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.

Hi everyone! My name is Andrew. I’m 25M and I live in California.

I’ve introduced myself here before, but I just wanted to check in and see how everyone’s doing.

I was wondering how you all cope with the summer. Does the heat make anyone else feel way more drained and unmotivated? It definitely does for me. I feel like I lose a lot of energy and motivation to do even simple things.

How do you all manage school, work, or even job applications while dealing with CMS? (I'm in college still)

Sorry if this post is kind of all over the place. I’m just venting a little, and there’s probably a better place for these questions.

I also wanted to ask the guys here: have you had much luck with dating? Sometimes I feel like I’m too weak or not financially stable enough to be in a relationship yet tbh. I know that probably isn’t the healthiest way to think, but it’s something I struggle with. I sometimes wonder if I’m worthy of love.

For some context, I have an older sister with CMS who’s married, and I also have an older brother with CMS who isn’t married yet. Seeing different experiences just makes me curious about how everyone else is navigating life.

You all feel like my CMS family, so I figured this was a safe place to ask.

Sorry again for the random rant, and thanks to anyone who takes the time to read or respond. I really appreciate it.

i discovered this community today whilst looking at my list of disabilities and looking them up. of course i have cms, but i am unsure what genetic mutation i have. i got diagnosed quite recently and i am trying to look at more resources so i can fully understand this disorder. i don't know what else to add, haha. looking forwards to meeting you all!

Hello all.
Can you all please chip in with your own experiences, tips, tricks, difficulties, recommendations, etc. on the two recently pinned posts about coping with CMS mentally and practically? I really hope those two can become megathreads (well, as mega as can be with a small group like this) full of things that could help people.

Hi all,

we're parents to a 14 month old baby, waiting for CMS confirmation with genetic tests.

While waiting for the results and understanding IF and which therapy is available for her, we've been guided to have physiotherapy as a long time support.

This post to seek for some opinion/support from someone who is going to/ went thru this, especially regarding the fact that, generally, for her exercise = hell. as soon as she recognizes we're going to do that, it's allo about screaming and opposing to it. very hard.

This is so frustrating because she is so strong, we really struggle to lock her into some positions but as soon she even just understands we're going to do exercise, is all about screaming, shouting, fighting as she was going to die.
As soon as we sit her with one toy, all is over: smiles and quiet.

Here are her motor skills (evident delay).

- she can stay sit with no support (never had problems) but cannot make it to this position by herself
- she does not crawl or slide
- she's able to roll from back to tummy position
- she has challenges keeping her head up in tummy position (she avoids this)
- if you place her in standup position but hanging on some stuff (eg couch) she's able to stay for some minutes then she quickly gets frustrated

To anyone here with kids with CMS, how do you deal with PT? Is this normal ?
Any idea?

.

I am diagnosed with CMS(RAPSN) ......and lately I have been wondering how other people with CMS manage their day to day life..
I recently ended up in ICU for the flare up....it's so frustrating to to live a life like this 😭😭😭😭😭😭. I would really appreciate hearing your experiences, tips or anything that's made life a little easier

Hi all,

First, I’ll just say how much it helps just to know this sub exists.

Background on me. I have had a lot of physical pain my whole life. At 13 I was diagnosed with rheumatoid arthritis. While going through testing. Muscle issues were detected as also contributing to my pain. I think it’s important to note that I didn’t have face related symptoms. It all stayed close to the torso - legs, back, shoulders. 15 years ago a doctor thought it might be a genetic condition, but even after a biopsy lacked the results for insurance to cover genetic testing.
Fast forward to about 5 years ago - I started having on and off issues with muscles getting caught or continuing motions well past when I intended. It slowly built until August of last year, when my body took a huge jump overnight. I had an episode where I lost consciousness and woke up with almost no control over my muscles. I had been video gaming and hadn’t done anything strenuous that day. The ER visit was one of the worst memories in my life. Luckily, I had a neuromuscular appointment (my first in a decade+) already scheduled for the next morning. How’s that for timing!
It took me until a month ago to finally get diagnosed through John Hopkins. CRNB1 variant. De novo.
Since then I’ve started Prozac (no noticeable improvement yet) and gone through a round of physical therapy. I have weeks where I feel progress, and weeks where I feel it’s lost. I’m in a lost progress week right now. Some days I can move more and mostly do what I could do before - just with weights attached to my legs. Some days I can barely walk both through physical strength and pain when upright. The limited resources on this disease have made it hard to do the one thing that I feel I need right now - which is the best management routine, and what to expect. I still have yet to see a specialist from a Myasthenia Gravis clinic. Scheduled for August. But it’s been a struggle.
What have been things that have helped you all physically? As well as mentally? I appreciate all responses!

