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DiGeorge Syndrome

pms1pms1
in Special Needs

My 9 month old little boy has had a number of minor medical issues. He was born with a heart murmur and hypospadias. They discovered at 1 month that the heart murmur is caused by VSD. He is also anemic, developmentally delayed, and mildly low tone. Our pediatrician was concerned that they were related somehow and sent us to a geneticist. The geneticist did a chromosomal test, and found that DS is missing one of his 22 chromosomes, or has a condition call DiGeorge Syndrome. 

The plan is now to test him for other complications that the syndrome causes. 

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Re: DiGeorge Syndrome

  • realisticdreamsrealisticdreams member
    imagepms1:

    My 9 month old little boy has had a number of minor medical issues. He was born with a heart murmur and hypospadias. They discovered at 1 month that the heart murmur is caused by VSD. He is also anemic, developmentally delayed, and mildly low tone. Our pediatrician was concerned that they were related somehow and sent us to a geneticist. The geneticist did a chromosomal test, and found that DS is missing one of his 22 chromosomes, or has a condition call DiGeorge Syndrome. 

    The plan is now to test him for other complications that the syndrome causes. 

    I *think* we have atleast one other DiGeorge mom here, if not I believe their is a good forum out there, you might want to google for it.  Peyton was tested for this because she had some of the features/symptoms but it was negative, so we still don't know IF she has a genetic link or not.

    Do they expect his VSD to close on it's own or are they planning surgery?

    Welcome to the board, everyone here is super nice and we are happy to help you out anyway we can. 

    DD1(4):VSD & PFO (Closed!), Prenatal stroke, Mild CP, Delayed pyloric opening/reflux, Brachycephaly & Plagiocephaly, Sacral lipoma, Tethered spinal cord, Compound heterozygous MTHFR, Neurogenic bladder, Urinary retention & dyssynergia, incomplete emptying, enlarged Bladder with Poor Muscle Tone, EDS-Type 3. Mito-Disorder has been mentioned

    DD2(2.5): Late term premie due to PTL, low fluid & IUGR, Reflux, delayed visual maturation, compound heteroygous MTHFR, PFAPA, Bilateral kidney reflux, Transient hypogammaglobulinemia, EDS-Type 3


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  • Assembly_ReqdAssembly_Reqd member
    Welcome!
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  • ARJ11ARJ11
    I have no experience with DiGeorge, but I just wanted to say welcome! 
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  • gremaud07gremaud07 member

    My son has DiGeorge, diagnosed at 3 weeks old after open heart surgery.  He was first diagnosed as failure to thrive and after being persistent they did quite a bit of work up to find he had a murmur at first. Once they went into his heart he had PDA and his right aortic arch had attached incorrectly. 

     He started to show aome delays at 9 months old with not putting weight on his legs  He has low tone in his mouth, feet, and alittle in his arms, and has speech delays. 

     

    If you saw him you would never know he had a rough start in life. The therapies and doctors have kept him in check

    If u have questions I will answer them to best of my ability. 

    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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  • telfakayetelfakaye
    Hello! My 17 mth old daughter was diagnosed prenatally with digeorge syndrome, she ha OHS at 9DO, low calcium after surgery, missing thymus, and is a little delayed. She's doing very well now and seems to be mildly affected by it. I'm happy to answer any questions you have!
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  • xmanmama2010xmanmama2010 member
    my ds has the oposite of DiGeroge he has an extra part on 22.
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  • pms1pms1
    imagerealisticdreams:
    imagepms1:

    My 9 month old little boy has had a number of minor medical issues. He was born with a heart murmur and hypospadias. They discovered at 1 month that the heart murmur is caused by VSD. He is also anemic, developmentally delayed, and mildly low tone. Our pediatrician was concerned that they were related somehow and sent us to a geneticist. The geneticist did a chromosomal test, and found that DS is missing one of his 22 chromosomes, or has a condition call DiGeorge Syndrome. 

    The plan is now to test him for other complications that the syndrome causes. 

    I *think* we have atleast one other DiGeorge mom here, if not I believe their is a good forum out there, you might want to google for it.  Peyton was tested for this because she had some of the features/symptoms but it was negative, so we still don't know IF she has a genetic link or not.

    Do they expect his VSD to close on it's own or are they planning surgery?

    Welcome to the board, everyone here is super nice and we are happy to help you out anyway we can. 

    Hi thanks for the welcome. Right now they are just monitoring his VSD, hey said that if it doesn't close then he will have surgery to correct it when he is two  years old.

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