Discussions By Condition: I cannot get a diagnosis.

whats wrong with our baby?

Posted In: I cannot get a diagnosis. 3 Replies
  • Posted By: andrew o neill
  • October 10, 2007
  • 09:18 PM

One week ago my wife gave birth to a beutiful girl. However she (Elena) was born with clubfeet, an almost complete stiffness of the jaw muscle which makes it almost impossible to open her mouth, and the fingers of her right hand are webbed and the hand itself hangs completely down as the muscle (or maybe tendons) from the elbow down to the back of the hand is completely inactive or maybe not even developed. It has also been observed that she does not fully empty her bladder, and quiet often I have seen her roll her eyes upwards. She is at present in a childrens clinic where she is being cared for and where she is receiving daily massages which have succeeded in opening her mouth slightly. Apart from that, all her other organs including her brain are working perfectly and she looks normal in every way save for what I described above. The doctors at this point are still not sure what kind of syndrome this is if it is a syndrome at all. Is there anyone out there that has known or seen a a new born baby with these exact symptons and could therfore give me any useful information on this supposed syndrome which seems to indicate a general muscular problem?
My wife(41) gave birth to Elena 10 days overdue by cesarian and its her first child. My wife neither smokes, drinks or takes any medication and there is no trace of this problem in any of our relatives.
Will appreciate any info on this problem

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3 Replies:

  • congratultions on having your precious little one....it does sound a bit genetic to me....most likely, you will meet the most wonderful surgeons who will be able to help her. You can do a Google search on the conditions. I'm not sure that you are in the United States, but in a few months, you would want to inform your local school district to set up an evaluation (yes, it's called Child Find)....She may need speech intervention and the younger the better. They will provide occupation therapy and all this is free. These are your rights.
    Monsterlove 2921 Replies
    • October 11, 2007
    • 06:11 AM
    • 0
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  • I suggest you and your wife have a genetic workup done, it may point you toward a certain disease. Also,I'm not sure of the TV station...but mystery diagnosis on lifetime or discovery(most stations have a web site), may have a place to plug in symptoms and suggest a possible diagnosis. Congrats on the birth of your baby,I wish you all happiness and good health.
    Anonymous 42789 Replies Flag this Response
  • Have your doctors looked into the possibility of Down Syndrome? I believe that they would need to do chromosome testing to confirm.I am not suggesting your daughter has Down's, but I would certainly rule it out since they don't know. I mention this because your wife is 41 years old.And congratulations on your beautiful baby girl! I hope you find your answers. I wish you well. Beth
    Beth56 272 Replies Flag this Response
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