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Ian's Genetic Test Results ~ X-posted :)


Forum: Pumping Mommies

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  #1  
October 21st, 2009, 07:16 AM
Astrid's Avatar Platinum Supermommy
Join Date: Oct 2005
Location: Houston, TX
Posts: 27,408
Girls, I am so happy tonight! Todd & I are celebrating. I *knew* in my heart that my little boy was fine but when the neurologist mentioned Fragile X, it broke my heart. I was so worried. Well, after the horrible blood draw & waiting 2 weeks for results & then no phone call from them, I figured I would leave well enough alone, right?

Nope, I had to call yesterday. His neurologist, Dr. Brown (LOVE the man...he is my age & has a little girl that he says needs to hook up w/ Ian, tee-hee...sorry Lizzie), called & told me that Ian is F.I.N.E.

The complicated version...

So, there is something called "repetitions" when they test for abnormalities. Sometimes these repetitions show an active or INactive issue. For Fragile X, the repetition amount is 55-200 (from what I gathered). Ian's repetitions were at 51 which showed that 1) he does not have Fragile X, but 2) he is a carrier for the genetic defect.

What does this mean? It means that Ian is OK but if Todd & I decide to have more kids, we need to get tested genetically to see if either of us are carriers. Now, the reason being is that his repetitions are at 51 which could be due to a fluke OR it could be b/c we are carriers. That's ok. I don't think we are planning on any more, haha! If we do decide to use our 5 frozen embies, we will need to get them genetically tested prior to transfer.

Long term effect, Ian's future wife will need to get genetically tested b/c his children have a higher chance of having Fragile X b/c his repetitions are borderline.

I hope all this makes sense. It took me a couple of hours to sort it all out! I'm just so friggin' happy! My boy is NORMAL.

**More on my blog...better explanation.**

http://survivingtriplets.blogspot.com
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  #2  
October 21st, 2009, 07:46 AM
tela's Avatar Platinum Supermommy
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that is wonderful news!
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  #3  
October 21st, 2009, 08:09 AM
greenchild's Avatar Platinum Supermommy
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Location: MN
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YAY!!! That is great news!!
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  #4  
October 21st, 2009, 08:31 AM
CalFan's Avatar Blue State of Mind
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That IS great news, Astrid. Enjoy your celebrating!
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  #5  
October 21st, 2009, 11:36 AM
kerian's Avatar Platinum Supermommy
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oh Astrid that is wonderful news!!!!!!!!!!!! bet you feel like the weight of the world has lifted off your shoulders!
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  #6  
October 21st, 2009, 11:58 AM
mutleysweet's Avatar a May 2009 mommy :D
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That is wonderful news! The celebration indeed is a must!
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  #7  
October 21st, 2009, 06:36 PM
amberrose22's Avatar Mega Super Mommy
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great news Astrid!!
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  #8  
October 21st, 2009, 06:46 PM
Astrid's Avatar Platinum Supermommy
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Quote:
Originally Posted by kerian View Post
oh Astrid that is wonderful news!!!!!!!!!!!! bet you feel like the weight of the world has lifted off your shoulders!
Yes, & then some!
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Check out hEvan @ http://www.etsy.com/store/hEvan
for some great handmade items.
All proceeds go to a family struggling w/ infertility!



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  #9  
October 21st, 2009, 10:20 PM
Platinum Supermommy
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That is so wonderful!!!
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  #10  
October 22nd, 2009, 12:14 AM
shortlette's Avatar Platinum Supermommy
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YAY! I'm so pleased that you have nothing to worry about.
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  #11  
October 22nd, 2009, 09:17 AM
Pitridge's Avatar Platinum Supermommy
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That's wonderful news!!!!!!!!!!
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