Wednesday, January 19, 2011

Meeting with the Genetics Counsellor

This meeting ended like my consults with doctors usually do-- with them telling me that I've already thought of every possibility and managed to test it all by myself. He looked at my 'normal' karyotype and said we could rerun it if I wanted (because one X chromosome looked a little shorter than the other) but most likely its nothing and such findings are common because of the way they do the tests.

But the one staggering thing to come out the meeting-- he told me that the fault was more likely to be the donors. My baby had Turners syndrome, one sex chromosome was missing. I had assumed that it was most likely that it had been the egg that came missing a chromosome. He informed me that in cases of Turner's syndrome, its more likely that it was the the sperm lacking the chromosome.

They assume this because a sperm lacking a chromosome is lighter, so it can swim faster than anybody else there and get to the egg first . So by this theory, monosomy is more likely to be a sperm error, while trisomy is more likely to be an egg error. If it really was a crappy sperm that  jumped my egg, then its just sheer, horrible, bloody bad luck.

People have often asked me whether my losses are happening because I'm doing IUI with frozen donor sperm and my answer has always been a very indignant negative. But now I have to wonder.

What is the advantage with natural conceptions? In a way, it is that the timing is often off. Intercourse may occur well before ovulation, and only the fittest sperm are still left swimming by the time the egg makes its appearance. In a perfectly timed IUI (where you just inject the sperm into the uterus instead of making them swim their way through a hostile vagina and through the cervix and then make them hang around waiting for the egg)  you are removing a lot of the negative selection process that allows only the fittest to survive, and just sometimes, you might end up paying for it

Still, this stuff is completely inconclusive. It very well might have been the egg (I was informed that with an X monosomy, 70% of the time its the sperm, 30% of the time its the egg).  It could still be PCOS messing up my eggs (likely explanation for both losses), it could have been thyroid issues responsible for my first loss and sheer bad luck the second time. OR--- it could be that both the thyroid and the turners are red herrings, that I have more than one big problem and there is another stealthy culprit we have no idea about just yet.

I wonder if I really have PCOS and should be on metformin.  I wonder if it would be a good idea to actually mess up the timing of the IUI a bit,  that is, inseminate the day I see surge and not 24 hours later, when ovulation is likely to occur?Or should I do an ICI? Worth the risk of a BFN? I wonder if I should be changing donors, though at this point there is no logical indication for that.

I have no idea what is the best route to take.  Despite the science and all the information I have (far, far more than the average person would in this position), the path forward is still unclear. I'm horribly aware that I'll have to take another leap of faith, knowing that another crash landing is highly possible. 

ARGH!!!!!!!!!!!!!!!!!

10 comments:

  1. I feel for you. I have the similar issue of not really knowing what is wrong but unlike you, I dont really understand the scientific intricaces and therefore I just have to take the docs word for it when he says "chromosomes were all OK." Its a double edged sword isnt it? Knowing more gives you more of a feeling of control (which I personally love!) and then knowing too much and not having the answers can drive you batty!. I wish you all the luck in the world in your journey. Hope 2011 is a good year to us. x

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  2. I did notice a difference when I started Metformin (I was doing IVF so we could see the difference in quality.) But my PCOS is only theorized and mild at best, since I ovulate like a champ. So who knows. But, yes, this stuff is TOUGH. I don't think using Metformin can really hurt you, as long as you take Vitamins with it. (It depletes certain ones, I am forgetting which.)

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  3. All of these "could be's" are so frustrating, I know. I wish all the well-paid docs could just figure it out, and give us a healthy baby! Is that too much to ask???

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  4. I hate this quagmire, too. It seems to be entirely a game of percentages and probabilities with very few set and established protocols. No matter how much information you gather, the choice of what to do, how to prevent another loss, nearly always seems to come down to a judgment call.

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  5. until we get to our goal, i think the only thing we can do is keep leaping. i'm sorry your mind is so fraught with many quesiton and no answers right now. hugs.

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  6. If you mess up the timing of the IUI, you may not have any sperm left to try to impregnate the egg as they 'supposedly' only live for approx 6hrs as opposed to the fresh ones lasting days. IUI's are more successful than ICI's, so I probably wouldn't recommend that route. Perhaps your best bet would be IVF with genetic testing on all embroys. At least that way you know all are in great shape before implantation. Best of luck.

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  7. There is actually a huge deal of confusion about this point. I did tons of research on this while first setting out, when I thought timing was absolutely critical to success. From what I could tell, some of sperm that survive the freeze thaw process well (and this is only a fraction from the total sample), could possibly have the similar lifespan as the fresh stuff. I *might* be willing to risk atleast one BFN, with an ICI done on the day of the surge (and of ovulation)...atleast by this method you are going towards selecting that only the 'best' swimmers get to your egg. This is a topic where I would bow to the RE's final judgement though.

    IVF with PGD is on the cards, but its the final option before surrogacy or adoption in my book...cant jump to it yet.

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  8. Vitamin B12 gets depleted...I've had my blood levels of this checked and thankfully they are super good at this point.

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  9. It's so frustrating when, despite the amount of information available, there is still no set answer. I give you so much credit Jay - because even with such a scientific mind, your faith is just as strong. Yes, there are times when you have to leap far beyond your comfort zone, but you do. And because of this, I believe with all my heart that 2011 is YOUR year to become a mom.

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  10. I did not know that about monosomies vs. trisomies - that's fascinating. Also fascinating that it might be the donor. I know you mentioned that he's fathered several children as a donor. I hate the idea of awful luck, but sometimes it's often the most plausible (if frustrating) explanation.

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