Hypotonia in children - Page 3

[eliang]

Great thread

Thanks for this thread. My dd is 12 months and was dx with "motor hypotonia" at 6 mos when she wasn't meeting milestones. She can sit well now but can't crawl, can't bear weight on her arms or feet really, and is generally slouchy and floppy all over. But she's cognitively fine, it seems, and even her fine motor skills are okay (she feeds herself and picks up things and even throws balls across the room). We've been to geneticists (for several levels of screening for genetic disorders), a cardiologist (to test for connective tissue disorder via echo and EKG), and neuromuscular specialists (more blood work, and most recently an EMG and nerve conduction test- interesting, they tested me too for Type I myotonic dystrophy, which might not show up on her little body but would show up on mine). All negative, which we think is good (ruled out a lot of disorders, some pretty scary) but the dr is frustrated b/c he wants a "real" dx. I happen to think he's right--that there is something there but there isn't a test for it yet. But I don't really care as long as she keeps developing, even if slowly. And that's what's happening...she can spin in a circle now while sitting, which is huge for us. So I still worry all the time--will she ever crawl, walk? Will we find out that there's some other problem? But I'm very glad to read other stories and it feels good to share mine too.

[Smithie]

"As an aside, outside of treating his metabolic stuff the absolute best thing for my son's tone was horse riding."

We just took ds to his 4th horseback-riding lesson. The OT suggested it , and he loves it.

Are there any specific tests that can be done to determinine if there are underlying metabolic issues?

[MetasMom]

Originally Posted by Smithie

"His PT lady says hyptonia does not diappear, you just get to a certain level of ability which can be helped by therapy but you'll never be 'equal' to someone without hyptonia."

As far as I understand, muscular hypotonia has nothing to do with muscles being weak. It's a slow communication between muscles and brain via nerves that causes the "weakness". You can build up strong muscles to make up for slow response but of course there is no cure.

I wouldn't try to compare someone with and without musc. hypotonia, using words like "equal" or "not equal". You know, a redhead will never be equal to a brunette - true enough, but does it matter? Do you understand?

[coreybreeze]

I think she was just quoting her lo's PT, but I think I get your jist.

[sbgrace]

eliang, I'm glad you found us!

Smithie, yes there are tests. Unfortunately (but understandably) most doctors and pediatricians know nothing or next to nothing about metabolics. It's a complicated field. So it's best to see someone who knows what they are doing and looking for as many here have experienced that going to the wrong person (even in the field) is unhelpful and even misleading. But the umdf.org site mentions initial labs for testing mitochondrial issues. The urine and blood tests are generally done intially and, if it safe for the child, they are done under overnight fast conditions to put the body under a bit of stress. But in general I think a good start is a fasting if safe: urine organic acids (ours were sent to Kennedy Krieger for analysis), Carnitine and acyl-carnitine blood tests, and blood amino acids. But if you're going to get the urine and blood anyway a full work up is best. And many would say add in lactate here too...I left that off just because a lab who doesn't run it often would probably mess it up. Best to see a specialist recommended by someone here as good. If you were only going to pick one test I'd say urine organic acids as that isn't invasive and hopefully would pick up a lot. I suspect it's a general starting point for many non-specialist doctors and if something is caught it can be very helpful. But our main helpful test was the acyl-carnitine and carnitine levels and I know of others too were that was the first abnormal finding..it would often pick up issues with fat metabolism.

[OMama]

Thanks for this thread. My 19MO son Finn also has hypotonia (and ataxia) due to a vascular anomaly in his cerebellum, which was removed last summer. It is an on-going journey. I have seen an improvement or rather a "lessening" or decrease of his hypotonia, so I hold out hope no matter what others say. I doubt he will ever be the world's greatest soccer player; I'm just hoping for relatively normal function. No walking yet, and he can't stand independently yet either. But he has made some huge gains!!! At 11 months he could still barely sit independently and didn't start (commando) crawling until about 14 months or pulling himself up for that matter. His PT says the hypotonia can decrease and she talks about how as his muscles get stronger, this will help him as well to overcome his challenges. He can eat relatively well, but his speech is delayed, as is his ability to drink from a cup. He also still drools, but this has lessened as well. He is a great nurser and always has been. Again, I hold out hope. I'm not sure what the future will be, but I still picture "the best."

[bits and bobs]

I wouldn't try to compare someone with and without musc. hypotonia, using words like "equal" or "not equal". You know, a redhead will never be equal to a brunette - true enough, but does it matter? Do you understand?

I agree-I just meant that his PT views it as not being 'curable' in the sense that he won't be a relative physical par with his peers.

Bits

[MetasMom]

Originally Posted by bits and bobs

I agree-I just meant that his PT views it as not being 'curable' in the sense that he won't be a relative physical par with his peers.

Bits

That may be true. In my case, I was doing better than my peers in gymnastics because I was a lot more flexible (and still am). Don't let those comments get to you!

[WriterMom2be]

I'm worried about hypotonia in my child after brain trauma but my Dr seems to just blow it off saying, "it's just low muscle tone, nothing to write home about".

