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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.