Undiagnosed severe hypotonia

[Ash0908]

My daughter is just a few days shy of her first birthday. She has been an absolute joy since day one. However, she is a big mystery to me and her father, as well as to all of her many doctors. I knew somthing was wrong immediatly after she was born, I guess just a mothers instinct. The doctors assured me she was fine, and I coudnt put my finger on what wasn't quite right. She was extremly quiet and laid back. Didn't make a sound after she was born- an extremly content and happy baby. Nothing seems to bother her. When we brought her home from the hosp I noticed that she had no stepping reflex. She couldn't bare any weight on her legs. She was diagnosed with benign congenital hypotonia around 3 months old. She has a very small head in realation to her body, dev delay, upper GI problems, a history of respiratory issues, has a lot of mucus build up in which she has a very hard time manageing and coughing up (she usually has coughing fits in which she tiurns blue before she's finally able to cough some flem up) - these fits are usually very violent. I've just recently realiuzed just how severe her hypotonia is. She cannot hold a bottle, sit up, crawl, walk, and is very far away from doing the latter. She was able to roll both ways around 10 months - but once u get her verticle there is just nothing there. She sees a ped. Neurologist, GI specialist, ped pulmonologist, PT, OT, ST and has been referred to specialists in atlanta. She has had so many tests - blood genetic workup just recently came back normal. Cpk tests were around 370 and I was informed that it was a little high but still normal, her cystic fibrosis test was normal, mri and eeg normal as well. An endoscopic procedure performed after she spit up blood found the beginnings of an ulceration in her stomach. Biopsies of stomach and esophagus were normal. She was put on carofate and prevacid but was hospitalized again when she couldn't keep her meds down and her condition got worse. They inserted a feeding tube and in a few days we have a follow up to discuss a GI button. No one seems to knw what's going on with her, and this mystery torments me day in and day out. I want answers but I don't knw how to go about getting them. I think she should have a muscle biopsy but the drs don't think its nes rigjt now. What really concerns me is that we may never find out what's going on. I need some insite, and some companionship with just one mother who knws how I feel. I am constantly researching and coming up with no answers. She has been fitted with AFOs, a stander and a bath seat. - due to her not carrying any weight when I hold her - she is dead weight, so I usually use a sling for older babies. I am also very concerned that she will never walk - its almost like she has no muscles in her legs (atleast when she is vertical). However, her reflexes are good. I think I've covered everything and I hope that I am able to get some answers. Thank u so very much for ur time.

[stella2011]

My daughter  (almost 3 yrs) has dyspraxia, hypotonia and sensory integration issues. She was fine at birth, then 4-5 hours later had breathing problems. The doctors never could figure what the cause was.  She never took to breastfeeding neither. We went 14 months before the doctor referred us to  Early Intervention services. She has PT and OT weekly. ST and DT twice a month. I have found the OT and PT to be the most helpful. Two things I would say. Get PT and OT started as soon as possible, and read the book " Why Motor Skills Matter". Great book. Get your child moving. Make the therapist show you the exercises and games to help your child. My daughter started walking at 22 months. PT broke each step to walking down, from the bending of knees, ankles, and hips. She still hates tummy time. But, I push her everyday, and she is making great process. I also give her a bath before and after therapy. It helps to losing muscles. She is given Tylenol and Motrin as needed. I can say it takes you as the parent to make your children reach their potential. DON"T let the doctor wait. Push for the therapy. Also, check out the school district for programs. My daughter with start preschool in the fall. Hope this helped

[myzymi357]

My son was born with muscle hypotonia. Doctors said he wouldn't live to a year.. He is now 3 and speaks two languages. They also told me he would not know who his parents are... Nothing brightens my day more than to hear him say momma... I have had some bad days but at the end of the day I have extreme HOPE AND FAITH for "My Little Giant". I am glad to see I am not the only mother who is trying to find out what the cure is or even if there is one. He is in school (pre-school) and doing well. I have seen him go from not moving to moving on his own. My son is also on a vent, which I didn't see any other parents say that. There was a time he couldn't be off for 5 minutes he is now able to be off for 8 hours.  My advice is to stay on the doctors and continue to pull for your child. I know I will continue to PRAY for mines and yours.. 9*18*23

[duchessxxx]

Hi
I have a grandaughter with it sounds very similar symptoms ,she is now 12 months old still not holding her head up can not sit never crys is blind and now have found she has siezures, she is now going to Bristol childrens hospital for a muscle biopsey and another batch of tests, as every thing they have tested for so far has come back clear we are hoping that we may get a diagnosis from Bristol, will keep you all posted on what happens.
Sending you all positive thoughts for your families.
Duchess

[hope4el]

My youngest daughter, now 12 mo, has severe hypotonia. Early Intervention services of PT weekly and ST starting soon. She is sitting unassisted now for a good amount of time but still hates tummy time and cannot hold her head up long and doesn't crawl or walk. We have seen Neurology, Genetics, and Pulminary. Pulminary was due to her having RSV and Pneumonia and being hospitalized for a month. Since then even simple colds settle into her lungs and make it hard for her to breath where she has needed to be hospitalized for O2. She has had an EMG, numerous blood tests and more with everything coming up normal. We see Genetics again to try and rule out genetic conditions before doing a muscle biopsy. Neurologist thinks he will find something in her muscles rather than brain or nervous system.

