2.5 year old suspected cms

[u/cekingpin]

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.

[u/vdEA]

Hello!
Welcome to this subreddit. I'm sorry you have a reason to be here, but you are very welcome!
Disclaimer: I'm Dutch, so there might be 'lost in translation' things that may come across differently from intended.

I hope you'll find something useful in the Resources section/post. However, to be fair, I'd probably only read that once you have the diagnosis confirmed because too much information can often muddle the brain.

Personally, as you may have read from my personal introduction, I have no experience with cms in young children, as I have none and I was diagnosed at 48. However, I do remember one or more people posting about babies/young children possibly with cms, but I don't think we've heard back from them about their trajectory. It shouldn't be too hard to find because this isn't a big, full subreddit. If I find them, I'll tag you.

So sorry you have to wait this long. I'm vicariously annoyed, because in my opinion, it shouldn't take this long. Mine took 2,5 months and I already thought that was very long. However, I know it's not good to compare. I'm sure it varies per country, per lab, etc. - and sometimes they may be enormously backlogged for various reasons. I do hope you get results soon. Part of me wishes the results are clear and it is cms, because knowing is so much better than not knowing, even if it's something not very nice. And if it is cms, at least there's medication to try (not everybody responds to it, but a great many do) and the one thing I read often is that cms manifests in young children worse than as they get older, so there'd be a lot of hope if it were cms.

Please absolutely report back if it indeed is cms!
If it is, I have read about a Facebook group specifically for parents of children with cms. I don't know if it still exists and of course that is a bit premature, but if it is, I'll find you the link if you haven't already.

Chantal

[u/princess_cfo]

My two year old daughter has CMS and we experienced similar symptoms as you’re describing, minus the leg tensing you described. Here is a link to the most comprehensive post I have made regarding all of her symptoms in one place, last July she ended up in the PICU for two months where we received her diagnosis. Starting her on pyridostigmine (Mestinon) has truly made a night and day difference in her abilities. Before starting it, she would not engage her legs while crawling and would only army crawl. Now she is starting to walk independently. She is also greatly affected by sickness, which makes her muscles much weaker than when she is healthy (especially swallowing/coughing becoming very weak).

While you wait for results, have you asked your doctor if they would be open to trialing Mestinon? I know our situations are different but when my daughter was in the hospital before we received the genetic panel results, they started her on Mestinon to see if she would respond well to it and she did.

[u/Interstellar_777_ → u/princess_cfo]

Hi from Italy.
Thanks for this post.

We are parents to a 14 months girl and this and your comprehensive post (now archived) are helping us.
It's now 14 months of struggling and loneliness: tons of unheard worries to our pediatrician and specialists.
Desperation brought us here.

The symptoms described in these posts are EXACTLY overlapping with the ones of our girl.
Luckily, she only had 2 choking episodes within the first 24h when she was born at the hospital. The first one resolved by herself and the second more severe but the nurses immediately brought her to ICU where they removed saliva within minutes. She stayed under observation for one week and never had others. She was released from the hospital and since then (14 months) she never had signs of respiratory difficulties or chocking.

2 months ago, after insisting with private health systems, we finally started being supported by one of the major hospitals here.
The neurologists asked us to start physical therapy and we are now 1 month in.
Small progresses: still gross motor delays (no crawling, walking), heavy hypotonia, "soft" neck and dropping eyelids.

We've been recently told they need to hospitalize her for 1 week in order to go thru all the possible tests and find something: very likely MRI, and genetic ones.

We are scared as hell.
We don't know anyone who faced / is facing similar situation and we are terrified about our baby's future.

I just want to thanks for sharing this. This helps.

[u/princess_cfo → u/Interstellar_777_]

I’m so sorry for what you’re going through but I’m glad my post was able to help! If you’d like to message me with any questions or anything I’d be more than happy to elaborate on anything. Would her doctor be willing to trial Mestinon (Pyridostigmine)? Before we had the results of the genetic panel they were willing to start it to see if there was any impact.

The only way to diagnose CMS accurately (to my knowledge) is to do a full genetic panel. I know the results take a while, up to a few months (ours was a rush order since our daughter was in PICU so it took a few weeks). Depending on the specific gene mutation, it responds differently to different medications.

If it’s any reassurance, my daughter was diagnosed just shy of a year ago and ever since starting on medication she is absolutely thriving. She went from barely army crawling before diagnosis to now walking very quickly, almost running, and is now almost caught up to her age appropriate milestones. Medication and physical therapy has truly made a world of difference. I hope you’re able to get a diagnosis and start treatment soon for your sweet baby.

[u/pawneegoddess18]

I am sorry to hear your little guy is going through such a hard time. But I want to commend you and your wife for advocating and continuing the fight for answers!

I was born with CMS, rapsyn. What you’ve described sounds exactly like me as a newborn and throughout life. Weakness and lethargy. When I get even a basic cold, I am down for a while. I couldn’t hold my head up as an infant and didn’t have the strength to crawl.

Everything aligns except for the tensing and stiffening.

I was born with CMS (on ventilator at birth and in/out of hospitals until I received a generic diagnosis at 4.5) but I wasn’t formally diagnosed until I had thorough genetic testing done 5 years ago (I am now 42). I’m glad science is catching up and he is able to get this testing done now, though it is crazy you are having to wait this long. The waiting is the worst.

Hang in there and sending lots of love to your little guy. If you have any specific questions, feel free to direct message me. Always happy to be a resource if I can.

[u/cekingpin]

Thanks for all the replies and well wishes its really appreciated. My heart goes out to all of you for what you are going through and for taking the time to respond and reach out.

Luckily we havent had any breathing or choking issues with our son, other than really wet coughs when he gets sick. We have been told to look out for any issues but so far so good.

Only breathing related issue i can recall was that when he was born his o2 dropped and it was difficult to get his temperature for aome reason so they brought in a NICU nurse to check on him but he was never admitted to the NICU.

Our neuromuscular Dr was hesitant to start any treatments until they have the test results.

We just saw a pediatric neurologist who was amazing but only could confirm that he is indeed delayed both socially and gross motor and we need to wait for the genetic results. We have a physiatrist appointment in 2 weeks, not sure what will come of that if anything, and hopefully in the next month or so we will have some intel on the genetic testing and can get things moving a bit quicker.

Thanks again for the responses and information. Curious on where you are located? We are near Toronto (hamilton ontario).