Bad News — The Bump
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Bad News

We found out Friday afternoon that I AM a carrier of DS's genetic deletion.  This means that every child here on out has a 50/50 chance of receiving it.  The upside is that my x-inactivation is random so if this baby is a girl she has a very high chance of only being a carrier if she receives it.

Of course then we had to go to a wedding and listen to drunk people tell us how lucky we are to have a family and ask us a million times when DS is going to get a brother/sister. (We shared with my parents about the pregnancy and my diagnosis so that my mom can get tested.  If she's a carrier then my brother and cousins should get tested). we didn't tell anyone else about the pregnancy or diagnosis simply because we weren't emotionally ready.  It sucked.

If this comes back as de novo I may fall apart.  However, this will be our last child.  I have a rare genetic disorder that I already have a 50/50 chance of handing on (it's autosomal dominant) and now this one that is also 50/50 chance (but has a high chance of only affecting boys).

I just can't handle this emotional waiting game again.  Now we just wait till we can do an amnio and go from there.

Thanks for all your support this past 17 months ladies.

To my boys:  I will love you for you Not for what you have done or what you will become I will love you for you I will give you the love The love that you never knew

Re: Bad News

  • Sorry Toastie! That is a lot of bad news that will take some time to get used to. Definitely hoping your pregnant with a girl that is only a carrier. One day at a time. You know we are always here if you need to vent to people that are likely to understand.
  • Oh, I am so sorry, Toastie. This was not the news I was hoping for for you. The waiting game has gone on for so long for you, and I hate to see you have to go through it again. (((HUGS))) (((PRAYERS)))
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  • I'm so sorry about the bad news and all the stress that brings. **hugs** I'll be keeping you & your little one in my thoughts. 


    DD1, 1/5/2008 ~~~ DD2, 3/17/2010
  • ugh. I saw the post title and said "aww f*ck"

    I am sorry you are dealing with this too. Know we are here for you and wishing you and your LO the best of luck. {{{HUGS!}}}

    WAY 2 Cool 4 School

  • thinking of you and your family!
  • I was sad immediately when I saw the title of your post.  Sorry to hear this.  Thinking of you all.
    Zachary, 8.31.2007 * * * Adam, 3.24.2010<BR>

  • I am so sorry.  The waiting game is horrible, especially when you're pregnant, when emotions are amplified.  

    It really sucks when good people have bad genetics.  It's just not fair.

    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

  • I'm so sorry to read this and am thinking of you.
  • I'm not going to mince words...That SUCKS!  I hate that you have to worry and stress when you should be enjoying your pregnancy.  Ugh....

    I'm REALLY hoping for the best for you and the baby and that, no matter what, you are able to find some peace.



  • I'm sorry!  I don't know what to tell you except that George also has the same 16p11.2 duplication as Chris which also means we had a 50/50 chance of it passing to one of our children.  Chris is the only one of the kids who has the same duplication.  George has a few minor things going on but has a Master's in Engineering which counts for a whole bunch in my book.  I'm going to hold out faith that everything will be ok for you as well!
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