Just recently had a baby(March 23rd), he has hypotonia in his arms (biggest symptom)and also his neck, and we (children’s hospital) are trying to figure out what is going on.
I know it could be multitude of things but we are slowly ruling things out. He had an MRI done this morning, but I find myself obsessed with wanting to know and wanting to help our precious wee man.
Dad also has chiari, so I was wondering what other people noticed in their newborns who ended up having chiari.
Thank you, We need all the support we can get right now, I’m scared to death for him.
Hi, Nikki.
I am so sorry your baby and family are going through these difficulties. I wanted to let you know you have my moral support. I am sorry I do not have some specific feedback for you, but it’s my hope others will share any experiences. Please keep us posted on any progress.
Hugs,
Laurie
I know its trite to say take it easy as it can be a multitude of things, many of which can be handled or the little guy will outgrow. But really its true.
How did the MRI go? Thats a tough thing for a little guy, and Moms too.
As far as Chiari goes, it could be but usually you will see it in the hips as well when laying on their back they have "frog leges with hips adducted and knees flexed.
Congenital myotonia in male off spring almost always comes from the mother (not dad) Mom. I'm wondering if you have been examined? Mothers are typically only mildly affected and unaware of their disorder. Mothers with myotonic dystrophy may show grip myotonia, percussion myotonia, ptosis and/or distal weakness that they were unaware of.
The good new is that when it shows up with in the first few days of life, its often metabolic disease. If the guy has a good appitite and is sucking well that generally precludes diseases of the neuromuscular junction.
Right now the concern will be evaluating organs and organ systems. I assume you are at The Children's Hospital of Eastern Ontario? It is an incredible facility with great connections, a tad weak on metabolic genetics but they have connections. Their work on genetic neuropathies, ataxias, and muscle disorders is incredible. I don't know that you could be in a better place.
Although this will take some time, it will get sorted out. One of our Senior Mods is pretty involved with that facility. She is presently in the middles of the Atlantic ocean on a cruise ship on her way to Gibraltar and then up to England for a reunion. I'll fire her an email tonight and she what she can tell me. It will be a few days before we hear.
Sorry I am just seeing this, or I would have responded sooner. It will ALL work out just hang in there.
Wow, you really know what your talking about TJ1
No word yet on his mri results (appointment with neurologist isn’t until May 07th)
We got a call from Cheo on Monday, and they said one of his urine tests came back abnormal,so they have refered us to a metabolic doctor at cheo. So I wait… (still by far the hardest thing I’ve ever had to deal with) hoping there is no irreversible damage being done until our appointment in about a month they said. Then I’m guessing from there it will still take lots of testing to get a proper diagnosis.
Any advice? You seem like you are in the “know” of what’s happenening, and all this metabolics is very new to me, and very confusing all at the same time. (Of course I use google any chance I get)
I'm afraid the metabolic stuff is beyond my understanding except the very basics. What I do remember from way back was a prof telling us that having babies is an awful lot like baking a cake. They tell you to bake it for 20 - 30 minutes when it comes out of the oven, it may or may not be done. babies are the same they are supposed to be in the oven 37 - 42 weeks. When they come out sometimes they are "done" sometimes they aren't. Trouble is we can't put 'em back in. So we have to help get 'em done. It almost always works out. Metabolisnm and lungs are the last things to get done on little ones because Mom is doing all the work.
I Really apprieciate your responses. What you have shared with me is more than I knew, so it does give me hope, and has opened my eyes to a positive side of this whole situation, and that helps me a great deal. The not knowing and Waiting is difficult, so thank you for sharing what you do know.
Hey Nikki, My young lad (he is 14 now) was born with Chiari. We noticed little things that were not necessarily medical but discussed them with the dr anyway , like fine motor skills were not on target, He had a hard time keeping his head still enough to reach things. He had low sensitivity in his body so he would squeeze things extra tight to feel them...beware if you have animals....they don't enjoy that, we noticed he didn't walk if he didn't have to (and he walked late due to dizzyness and just in general clumsy chiari) but would stretch out on his belly to reach things. He was in general very quiet and didn't like loud noises......so we had white noise machines in every room. He preferred to be swaddled or wrapped over being in a stroller....The dr's told us it was because he was jostled less when wrapped. He was constipated....constantly. He wouldn't eat and still doesn't anything out of a can....He tells us stuff from a can tastes very metallic and always did. He couldn't handle shirts with thick seams being around his neck. It gets easier on us mom's because we learn very quickly what helps our little ones and what doesn't. Baths helped a lot. We put our young lad in a laundry basket (the kinds with holes so the water could flow) in the tub, as he got older with epsom salts to help his relax at the end of the night. I know you are scared. But.....it will be ok. Just breathe.....and be patient with yourself.....because you are learning too.
Hi, Nikki.
How are you and your new little guy doing? I am thinking of you both.
Hugs,
Laurie
cheri can u explain to me about holding things so tight please? My 10 month old was just diagnoised last month with chiari and shes always had great grip since shes been born. thank u I would really appreciate it.
Hey Donna. We noticed my young lad…when petting our animals would hold them super tight and when petting them would rub the hair between his fingers then push hard to pet them. He had numbness in his hands, and fingertips and just wasn’t able to feel the fur, so he would squeeze. I know that kids can be rough with animals, and he wasn’t. He didn’t hold them wrong, or treat them rough, he tried to feel their fur. Even to this day…on on a bad day, when the numbness sets in, he finds himself petting the cats or dogs a little harder then normal and has to remind himself to ease up.
Cheri did ur little one do that to the animals or other things? my little one squizes things so tight that her fingers turn white its hard to know how shes feeling since she cant tell me yet. how did u know when something was wrong when ur lad was young?
He squeezed and still squeezing everything. He gets numbness in his hands often and will drop things, it can be embarrassing for him. So no glasses or glass plates, unless it’s someone else’s turn to do dishes! Lol. Everything is a white knuckle grip. If something has a texture, it can be hard for him to feel it (especially on bad days),so he uses extra force to feel it. Lots of little things just didn’t seem right, my mom radar kept going off, he didn’t have good mobility, couldn’t crawl without tipping over, didn’t try to stand or walk until he was well over a year old. He choked a lot. His eyes did a weird rapid movement like he was trying to watch a spinning room. He didn’t sleep (my god he still doesn’t sleep a lot), white noise seemed to help, drown out the constant hummmm of the house. He couldn’t handle certain fabrics on him, and on other days he couldn’t handle anything. Seams would irritate his nerves. He cried. Not the hungry cry, or the I’m wet cry…just a moaning cry. He loved to be swaddled so he couldn’t roll around, and to this day he still tucks himself in tight, he says it helps with the dizzy spells. Fine motor skills were slow. Feeding himself was hard. i have an older daughter, and even though I know you shouldn’t compare…he just wasn’t hitting the milestones at all. My mom radar was just telling me something was off. The dr’s knew something was wrong but we live in a rural area, and no one had heard of ACM. So we ended up in a children’s hospital over 2 hours from home, they diagnosed him there. I do want you to know though…that My young lad is awesome, he has a great life, with awesome friends. Yes he has really bad days and even weeks, he misses some school…but he has a good life. Having our kids get diagnosed with acm is uber scary…my god my world stopped, but it starts up again, and they turn into terrible twos…and cranky teens.