DiGeorges Syndrome, Polyhydromnios, Chromosome 22 — The Bump
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DiGeorges Syndrome, Polyhydromnios, Chromosome 22

Anyone with these diagnosis, come on in!  Well, as if the news keeps on comin'

 I am pregnant with a girl who may/may not have DiGeorges Syndrome.  She was diagnosed with Truncus Arteriosus and will have to have heart surgery sometime after birth.  Well, during my last visit, I was informed that I have too much amnio fluid which indicates a possible swallowing dysfunction.  Lastly, she is measuring small. We are just waiting for the amnio results to pinpoint exactly what is going on.

 Anyone with any information that can help me or if you have been through any of these please give me some advice, hope, anything!

 I try to get on here as much as I can, but its hard to respond with my dumb phone!

 Here is my personal email (easier access) mickigirl1 at yahoo.  I would love to hear from you :)

 

Michelle

Lilypie Angel and Memorial tickers Daisypath Anniversary tickers image Me - 41 DH - 28 **** Proud mom to Christopher, dob 7/15/92 **** Nathaniel dob 1/18/05 -1/18/05 (8 mos) in heaven **** bfp 8/26/10 m/c 10/14/10 at 7 wks. **** D&C 10/15/10 **** Cycles 1-4 BFN's **** Cycle #5 - 100 mg Clomid **** IUI #1 - 04/23/11 and 4/24/11 - 5/8/11 IUI #1 = BFFN BFP 10/14/11 - EDD 6/22/12** Stick little one Stick! Athena Jane 5/31/12 - 8/28/12

Re: DiGeorges Syndrome, Polyhydromnios, Chromosome 22

  • My son was diagnosed with DiGeorge when he was failing to thrive at 3 weeks old.  

    There was never a sign that something was wrong when he was in utereo.  You will have this advantage to be prepared as you can be. 

     

    Adter his surgery he has had no problems with growth. He has low tone of mouth and feet/lower legs, compromised immune system, speech delay, parathyroid crawled and walked later than 'normal'.We see cardiology , endocrinology , and orthopedic on top if regular pediatric appointments.  

    Its  overwhelming  at first but once you get to know where they are lacking in then u work on it. Get involved in the state program, in Missouru it's called First Steps, they will be big help with your LO. 

    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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  • There's a possibility that they're indicating a swallowing disorder, your LO could have VACTERL.  (The C being cardiac involvement - truncus arteriosis)

    V - vertebral

    A - anal

    C - cardiac

    T - tracheoesophageal fistula

    E - esophageal atresia

    R - renal

    L - limb

    These are all the body parts associated with the "family" of anomalies.  If your LO already has the C, and the docs are talking about swallowing disorders associated with polyhydramnios it's a possibility that LO could have EA/TEF (which are the T and the E in the VACTERL acronym).  There are many, many of us on FB, EA/TEF Family Support Connection .  Ask your docs to look for it although it's typically only diagnosed 33% of the time en-utero.  

    You can also email me directly if you have more questions.  eatefnorcal @ hotmail.com

    Honestly, it could also be transient polyhydramnios or polyhydramnios of unknown etiology.  I had it with my second son also, and he was born absolutely, 100% healthy.


    Prudence
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  • Thank you so much for the information ladies! My doctors have been absolutely amazing in trying to explain everything to me.  However, I find it's easier to understand from those who have been through it already, or at least know in lamans terms (especially for me). 

    I find out next week the amnio results and go in tomorrow for another growth ultrasound and fetal echo.  FX for some good news!

    Either way, this little one will be loved irregardles of her diagnosis'

     Thank God for Loma Linda hospital!

    Lilypie Angel and Memorial tickers Daisypath Anniversary tickers image Me - 41 DH - 28 **** Proud mom to Christopher, dob 7/15/92 **** Nathaniel dob 1/18/05 -1/18/05 (8 mos) in heaven **** bfp 8/26/10 m/c 10/14/10 at 7 wks. **** D&C 10/15/10 **** Cycles 1-4 BFN's **** Cycle #5 - 100 mg Clomid **** IUI #1 - 04/23/11 and 4/24/11 - 5/8/11 IUI #1 = BFFN BFP 10/14/11 - EDD 6/22/12** Stick little one Stick! Athena Jane 5/31/12 - 8/28/12
  • Keep us posted!  If u have questions that u maybe able to help please email me at [email protected] dot com
    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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