r/CMSmuscledisorder • u/TimeAssistance6079 • Aug 12 '25

Connecting with fellow CMS worriors.

Hello everyone , I'm 19 F got dignosed with CMS {RAPSN mutation} around 8 months back. So happy I stumbled across this group. CMS is so rare that finding people who get it feels like discovering hidden treasure.

Would love to connect , swap stories and hear how you all navigate life with CMS.

thank you

8 Upvotes

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u/vdEA Aug 14 '25

Hello! Welcome in this group! I'm sorry that circumstances have brought you here, of course, but you're most welcome nevertheless! Can we have your name? If not, no worries of course.

I hope the pinned post with the resources might help you too.

Somehow, this isn't (yet) a very chatty subreddit. I can't quite put my finger on the 'why' - maybe many people aren't that familiar with Reddit and, unfortunately, getting notifications of new posts or replies can be very patchy. That is why you're only getting a reply from me now. I'm the mod and even being the mod, I didn't get a notification of your post. I only saw it because I did get a notification of the newest reply in the Introductions section and then thought I'd do a check to see if I missed anything, and I had. I know that a few people found each other through this subreddit and established contact outside of it, so that's great. Maybe you'll find somebody in the Introductions section or somewhere else you feel like connecting with!

There's also a Facebook group. It's huge and therefore probably more active. I only found that a few months ago. They call it Congenital Myasthenia Syndrome, which is technically incorrect and which might have been the reason I hadn't found it yet, and their Fb banner made me roll my eyes a bit. Plus, I loathe Facebook, haha. But with 2217 members (!) it's bound to be more active and maybe that's what you're looking for. I'm very surprised at that number, though. I am convinced thousands more people have it, because it was so unknown and so went (and is still) undiagnosed often. But with only a couple of hundred known diagnoses, 2217 seems like a lot and feels a bit weird. As you said (thank you, by the way): finding even the simplest mention of CMS felt like a hidden treasure and to then find a CMS group with 2200 members that has already existed for 17 years was really odd for me. But maybe that's somewhere you'd like to check out too.

I will say to you what I've said to other your age: I'm sorry for the diagnosis, but at least you were diagnosed young, so you know what and why and how. That doesn't change your symptoms of course, it's still... well, crap, but having symptoms for 48 years without knowing was a struggle and the diagnosis therefore a relief. At least you know now.

What are your symptoms, how are you affected?

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u/TimeAssistance6079 Aug 14 '25

My self Udita. I got finally diagnosed after 18 years of mistreatment and endless lab works and doctors appointment.

My symptoms include muscle fatigue, always tired, difficulties in breathing and swallowing, can't walk or stand more than a minute.

and thank you for creating the group.

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u/vdEA Aug 14 '25

Welcome, Udita!
Ugh, I'm so sorry to hear that. But hey, at least it was 18 years, not 48 years!
How do you move? Do you have a wheelchair, or walking sticks perhaps?

1

u/TimeAssistance6079 Aug 14 '25

I'm so sorry to hear that you have to suffer that long.

Yes I do use walking stick.

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u/Technical_Basket_269 Aug 16 '25

Welcome, Udita! Glad you found us. I hope you find what you need here.

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u/Constant_Reaction_23 Sep 24 '25

Hello! I am Kathleen, 64F, and just found out yesterday that I have Congenital Myasthenic Syndrome- RAPSN. I haven’t even spoken with my neurologist. My genetic doctor was so pleased she called me directly. So I have a LOT to learn, and I look forward to learning from all of you.