She also had Torticollis at birth which coupled with the amount of time she spends on her back due to the hypotonia, caused her to have a flat head and need helmet therapy which is still ongoing to correct the flat spot.

She has constipation since she started baby food but was fine while I was just breastfeeding. I mostly feed her foods that aren't known to constipate - so lots of prunes, pears, peas, green beans, sweet potatoes etc.

I sometimes worry that she won't walk because it seems so difficult but know she probably will - it will just take her a while.

I'm wondering if anyone has ever had a muscle biopsy done? Just wondering the outcome.

[CLEmom]

To Ash,

You could be talking about my daughter who was diagnosed with Congenital Benign Hypotonia at 21/2 years, after 2 years of testing, CT scans etc. She also has a rare lung disorder so she has suffered from respiratory problems along with reflux. When she was two the doctors were happy with how she began to cope with her lung condition. I suppose they meant it was no longer a life threatening issue. As she still had not started walking at this stage all emphasis switched to her hypotonia so she was referred to a neurologist. He basically could not give us any new information.

The good news is that she is now three and has been walking for the last six months. Her physio is very happy with the improvement in her level of tone. She has been fitted with orthotic insoles which help her walking and balance.  Her lung is at its best at the moment too.

She still has so many appointments with physio and her early intervention nurse and various peadiatricians. As she is now pre-school age my big concern at the moment is what her educational needs will be. She also has speech problems. Any comments would be great.

CLEmom

[maureen173]

Hello!  I just wanted to write to reach out to you because I cried while reading your description of your daughter, and the confusion and worry that comes from not knowing.  Almost everything you said is exactly how it has been for my son (now 13 months), except the ulcer and vomiting blood.  I sometimes feel the same way as though he doesn't have muscles in his legs and fear that he may not walk (though his PT and pediatrician seem to think he'll be fine).  I can relate to everything you're going through, and although it seems frightening sometimes, just know that God makes everyone perfect the way they are, and sometimes a "perfect" body doesn't mean anything but that - a body.  My son is also, as you described a happy smiling pleasant baby and everyone who meets him loves him right away.  He brings so much joy to his 3 siblings and everyone who knows him, so I wonder if that is the way it is supposed to be.  He is like an angel.

We have been the neurologist and he gets PT and ST every week, and tomorrow we go to a GI specialist because he hasn't gained weight in almost 6 months, so we are thinking it is somehow related to GI.  I don't know if this helps, but it may be a help just for us to know there is someone out there going through the same thing.  I will be thinking about you and your daughter and praying for the best, whatever form that comes in!  Love, Maureen

[duchessxxx]

Hi Everyone, I have just stumbled across this websight and how glad am I that I did. I do sympothise with you all as I am a doteing Granny of a 5 month old little girl.
I was presant at her birth and like your self I knew straight away something was not right, but the doctors said she was fine, same thing when first born she gave one loud cry and then went very quiet, she still now hardly ever crys and when she does she has trouble with her breathing, had trouble with keeping her milk down and very slow growth
born with the same, Torticallas and flat head on her right side, missed the usuall milestones of smiling at about 6-8 weeks, her eyes started to roll about and she can not lift her head arms from shoulder to elbows although it sounds strange she is a little fidget, always moving her legs, arms and hands, she has had blood tests and now an MRI scan, they also think she is blind although can find nothing wrong with her eye structure, the scan will tell us more, we hope.
I live in England and the doctors here seem to be moving very slowly, and we are getting very impatiante for some answers,I hope all goes well with your little ones, I will now keep reading your posts with hope.
xxx

[Ash0908]

Hi! - so your son is 4 and a half months old? My daughter still cannot hold her head up for a long period of time, and remember she's a year old. When she was 4 months old however, she didn't do much of anything. Just laid there really. She still can't do so many things that some children ur sons age can, so I'm almost certain she didn't do much then. - my only advice to you would be to push hard for any and every test possible for his condition. I still haven't gotten any real answers. In fact, I've heard that a diagnosis for benign congential hypotonia is another name for "we don't really know what she has". And I belive that to be true. Now is really too early to determine what is going on with your son. I've learned that the answers just come in time as more symptoms arise. If I hadn't have pushed for all the tests with her we wouldn't have found that ulceration in her stomach right away. And yes, my daughter does have constipation. Children with hypotonia have weak muscles inside and out - which includes their muscles to have a BM. Also, my daughter is in daycare, and as the days go by, things seem to get worse and worse. So I'm sure ill have to stay at home with her pretty soon. It will ensure that ALL her needs are taken care of. Now a question for you- I'm not sure how this website works, but is a doctor going to read my post and respond to it? Good luck, and I hope you are able to find your sons answers quickly. Thanks for responding. :)

[Tarakauhn]

Hello,
I don't have answers, Infact I'm just finding out that my son has Hypotonia,  Torticollis, and Plagiocephaly. I have a question for you, what was your Daughter able to do at 4.5 mo old? My son still barely holds up his head, and has never been able to bare weight on his feet/legs. Dane has also been a VERY happy smily and laughing baby.. but I'm wondering if I'm looking at what you are going threw? Do you have any advise for a mom who is just starting on this journey? Also.. Should I just count on applying for State Disiblity for this condition with him? I just don't think I could leave him with anyone and trust them to do the exersies with him.

one last thing.. did your daughter have a constipation problem like my son does? The PT said that he has that because of the Hypotonia. Thank you! -Tara