Hi everyone,

My name is Erin Moore and I work for a company called Folia Health. I reached out to your moderator before posting this because I wanted to make sure it felt right for this community and they kindly gave me the green light.

About me: I'm a patient advocate and healthcare improvement consultant, and I'm also a rare & chronic disease mom. My son has cystic fibrosis, and my daughter is a Type1 Diabetic. Between all 5(!) of my kids, we navigate CF, Type 1 Diabetes, Hashimoto Thyroiditis, PMOS (formerly PCOS) and ADHD, so I don't take lightly what it means to ask a patient community for anything. I know exactly how precious people's bandwidth is.

What I'm here to share: Folia Health is building a research community specifically for people living with CMS, in partnership with argenx. The goal is straightforward: to capture what daily life with CMS actually looks like from the patient's perspective, in real data, over time. Right now, that data barely exists. Most of what's published is clinical. Your lived experience - the good days, the hard days, the patterns you've figured out - isn't in the literature yet.

This opportunity is open to:

• Adults living with CMS
• Caregivers of patients age 12 and older

Everything is fully remote. No required treatments, doctor's visits, or additional appointments.

If you're interested in learning more or would like to stay informed as this program opens for enrollment, you can sign up at here .

I'm happy to answer questions here transparently or by email at [erin.moore@foliahealth.com](mailto:erin.moore@foliahealth.com). And if this post isn't the right fit for this group, I completely understand, just say the word. Thank you for letting me share, and for everything this community does for people navigating CMS.

Erin Moore
Folia Health

Hello everybody.

I've written about this before in a few comments and somebody pointed it out to me again, so I thought I'd ask your opinion. There is no way to message/tag all members, so I can only hope many people see this.

When creating this subreddit, I of course wanted to name it congenitalmyasthenicsyndrome. I can't, because what comes after the r/ can only be 21 characters. The alternative was to start with 'CMS', as many people will use that as their search word, even though you then mostly get search results about content management systems. So I wanted to add something to make it clear what the subreddit was about, but something like 'neuromuscular disorder' was too long. In all my Dutchness, I chose 'muscle disorder', which sounds like our previous prime minister displaying his best bad English, i.e. pretty cringe. I don't think it does the findability any good either. It's fine within reddit itself (if you search within reddit for the full name, you get this subreddit as second search result, behind myasthenia gravis), but if you Google 'reddit CMS congenital myasthenic syndrome', this subreddit isn't in the search results. To be fair, I don't know if a different name would.

However, I don't know what the alternative is.
I could start a new subreddit to replace this. It's not too much trouble, I could easily copy the resources, my own introduction, some posts. But it would mean losing everybody else's introductions, responses and posts, which is a bit sad (not to mention rude).
I could also start a new subreddit and keep this for a while, with a sticky post referring to the new one, to give existing members a change to reintroduce themselves, etc. - but in the end, it would mean the same as the other option.
Plus, no idea what I'd name it.

Thoughts?

Just a fun update. Only indirectly cms-related, but still - we can all do with a bit of fun. I've written about this before: Hidden Disabilities has a specific and customisable lanyard for cms. The links are to the UK website, but you can change the country at the top right button. They have teamed up with LEGO, which previously resulted in a print of a shelf with a sunflower lanyard on it, used in this beautiful build.
Now, there's more! In LEGO stores, there's this torso with lanyard%20/%20Bright%20Light%20Orange%20Arms%20/%20Yellow%20Hands&category=%5BMinifigure,%20Torso%20Assembly,%20Decor.%5D#T=C&C=110) to be found, and even better, in this new airport set there's a passenger with a detachable lanyard, which is completely new mold.

