Discussions By Condition: I cannot get a diagnosis.

Undiagnosed 22mth old - can anyone point us in the right direction?

Posted In: I cannot get a diagnosis. 7 Replies
  • Posted By: weegie
  • July 18, 2011
  • 00:18 AM

Our 22mth old daughter has had problems since birth. We were told when she was 6days old it was highly likely that she has a syndrome or condition. We still don't have a diagnosis and feel very frustrated and hurt by this. Can anyone put the symptoms together and suggest what condition she has? Please?

Birth and the first few weeks - Born at full term. Struggled to keep her temperature up. Very floppy. Admitted to Special Care Unit at 5days old - poor suck - low sats - required oxygen for 3weeks. Pale and small optic nerve - eyes not focusing. Described as having hypotonia. CPK levels normal. Tummy button hernia. Described as having genetic markers for a syndrome or condition - wide set eyes - flat nose bridge - high palette.

Since - reflux - vomiting, frequent chest infections, had a bowel intersussection at 13mths corrected by surgery. Eye sight started improving at 3mths and is almost normal now.

Tests - 2 videofluroscopies (1yr apart) shows a poor swallow and slight aspiration but she manages to clear this before it enters her lungs - all fluids are thickened. MRI normal. Chromosome testing showed no deletions or duplication. Various blood n urine tests showed nothing.

Milestones - held head up on her own 7mths - rolling onto side 11mths

Now - if put in the sitting position can sit for a good period of time did this at 19mths - can't push herself into sitting position. Can roll over - clap hands - pincer grab. Can't stand, crawl or walk. Can take weight through legs when supported. Her muscles seem to work fine - she can kick her legs very hard, push me away, pull her sisters hair! However, it doesn't all seem to work together. She can say dada and make noises and do some animal sounds and is learning some sign language very well.

She is a lovely child and we have great support from physio, OT, speech therapist and development pead but we really want answers now - anyone?

Sorry its so long but I wanted to include as much info as possible

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7 Replies:

  • As if my last post wasn't long enough here's more - she has "noisy" breathing on and through the day and night. And always has a really bad cough which we do physio to help clear her chest. She is well above average height and weight for her age about the 97percentile.I also want to get across that she's a smart wee cookie, very smiley and happy.
    weegie 2 Replies Flag this Response
  • Hi there, I really hope you find out what your daughters syndrome is. I wanted to share my own story with you in case its some how helpful one day to you. My daughter was born too with a syndrome (a different one to what your child has). We did a ton of physio but we ended up being told by doctors that she'd never walk due to her neurological and muscle issues (she was 2 years old by this point) but we werent about to give up so just kept on taking her to various therapists. She was 2yrs and 4mths when she finally took her first step (with an aid..she used a walking sticks and later a walking frame) she still couldnt crawl and would drag herself across the floor on her butt. She thou had a lot of issues with her body coordination (neurological issues and muscle weakness) couldnt coordinate to crawl or walk. A chiropractor ended up teaching us how to do cross crawling exercises with her. We did those, her laying on her back with us moving her arms and legs in coordination while she layed on her back for an hr a day every day (she really hated it!!). http://www.headbacktohealth.com/Cross_crawl.html She did end up walking in the end and was walking a bit by 3 years old and not dragging herself about at all by 4 years but it was a long and slow process, year by year she kept improving right throu primary school (she used a wheel chair at times for long distances up to high school age). Nowdays as an adult.. she dont need a wheelchair at all and gets about okay (thou does have an odd walk due to her muscle weaknesses and a spinal issue). I think if we hadnt done those cross crawling exercises (even thou she tried to fight us when we did them with her) she would of never had walked and those doctors would of ended up right. She would of been wheelchair bound for life. Anyway.. I wanted to share my story with you.. please stay hopeful and dont give up as you dont know what the outcome may be.. with time she may get better and better if the time is put into her. I wanted to share about cross crawling in case you havent heard of it as to us, that is what gave my daughter gift of being able to walk. best luck in finding answers.
    taniaaust1 2267 Replies Flag this Response
  • Thank you so much for sharing you and your daughters story. It's really heartening to hear the progress she made. I've never heard of cross crawling but it sounds really intriguing and I'm very interested. We already do physio at home everyday so fitting cross crawling exercises in would be no problem.Thank you again.
    weegie 2 Replies Flag this Response
  • sorry I notice i made a mistake on my post.. we used to do 10mins of cross crawling exercises with her per day.. but her complete daily physio sessions in which we included that were 1 hr per day (as we had other stretching exercises with her too as she had also a club foot etc). I think the following was the very last time she actually had to use a wheelchair http://s1190.photobucket.com/albums/z458/taniaaust1/?action=view¤t=Kastinainherrainbowwheelchair.jpg
    taniaaust1 2267 Replies Flag this Response
  • I watch alot of mystery diagnosis and im pretty sure ive seen this before however, I can not think of it I would definitely look into seeing a pediatric neurologist a pediactric endocrinrologist pediatric gastronologist a pediacric pulminary. and an infectious disease expert
    Anonymous 42789 Replies Flag this Response
  • My daughter turned one last week. We have been in to see Neorology, endicronoly, neuro-opthomolgy, etc. We are in the process of having genetic testing done. Our daugher has pale optic nerves and hypotonia. At 12 months she sits well and rolls over but is not scooting, crawling, walking, or talking. You mentioned that your daughters optic nerves were small and pale at three months but now she can see fine. At what age did her vision improve? Was it a gradual improvement over time? Not knowing what’s going on is very difficult. I know how you feel.
    Anonymous 42789 Replies Flag this Response
  • I really hope you find out what's going on with your daughter too. My daughter has hypotonia and was diagnosed with Optic Atrophy as well. They said her optic nerve is pale in color. She just turned one and isn't crawling, walking, or talking yet. We've been in to see neurology, endocrinology, neuro-opthalmology, etc… and we're now in the process of having genetic testing done. Question, you mentioned that at 3 months they said your daughter had a pale and underdeveloped optic nerve but that now her eyesight is nearly normal. At what age did you start noticing improvement in her vision? Was it sudden or was it gradual over time? Nobody has been able to tell us what is wrong with our daughter yet either besides that she has hypotonia and optic atrophy. At this point we’re still not sure what she can or can’t see but are hoping her vision continues to improve. Any info around this would be much appreciated. Have they looked at your daughters optic nerve recently? Does it no longer appear pale? Did you see vision improvements after the age of one?
    Anonymous 42789 Replies Flag this Response
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