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Williams Syndrome?

Rachel SonnierRachel Sonnier member
in Special Needs
Do we have any WS moms here?

My daughter's cardiologist has always suspected WS based on her pattern of heart defects. Our genetic testing is still pending, but they did a cath on Tuesday to attempt to balloon her pulmonary valve which they were unable to do. They came out of the cath lab saying that they found 8-9 different heart abnormalities and that they were 99% sure based on their findings that she has some form if WS.

They said she will need an open heart procedure soon to begin repairing things and as of right now her 3 cardiologists are trying to figure out what is the best course of action in her case. She's 5 months old.

I was just wondering if there were any WS moms here who could give some advice/direction. It seems that there aren't many hospitals/surgeons that deal with treating her specific constellation of defects.
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Re: Williams Syndrome?

  • joshsmandyjoshsmandy member
    I'm so sorry your dealing with this with her being so young. Please keep us posted, I will keep you all in our prayers
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  • realisticdreamsrealisticdreams member
    I have a very close friend IRL whose daughter has WS.  If you want to PM me your email I can put you in contact with her.  

    Good luck.  The little girl we know is nothing short of amazing, I know she has many heart issues and is in the hospital alot though.  
    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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  • Rachel SonnierRachel Sonnier member
    Fred are they from Michigan, or did they go there to specifically see someone special for his surgery?
    We know she needs a pretty complex surgery, and I'm trying to find out if there is anyone in the US who either specializes in treating WS heart cases, or who deals specifically with her types of defects.
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  • Rachel SonnierRachel Sonnier member
    Thank you so much!! I'd love the name of their dr and if she wouldn't mind talking, or exchanging emails with me, that would be awesome. :-)
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  • Rachel SonnierRachel Sonnier member
    Thank you!
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  • EmAreEmAre member
    My daughter's geneticist strongly suspected that she had WS (she does not, but does have a different chromosome abnormality). While we were waiting for the results to come back, I found several wonderful WS moms on FB who were supportive and helpful. Search out closed WS groups on FB. I'm sure you'll find what you need there.

    Hugs!
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  • Rachel SonnierRachel Sonnier member
    Thank you so much!! I will look for it now! :-)
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  • Rachel SonnierRachel Sonnier member
    @EmAre do you mind me asking which factors made your geneticist think your daughter had WS?
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  • Rachel SonnierRachel Sonnier member
    @realisticdreams‌ you've got PM! :-)
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  • EmAreEmAre member
    Rachel Sonnier said:

    @EmAre do you mind me asking which factors made your geneticist think your daughter had WS?

    Chronic GI issues, very small size, some dysmorphic features combined with her very outgoing personality and just her pixie-like appearance. Honestly, if you read the symptoms of WS and compare to her actual diagnosis of 16p11.2 deletion, she matches much more of the WS criteria than the 16p.

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  • Rachel SonnierRachel Sonnier member
    So no heart issues? @EmAre‌
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  • EmAreEmAre member
    Rachel Sonnier said:

    So no heart issues? @EmAre‌

    No. None.

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  • Mrs. StewMrs. Stew member
    edited March 2015
    @RachelSonnier, I know this is an old thread, but was your daughter diagnosed with WS?  DD1 has it and I'd love to connect with you!
    Married 7.5.08
    BFP 12/10/10 - DD1 8/16/11
    BFP 10/29/13 - c/p 11/2/13
    BFP 11/29/13 - DD2 7/18/14
    BFP 3/20/18 - DS1 due 12/2/18
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