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dwarfism

christina

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hello, My name is christina, I currently live in columbus Ohio. I have a daughter, Katelyn, born on april 22 2003, she is currently 4 1/2 months old.. at 37 weeks gestation, my doctor performed a routine ultrasound. and told me that my baby was probibly a dwarf. her arms and legs were measuring approximately 7-8 weeks behind in gestation. he referred me to a high risk specialist for a level 2 ultrasound. the second doctor came to the same conclusion. we prepared ourselves for the worst. two weeks later, my labor was induced, and i delivers a 6 lb 3 oz, 18" baby girl. to our suprise she did not appear to be a dwarf. she had none of the other charicteristic facial features, trident hands.... nothing... except she was little, shorter than average extremeties. and in general, just little, but otherwise healthy. i was so happy, we took our baby home the following day to meet her 2 sisters and her brother, assuming everything was fine. Now here we are 4 1/2 months later, our daughter, Katie, now only weighs approx. 9 lbs 4 oz, she is aprox. 20 1/4 ". the doctor has already ruled out achondroplasia, by her dna test, she has had a full skeletal survey, and been addmited to the hospital to check for hypoglycemia, the results were negative. chromosome analysis was done to rule out turners syndrome, and down syndrome, her thyroid, liver and kidney function are all normal. her heart is fine, lungs are fine, and she eats 38/ 40 oz of formula per 24 hrs. i have tried to do as much research as possible, and although her doctors have done some testing, no one has come to any conclusion, or any possible diagnoses. i feel like were getting nowhere. the genetist says we have to wait for a few months before he orders more tests. and im not scheduled to go back until mid december. my daughter could be loosing precious growing time, as no diagnoses or treatment has begun. i am so confused. she looks absolutely perfect, just little, everyone says she looks like a 1 month old, but my son was bigger at birth than she is now. she looks like a little baby doll, smiling, cooing, trying to roll over, (though unsuccessful). i guess im just not sure what to do next. any help would be much appreciated. even if just a few other things to research. thank you for your time, Mrs. christina Wells, Ohio

 


   
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