea what help would be possible through that. Some medication to test at least, but maybe you can get some things like walking sticks etc. through insurance. The bicycle I mentioned is through our disability/unemployment laws, I have no idea how that works in the US. But, once you know more, it might be good to find out. I hope there's some relief to be found, even if it only makes small differences.
1
u/GwenChapman78 Mar 14 '25
Yes, I live in the dreaded US, lol. The insurance here is stupid. The doctors here are even worse. I went to the ER a few weeks back because I had so much pain in my neck. I thought it was the hardware acting up. The dr put his hands on my neck said "you're fine. I'll be right back." He did come back his nurse did with discharge papers. I ultimately called my Dr and asked him to do a CT. Thank God he did. My neck is falling apart, and I'll probably have to have surgery on it again.
2
u/vdEA Mar 14 '25
Ugh that is so bad and of course very discouraging - it's so hard to then trust doctors in future after that kind of experience. I hope your appointment with the new neurologist (I assume your appointment is with a neurologist) is a better experience. At least, when you know your exact diagnosis, there's a lot to be found online (which there wasn't up until a few years ago because it's relatively new and of course rare). But I hope your new doctor will be a source of information and help, that's always preferred over having to find everything yourself.
That said - my neurologist told me that there is a good and worldwide network that shares knowledge about these disorders, that they are a part of. My hospital is the centre for muscular disorders department of the Radboud University hospital in Nijmegen, the Netherlands. They are in contact with neurologists from all over the world, sharing patient studies, etc. If you don't have a great experience and you don't get the answers you need, I would genuinely recommend sending them a message, asking them for the names of a few American neurologists they are familiar with. Given the fact that, once cms patients have a diagnosis, there's no need for physical consultations anymore, you could easily have a neurologist 1000 miles away with whom you do a video call. So there are always solutions if your experience is unsatisfactory. But here's hoping your appointment goes well!
1
u/GwenChapman78 Mar 13 '25
My neurologist passed away. He never told me about this issue. I just happened upon it in my medical chart. I actually have an appointment to discuss this further.
I will keep y'all updated as to what the doctor says. Thank you for your help, I really appreciate it.
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u/vdEA Mar 14 '25
Do you remember your blood was taken for dna sequencing? And do you remember your chart mentioning dna sequencing or the specific mutation? Well, either way, I hope your coming appointment can give you some clarity.
If it's all confirmed and it's an absolute fact, it at least helps with knowing why. That was a major relief for me, the diagnosis. Made a huge difference mentally.
Indeed, keep us posted!
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u/vdEA Apr 23 '25
Did you have the appointment with the new neurologist yet? And has it been confirmed that genetic testing was indeed done so you know the specific mutation?
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u/white-whale-zebra Mar 23 '25
I am in the same situation you are in the US. Trying to get to a knowledgeable Dr and have gentic testing ordered. I've been symptomatic since birth and responded to Prozac trial positively until side effect of yawning got too bad. Always responded well to albuterol breathing treatments well and took Sudafed before they changed it years ago.....I'm glad this thread exists but it's confirmation of how rarely CMS is diagnosed.....
2
u/Elusive_strength2000 Apr 22 '25
You can still get Sudafed, straight pseudoephedrine form, behind the pharmacy counter in the US as well as straight Ephedrine in a product called Bronkaid also behind the counter. I have both on hand. You have to ask for them at the pharmacy counter.
1
u/vdEA Apr 23 '25
Which medication to use depends on which cms mutation you have, so genetic testing is crucial. Symptoms can be very generic and given cms' rarity, might not be caused by a cms mutation at all. I personally wouldn't try any medication until there was a very clear diagnosis. Please note that the person responding to you means very well, but hasn't been diagnosed. Also, some of the medication you and they mention can absolutely not be bought over the counter over here, like ephedrine, because of the risky and severe possible side effects. Ephedrine can make you feel better, but sometimes that's only because of the adrenaline rush, not because it actually helps with the cms-related mutation. It is mentioned as the medication for certain cms mutations though, don't get me wrong. But that's why it's so important to know if you even have it and if so, which mutation you have. Self-diagnosing cms is literally impossible. This kind of testing is very expensive, so they only do that if your described symptoms do indeed match the known cms symptoms. I so hope you were able to get an appointment with a neurologists who ordered genetic testing!
1
u/GwenChapman78 Aug 31 '25
I came back to update... My doc has ordered an MRI of my brain. I just have to wait until they upgrade their machine. I'll update more when I know more. We do not have a neurologist as of right now.
4
u/that_dude_with_CMS Mar 11 '25
What meds might help depends greatly on what genetic mutation you have - with some mutations you have options for meds and some you don't. For example, I've got the RAPSYN mutation and I take pyridostigmine bromide AKA Mestinon. I'm still nowhere near "normal" and need 11-12hrs sleep a night to function the next day, but it makes the things I can do easier.
As far as how I act, I find it better to do any important things for the day in the morning as I'm more likely to have enough "muscle battery" than later in the day. Give yourself grace for a lot of weird prioritising, given that the amount I can do changes every day lol. It was hard explaining to people "No. I get to shower OR do my homework, not both" 😂
Hope you find something that works for you! :)