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DiGeorge syndrome

FemNik214FemNik214 member
in Special Needs
I found out through a chromosomal test on my five week old baby girl that she has a deletion on her 22 chromosome which may possibly mean she has DiGeorge syndrome, she was born with a macroform cleft(healed itself in utero only leaving a slightly deviated septum and little scar below her nose) Are there any parents on this board that have dealt with this, we have an appointment with her geneticist on the 15th for more testing so we don't know for sure.
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Re: DiGeorge syndrome

  • grbnikgrbnik
    We don't have a diagnosis yet, but are getting genetic testing for this.  How are you both doing?
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  • FemNik214FemNik214 member
    I'm okay, dealing with the what if's, and she's in the hospital sick with RSV, grandpa didn't tell us he was sick and got our whole little family unit sick. Poor baby has an IV in her head.
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  • grbnikgrbnik
    Oh no!  My dad did the same thing when G was little.  I was ready to kill him, because G spikes really high fevers (104) when she is sick.  The less sick, the better.  Hope everyone gets better soon.  Please keep us posted.
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  • FemNik214FemNik214 member
    Luckily we're not dealing with fever, but she's just not been keeping her oxygen levels up, poor baby turned blue on me. we're on night number two in the hospital but I'm glad we're here so she can be monitored. How is your little one?
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  • gremaud07gremaud07 member
    My son has Digeorge , was diagnosed at 3 weeks old after his open heart surgery. We have dealt with speech delays, sensory seeking, and some other mild issues.    
    But we haven't had to do deal with cleft of any sort. 
    Baby #1 MC November 2007
    Baby #2 MC June 2008
    Baby #3 Born April 2009
    Baby #4 due date February 2015

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  • Milly5779Milly5779 member
    My bf's little girl has Digeorge syndrome.  She just recently went through a surgery to correct her palate in her mouth so that her speech will improve.  She had many surgeries when she was first born, but when you see her now she is a little pi
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  • FemNik214FemNik214 member

    From what I've read neither parent is a carrier, it's a freak thing so unless he's been tested and proven to have it also(parents that have it have a 50/50 shot of passing it on.) he likely is not a carrier.

     

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  • FemNik214FemNik214 member
    Hallelujah!!!! our echocardiogram came back completely normal, now we just have to get through this RSV and get her thyroid and thymus tested. and i know this is going to sound weird but have you noticed overlapping toes/them laying at an odd angle.
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