Last month my 6 week old's stroller fell down the stairs and he suffered a skull fracture and bleeding in the brain. We were told that he was fine and he was discharged from the hospital. Before the accident he held his head up when on his stomach, had only a little bit of head lag when pulled into a sitting position and could hold his head up with a little bit of bobbing when you sat him up to burp him. He was developmentally ahead and could almost roll over at 3 weeks. Now he can't lift his head up during tummy time and his head falls to the side when you burp him. His head touches his back when you do the pull to sit test and he makes no more attempts to roll. I thought it might be a neck injury since no one tested him for one in the hospital--they were only concerned with his brain.

Why is the neurologist not concerned? She won't test for a neck injury. My pediatrician was so concerned about his loss of milestones that he sent us to the specialist.

I want to ask her what does poor muscle tone mean, why did it suddenly occur after the accident? Why would a child lose milestones if you don't think it's from an injury? Will it go away? She acts like she doesn't believe me that he has lost ground, says "some babies just have low muscle tone and fall developmentally behind." She acts like I'm an idiot when I try to talk to her about it and won't give me the time of day so I will never get those questions answered.

[sbgrace]

Originally Posted by WriterMom2be

I want to ask her what does poor muscle tone mean, why did it suddenly occur after the accident? Why would a child lose milestones if you don't think it's from an injury? Will it go away? She acts like she doesn't believe me that he has lost ground, says "some babies just have low muscle tone and fall developmentally behind." She acts like I'm an idiot when I try to talk to her about it and won't give me the time of day so I will never get those questions answered.

You've run into a horrible doctor. Lots of them out there and it seems like more when you get into specialties. You need to see another specialist. Can the pediatrician write up a statement that the baby was doing those things prior to the accident for the new doctor? Don't waste anymore time with this one.

Was this a pediatric neurologist? Where are you located? Maybe someone will know someone good. I would probably contact early intervention for a physical therapy assessment.

[Mr T & Princess P]

I am glad this thread is here and so glad another mom told me about it.

After reading the previous posts, I realize how fortunate we are. My dd was diagnosed yesterday with hypotonia at 16 weeks. This is the 4th doctor I have taken her to, this one is a pediatric GI. The general ped and 2 GPs kept telling me there was nothing wrong, she is fine. The specialist yesterday knew within seconds of touching her that all was not well.

He told us right away that she has hypotonia and then went on to explain that he will be looking for an underlying cause. He said some pretty scary things, cerebral palsy, cystic fibrosis, etc. He also indicated that sometimes it can be a diagnosis all in itself. We have x-rays, sweat test and lab work at Childrens Hospital next week.

She seems to have a lot of similarities to some of your los. Lazy eater, early weaning (on bad docs advice), not reaching milestones already.

I originally went to him because of poop issues though. My dd does not go on her own and hasn't since she passed meconium. She has gone unassisted 6 times in 16 weeks! My 12 week old nephew does that in 1 day (lol). We do suppositories when she becomes uncomfortable. Once she does go, it is thick green sludge that smells so very foul. She will occassionally pass a chalky white solid mass shaped like a plug. Once this passes, we have a big pooh storm and all is good for several days. She is formula fed now because of weight loss and FTT, but her stool was like that even when she was only breastfed. Do any of you have experience with this?

I would love some advice from some of you moms out there that have been through this. We have 'caught' this really early from what I can tell and I'd love to benefit from your experiences. If you could go back to the 4 month mark, what would you do? Any recommendations?

[WriterMom2be]

Hi,

I'm located on long island. I'm going to talk to my pediatrician again. I don't think the pediatric neurologist works with babies much...there were no toys in the waiting room and the receptionist said, "oh you're the one with the baby." It seems like she mostly deals with school age kids on ADHD meds (there were all these signs on the wall about how she can't call in ritalin or adderall and you need a week notice on refills).

Anyway, I like my ped a lot so hopefully he will have answers for me and can give me another specialist to go to. Thing is, he sent me to his hospital's pediatric neurology dept. He really likes them and works with them so I'm not sure how to say I don't care for their lack of concern.

What I'm getting from them is a wait and see attitude. I don't want to wait until he falls more behind before looking for an underlying cause or starting PT. So maybe I should just randomly pick a practice from my insurance book and hope for the best.

[2bluefish]

Originally Posted by Mr T & Princess P

I originally went to him because of poop issues though. My dd does not go on her own and hasn't since she passed meconium. She has gone unassisted 6 times in 16 weeks!

Juju went through a spell of not going on his own. We set aside a bulb syringe for the purpose of loosing the anal spincter so he would go. We did this a couple times a day, because if his bowel was full he would not eat. But he's started going on his own again since we started solids. We also thicken his formula with oatmeal, cause he eats better when we do that. I'd try making him go more often and see if the quality of the poop changes to be more normal. Chalky white and thick green sludge would be very concerning to me.

[sbgrace]

Originally Posted by Mr T & Princess P

I originally went to him because of poop issues though. Do any of you have experience with this?

I would love some advice from some of you moms out there that have been through this. We have 'caught' this really early from what I can tell and I'd love to benefit from your experiences. If you could go back to the 4 month mark, what would you do? Any recommendations?

