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24 July 2012

It's A (Triploid) Boy!

He was a boy.  Well, an XXY male.  Why XXY you ask?  Because he was (probably) a triploid.  A what?  Yeah, I had never heard of triploidy, either.  Because the initial genetic testing yielded no results (which we were warned may happen), the doctor ordered a different test, called FISH, to "rule out" the 3 most common fatal trisomies, 13, 18, and 21, and also for the X&Y to be looked at.  Instead of ruling these problems out, ALL 3 (4, with the sex chromosomes) were ruled IN as "abnormal", with 3 sex chromosomes and 3 chromosomes on 13, 18, AND 21.  Conclusion?  "These studies demonstrate three signals for FISH probes specific for chromosome 13, 18, and 21 in this sample.  Two signals for the X chromosome and a single Y signal are also present.  These results are consistent with a triploid fetus... Triploidy is observed in approximately 20% of chromosomally abnormal spontaneous abortuses."  What the heck does this mean?  It means somehow, through either an error in cell division, an egg which somehow had 46 chromosomes already, or by a single egg being fertilized by 2 sperm, the baby LIKELY had 69 chromosomes instead of the normal human 46.  Many people have heard of trisomies (like 21, down syndrome), which is an extra chromosome at ONE point, this special lil' guy had a full extra set of chromosomes (most likely).  I keep saying "most likely" because we didn't get a karyotype of the baby, JUST the markers for these specific chromosomes, which all showed an extra; therefore, he LIKELY had an extra full set of chromosomes, making him a triploid.

We have yet to speak with a genetic counselor about what this all means, but from what I could find (you KNOW I've been researching everything I can find about this), it is rare, unlikely to happen again, and not inherited or anything we could have prevented.  Moving forward, this almost makes things more confusing for me, though.  Not because of what we know about him, but because of what we DON'T know about Taylor.  All I know about Taylor is that she didn't live.  I don't know if something was "wrong" with her and I never will.  Don't get me wrong, it's AWESOME to have an answer this time.  But not knowing what, why, how, when with my first loss makes it scary to try again.  There are just still so many unknowns in the mix.  Could we be one of the VERY few unlucky who has this happen twice?  (The odds of that are like being struck by lightning twice- not good).  Was something different wrong with Taylor?  Was she totally fine and we just don't KNOW what went wrong?  Was MY health a factor in one or both losses?  I read somewhere that autoimmune disease can CAUSE genetic abnormalities- did this happen to both of my babies, and will it happen to another?  Then there's the whole "what the heck is wrong with me, anyway?" issue.  We SUSPECT that I have some sort of autoimmune related illness, that doesn't necessarily make it so.  So yeah- ugh!  Kinda SUPER frustrating!  At this point, I'm basically waiting for a sign from God one way or the other.  I know that before, I sounded hell bent on having a healthy baby but now I. JUST. DON'T. KNOW. ANYMORE.  After Taylor I always said it "doesn't feel up to me."  Now, it REALLY doesn't feel up to me.  So, I'm just kinda waiting for some clear sign either way.  If God wants me to have a baby (or, please, no, do this again) then I am up for heeding his call.  If not, not.  I really don't want to do this again, AND I'm starting to have some of those "I don't know if I want to start all over" doubts.  So as glad as I am to have ANSWERS this time (and did I mention?! he's a BOY! so super stoked to know), I AM LOST!  Please pray for me, because I really, really, really need some help trying to decide what to do moving forward.

2 comments:

  1. You know I'm praying for you all. For peace, comfort, clarity, knowing .... Love ya lady! XO

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  2. Sending prayers your way. I know its scary to move forward, for me it came down to the realization that if I didn't try then I'd never have a child. And that just isn't a reality I can accept.

    You'll have that "aha" moment yourself and you'll know exactly what to do. (((BIG HUGS)))

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