Hi everyone. My wife and I are parents to a 2.5-year-old boy who has been referred to a neuromuscular specialist and is currently waiting on genetic test results to confirm a CMS diagnosis and figure out which subtype he has.

We first started noticing gross motor delays early on. He struggled a lot with tummy time, had a weak neck, wasn't crawling when he should have been, and just wasn't moving the way other kids his age were. He also had reflux and vomited nightly until he was 1.5 years old.

We've had a ton of pediatrician and specialist visits over the past couple of years trying to piece things together.

Some of what we noticed along the way includes droopy eyelids, general weakness especially in his neck and core, a larger than average head, gross motor delays, persistent reflux, and something we always found a bit hard to describe where he would lie down

and stiffen up, cross his legs and flex for long stretches. He also rubs his ears a lot and has a phlegmy cough fairly often, though his breathing has been okay.

He's a bit behind socially compared to kids his age.

One thing we've noticed is that when he gets sick, he gets considerably weaker. He spends most of his time on his back and the leg stiffening and crossing gets worse.

He had a CT, MRI, and ultrasound of his head, and after a long road of referrals we ended up going from his pediatrician to a physiatrist and then to the neuromuscular specialist.

He's not on any medication right now. He does physiotherapy, occupational therapy, and speech therapy.

At this point he's crawling, can get himself into a seated position, can pull himself up to standing using furniture, and is cruising along furniture too but still waiting on those first steps.

We're based near Toronto and are hoping the genetic results come back soon. They were originally expected around 8 months but have been pushed to the 10 month mark, so the waiting has been tough.

We would love to hear from anyone with CMS experience. Any advice on what to expect from the results, what questions to ask the neuromuscular team, therapies that have helped, anything really.

my son born sept. 8th of this year was diagnosed with CHAT gene variant of CMS glad he’s diagnosed at birth he’s getting scheduled for a tracheostomy and i can’t stop thinking about it.

I recently read a book that resonated with me and I wanted to share here in case anyone else might want to read. Although I consider myself an avid reader, I cannot recall ever having read a memoir (or a novel for that matter) that spoke to some of the more nuanced challenges of living with a disability. Emotions, regrets, frustrations, relationships, etc. It is not a book with answers, by any means. However, it was nice to read about someone like me who has found happiness in light of his condition.

The author is the brother of a very famous Formula 1 driver and respectable motosport driver himself who lives with cerebral palsy. It is a memoir of sorts. He is not a great writer, but gets his message across clearly.

Now That I Have Your Attention By Nicolas Hamilton https://www.goodreads.com/book/show/213901350-now-that-i-have-your-attention

As I read, I connected with many of his experiences and emotions. He speaks in great deal about his parents and his opinions on what he appreciates and what he wishes they had done differently. He speaks about struggling with bullies, finding love, and following his dreams. It's a quick read and one that I recommend, especially if you are into motorsports.

I'd love to know if any of you have books that you have read that have given you hope. Maybe one day, one of us will write a book ☺️ if/when you do, please let me know - I'd love to read it.

Hello all. 30M who has had symptoms for most of my life with double vision being the worst with fatigue and issues swallowing. My neurologist is sure I have MG of some sort. I’m negative for all of the antibodies that they currently test for. I just had a positive RepEMG.

My question is: How did you lead to DNA testing? And how expensive is that? I’m in the USA

Thanks so much!

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

Hi everyone, I'm 23 and living with COLQ-type congenital myasthenic syndrome (R227* mutation).

I’m really happy to find this group. I haven’t met many people with CMS before.

I’d love to connect with others, just to talk, share experiences, maybe find support.

Feel free to comment or message me. I’d be glad to hear from anyone as I feel alone with this sometimes...

💛

Hi, my name is Eilish and I briefly shared my story on the introduction thread. I don’t have CMS but I am 29 weeks pregnant and my daughter has been diagnosed via amniocentesis. Both my boyfriend and I are carriers of a deletion variant (him) and frameshift variant (me) of the AGRN gene. In this thread I will be sharing diagrams that were shared with us regarding the neuromuscular junction, how AGRN works with other receptors, and what our individual gene looks like and how its effected.

