Monday, October 31, 2011

I think I hear the other shoe dropping


So the donor's karyotype is normal, except that it's not.

46 xx  normal female

but then at the bottom of the karyotype report it says: "A paracentric inversion of the heterochromatic region of one chromosome 9 homologue was observed in each cell examined. This is a heritable variant seen in the general population and is of no known clinical significance."

Anyone able to translate this? (I have Will researching right now as I'm about to go into a patient session.)

Apparently when the genetic counselor heard this new detail on the karyotype, she said the donor was out. Game over.

Until she heard from the donor nurse coordinator that it was our donor.

She knows us. She knows what we've been through. She knows how painstakingly we chose this donor. She told the donor nurse coordinator she will speak to the head of the genetic counseling department there for a final verdict.

So we are waiting on their call.

I want to cry.

Mo

***Update*** The donor nurse coordinator called. There will be no news tonight as the head genetic counselor has not yet been reached. We will hear the final verdict sometime tomorrow. In the meantime, we have done some research of our own on the significance of this finding and things don't look good.


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24 comments:

  1. If there's no clinical significance known, it sounds promising to me.

    I really hope it works out.

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  2. Ah crap, I hope this means nothing. You guys do not need any delays! Keep us informed as to what the genetic counselor has to say about this.

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  3. Oh no. Let me know when you hear what this really MEANS. Ah hell. Kicking the wall out here in Nevada on your behalf. Damn it!

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  4. I'm really hoping this turns out to be a brief blip. But bummed that you have to have another stumble in your road.

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  6. Oh no! I hope this is just a bump in the road and not a road block. Hoping for some good news in your next post.

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  7. Crap. That is so frustrating! I am really hoping that upon double checking they decide it's okay to proceed. I don't blame you for wanting to cry - I would too after everything you've been through! Fingers and toes crossed that it's no big deal, keep us posted and hang in there!

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  8. The good thing is her phenotype (appearance, IQ, learning, etc...) is normal so the paracentric inversion is not clinically significant in her case. But, can it be significant if it is passed on? Also, is there risk of pregnancy-related complications?

    Since CCRM do chromosome studies on embryos, would they be able to detect it?

    Mo,I am hoping good news for you. Hugs.

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  9. Crap;. I'm so sorry to read this. I hope that the geneticist has something different to say than what your preliminary research did.

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  10. I am sorry about that... Hopefully, you'll hear something different from the head geneticist tomorrow! You guys have gone through too much to have something like this happen. {hugs}

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  11. Oh sweet Mo, gosh darn it. Why must you be stricken by the second level test result obscure anomalous weirdness? I mean, come on universe! I will keep hoping, because it is What I Do, but man alive, what a pain in the ass this ride is for you two. Just stating the obvious, I know. I'll be holding hope for you.
    xo
    Kate

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  12. Oh gosh....can't anything be easy?!?! Wishing for good answers!

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  13. I am baffled by this but sending you lots of love- can't anything be easy

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  14. Damn. And then some. Hoping "no clinical significance" means exactly what it sounds like.

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  15. Oh, I'm so sorry -- regardless of what you learn next. While I agree/hope it would be great if this turns out to be of "no significance," I do also think if it's significant ... better to find out now. I know you put a lot of effort into finding the right donor and I certainly hope this one is she, that is, that this doesn't change things.

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  16. I am crossing everything over here hoping that this works out...you so deserve a break, not roadblocks.

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  17. I really, really hope it works out - you guys so need a break. I can't think of two more diligent with this journey and enough is really enough now.

    WIll keep checking for updates!

    (big hugs)

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  18. I have very little understanding about karyotyping. Can the universe give you a break, please?

    I hope the geneticist says it isn't much, and it actually isn't.

    Just don't know what else to say....sheesh!

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  19. Ohmigosh. I wonder if many of us have some kind of genetic level weirdness going on, but we just don't know about it because we aren't subject to this kind of scrutiny.

    But, you know, still.

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  20. Universe-- quit it. You hear me? Just stop it.

    Seriously, Mo, Will, I am so sorry that this is hopefully a small and laughable challenge on the road to great joy.

    The Prophet's chapter about sweetness only tasting sweet upon having had bitterness to compare it to seems hallow, but it's the best I've got.

    Hugs from here-- sending light and hope.

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  21. Oh, no, Mo & Will! This is such difficult news to get at this point.

    I just want to add some perspective in that we went with an unproven donor, an issue came up (not genetic, but besides the point) that we ignored and when the cycle failed I beat myself up over not just passing on her. I was in too deep, too emotionally committed to her, the process we'd undertaken to find her, my desire to just cycle already, etc. To this day, since we stopped all pursuits at becoming pregnant, I still wish I'd gone with a different donor.

    So, while I know this news is devastating, it is the universe protecting you from a possible negative outcome. I am so sorry.

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  22. Oh, fuck! Keep us posted. Big hug to you.

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  23. Seriously? I'm sorry. Please keep us updated.

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