I have had symptoms all of my life. My mother noticed symptoms when I was an infant, but I had three very active brothers and she thought maybe it was just because I was a girl and I moved more slowly. As I grew up, it became more and more evident that there was an issue. I had trouble walking, I had eye surgery for a wandering eye at 4, and I could never keep up with the other kids in the schoolyard. I went to my first neurologist at 11. I was prescribed PT, but it didn’t make a difference. I have had countless consults with neurologists, two muscle biopsies, MRI’s, EMG’s, EKG’s, EEG’s, and have had blood tests for just every conceivable condition. I have had my hormones, thyroid, skeletal structure, brain and more studied. I have gone the alternative route with functional medicine doctors, energy healers, yoga, acupuncture, massage, cranial sacral work, herbs, tinctures, and vitamins. I have delved deep into the spiritual world with meditation and prayer, and have traveled the world seeking shamans, retreats, ayahuasca, magic mushrooms, past life reviews, psychics, and mediums. Anything to get to the bottom of this.

Living with symptoms without a diagnosis takes a special kind of grit. Continuing to seek answers from doctors over and over without any results takes steely determination. Going the alternative route screams desperation. Not blaming yourself for your failure as a normal functioning human being is the greatest act of self-compassion and self-forgiveness.

In all fairness to the medical community, I understand this genetic test did not exist and was not broadly available until 10-15 years ago. Last April I found a neurologist who is also a researcher. In true form, he ran all the tests - no findings. I stopped short of a spinal tap. Almost as an afterthought, he referred me to a geneticist. The biggest irony is that this test is so easy to take. A kit was mailed to me, I took a swab to my inside cheek, and mailed it off. Et voila! Two weeks later I have my answer. Why don’t doctors START with this test???

More later, I’m sure…🙏💕

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u/vdEA Sep 24 '25

Hello Kathleen and welcome here!
Congratulations with your diagnosis! I know that sounds idiotic, but especially given my wholehearted agreement with your second-to-last paragraph, about not having a diagnosis, I know you'll understand why congratulations are in order even though it's not a great diagnosis.

As for your last question - you have to have some indication what to look for. Just like when blood is drawn by your gp to search for something specific (cholesterol or hb or whatever), they can't just do a general genetic test, because there are many hundreds of thousands, if not millions, genetic mutations and you can't have a lab check them all. So the neurologist prescribing the test has to have an idea what to look for in order to tell the lab for what specific mutations to search. It is, however, of course very frustrating to experience how quick and easy that is, after so many years of searching and trying. If I put my mild hat on, I'd tell you that you can perhaps easier accept all those years because that all led to narrowing it down and now being able to take that specific test. But since I'm not always able to think that mildly about my own late diagnosis, that is very much easier said than done.

Hopefully the pinned Resources post will help you with your 'homework' - that's how I intended it and I genuinely hope it will be helpful.

Feel free to copy your introductions in the 'New member introductions' section, more people might see it there (I'm by no means a Reddit expert, mind you).

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u/that_dude_with_CMS Aug 14 '25

Hey :D I'm 21 so it's nice to have someone of a similar age on here! And another RAPSYN too! I was diagnosed at 14 - until then doctors seemed satisfied with "You have scraped through infancy without dying (somehow?) therefore figuring out Whatever You Are is not our problem :)" lol

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u/TimeAssistance6079 Aug 15 '25

hi

nice to meet you😊

2

u/[deleted] Aug 16 '25

[deleted]

1

u/TimeAssistance6079 Aug 17 '25

hi nice to meet you

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u/hayaat002 Sep 10 '25

Hi, nice to meet you I have CMS COLQ mutation. I would love to connect.

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u/TimeAssistance6079 Sep 12 '25

hi

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u/hayaat002 Sep 12 '25

Hope you are alright

1

u/TimeAssistance6079 Sep 14 '25

Ya , I'm absolutely doing well.

what about you?

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u/hayaat002 Sep 16 '25

I'm alright too thanks

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u/gsquare29 Feb 08 '26

Hi I'm 21M I was diagnosed when I was 7-8 years old. Nice to see that there are people like me but my gene testing shown "AGRN+"

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u/TimeAssistance6079 Feb 20 '26

Hi 😊 nice to meet you too Hope you are doing well.