Discussions By Condition: I cannot get a diagnosis.

Help for my daughter with overgrowth

Posted In: I cannot get a diagnosis. 2 Replies
  • Posted By: vickysmom
  • November 4, 2006
  • 00:56 PM

My daughter is about two weeks away from turning five. At 21 months old she received a diagnosis of cerebral palsy. She has had blood work for nearly everything known to man, all normal except for an elevated IGF II gene, which can't be linked to anything. She has had a normal MRI. No seizures ever and we were told that she won't get them. Hip x-ray shows no problem. Now here's what we do know, she has not ever walked unassisted. she has speech problems from poor muscle tone, she is just over 4 feet tall and just over a hundred pounds and there's no sign of slowing on height and weight. She has a high IQ, no hearing problems, she will need glasses in the future, but that's in the family. She has a bone age of 6-7 years old. She had an equestrian stance but was corrected with orthotics. She uses a walker but tires easily as she grows bigger. Her Genetisist and Endocrinolgist believe there's no way she has cerebral palsy and that it's an overgrowth syndrome but have no further testing to do to confirm. Does anyone have any idea's for me, we're getting very frustrated going to doctor after doctor with no hope of a correct diagnosis or treatment plan. My daughter is a very happy girl considering what she goes through each day, we just want to make things easier for her. Any help or idea's would greatly be appreciated.

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  • I have Marfan Syndrome. Although your daughter probably doesn't have Marfans, one of the symptoms of Marfans is overgrowth (I never fit 000 size baby clothes, I went straight into size 1 because I was so long/tall). Bone scans when I was a little older revealed I was going to be about 6'5" tall. I didn't want to be that tall so I had my growth stunted. I am now 25 and am just under 6'. My Endocrinolgist induced puberty early (when I was about 10) using a combination of hormones (the pill and something else; can't recall what). Although this won't help diagnose your daughter's condition at least you know there is a way to stunt her growth provided you start early enough. (Just be careful when she comes off the hormones. My Endocrinolgist took me off 'cold turkey' after 2 years or so and it caused me to go through menopause. It has reversed now; he put me back on the hormones and then took me off gradually, but it took about 6 months to get over the 'menopause' and it wasn't pleasant.)
    allie181 2 Replies
    • November 5, 2006
    • 01:05 AM
    • 0
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  • I was actually looking into Marfan's Syndrome this weekend and found that my daughter has alot of the signs. Her father also has alot of the signs too except he's not that tall. They both have the indent in there chests, very flexible fingers and toes. Her dad has to take amoxicillian before having any dental work done. He also was not very athletic, winds easily and has no desire to be athletic even as a kid. So I have to call her doctor and ask about this syndrome and see if we can confirm or deny this for a diagnosis. Still looking for answers or help.
    vickysmom 1 Replies
    • November 6, 2006
    • 01:27 AM
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