What to do? You've done it! You kept going until you found a doctor who would take you seriously and you found that person when she was so young!! Yay! I agree with the doctor that you need to uncover the underlying issue. And given the other issues (the poo thing is concerning) I think ruling out the things he mentioned are a good first step. If he comes to the point where you're told it is benign or a diagnosis all itself or you don't find an answer on the poop through this testing come back. I really truly don't believe hypotonia is ever a diagnosis by itself and your little one has too many issues to just assume hers is. So at that point you'd want to look into other specialties for answers and someone can help with the who to see if you don't get answers through this initial testing. But the poop thing in my mind is going to be a big clue into her diagnosis but I don't want to speculate on the possible causes. You're getting testing. I will add that metabolics can affect the bodies urge to poo if nerves are affected. So there are lots of options outside of the ones he's mentioned.

If I could go back to the four month mark I would have kept fighting to find an answer (ours turned out to be metabolic and we didn't find that until my son was 3.5). Outside of that and treatment for that condition PT and hippotherapy (horse riding) were helpful to us. I so wish I could have just enjoyed my son instead of the constant worry, lack of answers, and issues. It was so stressful. I think having answers even if I didn't like them would have helped me so much in that way. So I hope you get answers soon. Meanwhile know you are doing what you can and do enjoy her.

[Mr T & Princess P]

I can feel the support of this thread up in here in Canada! Thank you ladies.

When you are refering to metabolics, what does that mean? I must admit I am a little clueless on much of the lingo.

I am very encouraged by this new doc. He is a pediatrician and has specialized in digestive diseases. He is doing a lot of testing in the next while, including a biopsy, stool samples and cultures. I was a little overwhelmed by all the things he was saying, so I didn't quite catch it all, but he said someting about testing for how she digests fat and protiens. We are back in 2 weeks for a follow up and first round of results. We are also trying to fatten her up and have calorie loaded her formula to see if we can help her gain. This seems to have the added benefit of getting her to sleep for longer periods!! Yipee!!

[lil_stinkyfeet]

Originally Posted by WriterMom2be

Hi,

I'm located on long island. I'm going to talk to my pediatrician again. I don't think the pediatric neurologist works with babies much...there were no toys in the waiting room and the receptionist said, "oh you're the one with the baby." It seems like she mostly deals with school age kids on ADHD meds (there were all these signs on the wall about how she can't call in ritalin or adderall and you need a week notice on refills).

Anyway, I like my ped a lot so hopefully he will have answers for me and can give me another specialist to go to. Thing is, he sent me to his hospital's pediatric neurology dept. He really likes them and works with them so I'm not sure how to say I don't care for their lack of concern.

What I'm getting from them is a wait and see attitude. I don't want to wait until he falls more behind before looking for an underlying cause or starting PT. So maybe I should just randomly pick a practice from my insurance book and hope for the best.

It sounds like you are doing great, keep pushing. Have you contacted Early Intervention? I would contanct them, they will come to your house and do an eval for free. If you are not comfortable with your neuro I would definately find another one! I have felt the same way about mine, but unfortunately he is the only one around.

[MetasMom]

edit because already said

[Emma_31]

Hi ladies.. I found these boards while googleing hypotonia. DD was diagnosed with hypotonia at her 6-month checkup. She is a preemie, 34-weeker. We are seeing a neuro on Jan 6, but the physiatrist our pedi referred us to doesn't have an opening till April 6!?!?. I'm now trying to find another physiatrist and see if they can see us sooner than that.

Also, I saw many of you mentioned the Early Intervention Program. I'm in Florida and I called them 3 days ago, and they told me we can only qualify if DD doesn't have private insurance (she does, through my DH). What is your experience?

Thanks and looking forward to getting to know you all.

[UptownZoo]

Originally Posted by Emma_31

Hi ladies.. I found these boards while googleing hypotonia. DD was diagnosed with hypotonia at her 6-month checkup. She is a preemie, 34-weeker. We are seeing a neuro on Jan 6, but the physiatrist our pedi referred us to doesn't have an opening till April 6!?!?. I'm now trying to find another physiatrist and see if they can see us sooner than that.

Also, I saw many of you mentioned the Early Intervention Program. I'm in Florida and I called them 3 days ago, and they told me we can only qualify if DD doesn't have private insurance (she does, through my DH). What is your experience?

Thanks and looking forward to getting to know you all.

Welcome to MDC! This is a great community and you'll find lots of help and information here.

You'll probably get more responses if you start a new thread. This one is pretty long already.

[sbgrace]

Originally Posted by Emma_31

Also, I saw many of you mentioned the Early Intervention Program. I'm in Florida and I called them 3 days ago, and they told me we can only qualify if DD doesn't have private insurance (she does, through my DH). What is your experience?

Thanks and looking forward to getting to know you all.

Welcome!
Every state is different but that is not at all consistent with early intervention in states I know of.
http://www.cms-kids.com/earlysteps/ I found this link which leads me to believe it isn't true in Florida either. Perhaps call the 800 number on that site and ask for clarification. Perhaps they bill insurance if the child is insured but it sounds to me as if they do provide services.