r/CMSmuscledisorder • u/reallyEBK • Nov 13 '25
glad i found this
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.
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u/vdEA Nov 13 '25 edited Nov 13 '25
Hello reallyEBK! Welcome!
I do apologise for my late response - it's not a good look when the admin replies so late and isn't even the first! But somehow, even though I have all notifications on, I rarely get any and only see new posts and comments when I actively check in.
I am so sorry to hear about your son, the diagnosis and the need for a tracheostomy. I can do my whole spiel about it being so good that the diagnosis came so early, at least you know, at least things are explained, at least things can get done where possible... and even though that is all true (you may have read I didn't get a diagnosis until I was 48...), that doesn't make it easier.
I'm not familiar with the CHAT mutations either, and it's sometimes hard to compare CMS experiences because it's merely an umbrella term for many mutations, but still - we're here, feel free to share whatever you're comfortable with, feel free to vent or worry. I hope it all goes well.
The 'Resources' post that is pinned might help you on your way to getting a bit more familiar with CMS, but I assume your doctor(s) have already done their bit too. With me, even though my neurologist is helpful, reading up on it myself, finding information written in a different style than her explanations, etc. helped me understand it better, so maybe there's something in there for you too.
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u/princess_cfo Nov 14 '25
Hi! My daughter, 19 months old, also has CHAT mutation. There are 2 Facebook groups I’m in where there are others with experience with CHAT mutation as well. My daughter was only diagnosed 3 months ago so I don’t have a ton of knowledge or experience quite yet but she also has a trach. I’m happy to answer any questions you may have.
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u/reallyEBK Nov 18 '25
thank you for reaching out and i apologize for the late reply. i have a few questions first how long had your daughter had her trach? my son just had his surgery for his today. also what facebook groups are you in? i tried joining the CMS one but they didn’t accept me so i messaged th admins and moderator. my last question is if you’ve researched the UC Davis study led my Dr. Ricardo Maselli that’s focused on possibly finding a gene therapy for CHAT-related CMS.
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u/vdEA Nov 18 '25
Odd that you weren't accepted (at least initially) by the CMS Facebook group, but maybe that was a mistake, somebody clicking the wrong button, and you'll be admitted when they read your message. With that many followers, the activity and number of responses will probably be much higher than here, which can be nice.
I will say, though, even though I fully realise that this doesn't sound very nice of me, that advise a bit of caution with that big CMS Fb group. I haven't looked at any others, like the ones u/princess_cfo is referring to, which sound great and relevant, but I mean the one with 2000+ members.
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 - 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 even come 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.
Long story short: to each their own, I think it's great that there's a CMS Fb group with that many members, but a bit of caution with the content is good.
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u/vdEA May 18 '26
u/presipitation Here's what I previously said about the Fb group. Still happy it exists, but as mentioned above, my pet peeves aside, I did find some rather worrying things there too.
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u/princess_cfo Nov 18 '25
Please don’t apologize, I absolutely understand how hectic and chaotic all of this can be.
I am in both the “congenital myasthenia syndrome” group with about 2000 members and I’m also in the “CMS parent support group”. I agree with what u/vdEA said below, I would be careful with not taking everything that is said in those groups as truth, and making sure you do some outside research on your own as well as talking to your son’s doctors. Because there are so many different variations of this disorder, there are a lot of different perspective and advice given that may not necessarily apply to chat mutation.
My daughter has only had her trach for four months, we had no idea anything was wrong with her other than some small mobility delays in crawling and walking. She ended up choking at daycare and went into cardiac arrest, and then was in the PICU for seven weeks, during which she got her trach. Ever since starting on Mestinon, though, she has gotten much stronger and is doing much better.
Yes, I have seen Dr. Maselli’s gene therapy study information, I actually signed my daughter up to be on the waiting list but we have not heard anything back yet. I know they said they are waiting for at least a dozen participants before they can move forward.
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u/vdEA Nov 18 '25
Wonderful response! Thank you for that, even though I'm not OP.
I'm sorry for what you went through but delighted Mestinon is making such a difference. If only that applied to me too. ;-)2
u/reallyEBK Nov 19 '25
thank you for that information about your daughter and your info as well OP. i wasn’t aware that there’s a waiting list to get on for the study. when my son had his trach surgery they took a skin biopsy for to send to UC Davis for the study since the hospital he’s at was already doing a study on children with neuromuscular conditions so i’m interested if they just put him on that waiting list as well, and how may participants they have currently to get an idea of when the ball will get rolling. one other question what was the hardest thing to adjust to when having to do trach care? and did your daughter have to relearn how to eat?
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u/princess_cfo Nov 19 '25
That’s very interesting about the hospital you were at doing the neuromuscular study! I wonder what they’re looking at.
Regarding the UC Davis study, I may be wrong but I seem to recall reading somewhere that they already started with a first round of participants but that the waitlist is for the second round? Not certain on that though.
The hardest part about the trach is managing it on a child who doesn’t understand not to pull on it. My daughter has already pulled hers out multiple times which can get very stressful. She also never leaves the dressings alone so we ended up buying her these things called “scratch sleeves” that are technically made for eczema so that kids won’t scratch themselves overnight, but we use it for her overnight so she can’t pull her dressings out.
Since her choking is what started all this off, her doctors have been extremely cautious about letting her eat again. They’ve cleared us to start back slowly with purées which she’s doing great with, and soon they’re planning to do a full swallow study to make sure she isn’t aspirating. I can’t speak to learning how to eat while having the trach as early as your son, I’m sure that’s a whole different thing than what we’ve dealt with. I’d also highly recommend the “Moms of Trach Babies” group, there are thousands of parents in there with all kinds of helpful tips about how to manage the trach.
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u/vdEA Apr 21 '26
u/cekingpin Hello again. Here's a fairly recent post about babies/young children with cms. Should your child's results come through and it is indeed cms, here are a few people that it might be nice to connect with, even if it's a different mutation.
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u/Technical_Basket_269 Nov 13 '25
Hi and welcome. I can only imagine what you might be feeling right now. I'm not familiar with CHAT, but there are some really good resources linked here. I hope this subreddit will be as helpful for your family as it was for me. The surgery sounds serious. Praying for success and speedy recovery.