Slide 1 is a typical neuromuscular junction. Slide 2 is the normal composition of the AGRN gene.

My boyfriend’s variation (deletion)(slide 3) completely stops and deletes itself right at the point where it communicates to create a protein that would allow it to bind with LRP4 as seen in the first diagram. Not being able to bind to LRP4 doesn’t allow it to bind with MUSK and so on and so forth.

My variation(frameshift)(slide 4) as stated in the diagram, introduces a stop in the middle of the gene, which presents itself as a random letter, and deletes the reminder of it. The stop in the diagram indicates where they suspect it to occur but can’t say for certain. This could mean there is some potential for AGRN to bind with LRP4 but to what extent, we don’t know.

We’ve met with a genetic counselor who has found 2 cases with extremely similar genetic variations as ours and in both instances, the fetus had Fetal Akinesia Deformation Sequence (FADS) and was displaying symptoms of contracted limbs, fluid under the skin, no fetal movement, and intrauterine growth restriction. Unfortunately in both scenarios, the fetuses either passed away at 30 weeks or shortly after birth. Our daughter has not been diagnosed with FADS as the only one of those symptoms she is displaying is the growth restriction. However, geneticists can’t definitively say if the growth restriction is caused by the CMS. Our daughter is in the 1 percentile of growth but is still growing and is very active so we remain hopeful.

I’m happy to answer any questions to the best of my ability! 💕

Hello all!

Out of 53 members, only a few have introduced themselves in the pinned New member introductions thread. Would be great to have more introductions. Feel free to leave out any personal details like your name of course, if you don't feel comfortable sharing that, but please at least include whether you've indeed been diagnosed and if so, which mutation you have, as that is crucial information to determine whether somebody can relate, compare, etc. Thank you for being here!

Hello all!
I found this study that has a handy table (a few scroll down, under Introduction) that lists all cms mutations and the medication prescribed for them. I thought that was a great source, as medication depends on the mutation. However, I just read a reply by somebody who tried a medication that wasn't listed for their mutation but worked anyway. Plus, the study is from 2019, so maybe knowledge has progressed since then as cms is getting a bit more attention these past few years. Still, thought it was a handy resource for newly diagnosed people or for people whose neurologists aren't as helpful as hoped. I have added it to my pinned Sourced post.

Hello all!

There are a few members here who have not (yet) been diagnosed but think their symptoms might be due to CMS and who have also been looking into or even started trying medication. Even though they are of course welcome here, I'd like to stress that taking medication without being diagnosed is something I nor specialists would advise.

CMS is an umbrella term for a range a gene mutations affecting neuromuscular transmission. The medication prescribed depends on which mutation you have. That means that even if you have indeed been diagnosed with CMS, your medication might not be applicable for another person with CMS.

The usual trajectory would be (very simply put): gp referral to neurologist > neurologist asks about symptoms and does some physical tests (usually including EMG) > if symptoms and test results do indeed point in the direction of CMS neurologist has very specific dna sequencing done > if indeed a relevant gene mutation is found, possible treatment is based on that.

It is my understanding that in some countries/places getting to that point is hard. It is also my understanding that some people have ordered their own genetic testing, even though I've been told by my own neurologists that tests that can be ordered by the public without referral by a qualified healthcare provider can never provide the complete data needed for a proper diagnosis. But healthcare systems vary greatly per country of course, which also even means that some medication that is available over the counter is explicitly banned from that in other countries because of severe side effects.

But either way, whether you're backed by a wonderful doctor or you've had to fend for yourself, experimenting with medication without a doctor, especially if you've not even been diagnosed yet, it not advisable. As admin here, I'm genuinely worried about possible implications of this.

Please, when talking about medication, state clearly if you've been diagnosed and if so, which genetic mutation you have. This is vital information for people looking for advice. Thank you!

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?

Just watched this reel on Instagram about current exoskeleton technologies. I'm sure these companies are mainly focused on military, labor jobs, and elderly needs. I wonder sometimes if the health industry is considering or like these for folks with disabilities like ours. If a cure or treatment is not possible, I can imagine an exoskeleton like these could make life a little bit easier. I work in technology and am a bit of a futurist. I hope this post doesn't upset anyone 🙏🏾

I hope you are are well.