Tuesday, November 1, 2011

You have an inversion on chromosome WHAT?!

The email just came in with the final word from the genetic counselor about our egg donor E's karyotype results:
"An inversion on chromosome 9 is generally thought to be a common and benign polymorphism, but we do not allow donors to donate if they have any type of chromosomal variant, as it could disrupt meiosis and lead to aneuploidy."
Basically one piece of our donor's chromsome 9 is reversed end to end.

It looks something like this:

While we were waiting on word from the genetic counselor, we did our own research (of course, you knew we would).

And we found that while this inversion (not sure if it is a paracentric or pericentric, or whether it matters) is considered a "minor" chromosomal rearrangement and doesn't correlate with abnormal phenotypes, that research also suggests (depending on which type):
  • a higher risk of spontaneous abortion in approximately 30% of those affected (and we need that like we need a hole in the head, frankly)
  • potential abnormal ultrasonic findings on fetuses with this abnormality, including hydramnios, anhydramnios, hydroureter, hydronephrosis, encephalocele, and prune belly syndrome. 
  • that it is a potential cause of psychiatric disorders
  • reports of links to congenital genital malformation, mild growth retardation, malformations of the skull and facial (craniofacial) region, undescended testis, skeletal malformations, mental retardation, hermaphroditism, and/or cardiac defects
Why in the world would we sign up for any of those things?

Because you know they would happen to us, they just would. We are not lucky when it comes to reproduction. I mean, seriously, we are not.

We feel bad for the donor, too. Because this can't be easy news to hear, even though everything will likely be fine for her (stress on "common" and "benign" variant). No matter what, not what she was expecting when she signed up to donate.

As for us, we are back to square one. But honestly, not even square one. We're back to zero.

I've never been thrilled about donor egg. I became thrilled about this donor. Will too. He says he feels that we just lost a member of our family, because we'd already ushered her in in our minds.

Better to know now than later, but still, what a sucker punch. We are out approximately $10,000. And we are out our dreams and hopes of what a baby with this donor would be like, and have also lost our hopes of moving forward in any timely manner. It took so much emotional work to feel OK about this, about her. And now, well...

I don't know that we want to do donor egg with another unknown donor. 

Maybe we will just go straight to surrogacy. 

Maybe we will consider donor egg with my sister. 

Maybe we'll just put our embryos back inside of me at the time when we would have done the donor egg cycle.

To add insult to injury, I took my depot lupron shot on Sunday. The day before the rug got pulled out from under us. I absolutely hate depot lupron. I hate the effects on my body, my mind. I can't believe I got suckered by the universe into taking it - now for nothing. 

I feel like we are so very unlucky.

I feel like giving up. 


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  1. Wow. So very sorry that you're experiencing another kind of loss.

  2. Oh no Mo!!! This is awful news...as you may recall that is my fertility problem. I have a pericentric inversion on Chromosome 16. Thus we went to DE and now have a baby boy through this route. I agree...you should not undergo DE with this donor. I am so so sorry...this is super rare for your donor to be a carrier of this. I am sure she is crushed too as this means that her fertility will likely be compromised too. Oh this is terrible news on so many levels. Jeez...I sure hope you come to a quick decision on what your next step will be. Take care.

  3. Sigh. I'm so sorry this happened.

    Of course, you don't have to make any decisions right now about what to do next and I imagine this latest loss will take a while to process.

    I also feel awful for the donor, who now knows she's at risk for all these things if she ever wants to have a child.

  4. Oh Mo. This is just so terribly unfair. How many more punches to the stomach can one take???

    Wishing you peace and answers in the days ahead as you grieve and decide where to go from here.

  5. Oh no, Mo, I am SO SORRY.

    And as a woman with a chromosomal abnormality of my own, my heart really, really goes out to your lovely donor. She signed up to do an incredibly generous thing and instead of doing that, gets a life-altering sucker punch of her own. Finding out this kind of information is extremely hard and it seems a pretty sucky payout for trying to help another couple build their family. I'm so sorry that this is happening - to all three of you.

  6. I am so very sorry. Sending you lots of hugs and love. :-(

  7. I am So sorry to hear all of this - so Very unfair.

  8. Damn. I'm so sorry. Extra sorry about the lupron shot. Ugh!

    Have you considered using a CCRM donor? I assume they are pre-tested. Whatever you decide to do next, we're all in your corner.

  9. I'm so sorry that this is happening to you guys - you sure deserve a break , wow...none of this is fair.

  10. I am in utter disbelief over here. I can't believe this has happened. My original donor backed out on us last minute & it was pretty devastating to us. I was really excited for her to be our donor. We ended up using our second choice after much discussion. It is ridiculously disappointing for this to not work out with your donor, but hopefully this is happening for some kind of reason? I am sick that you are out 10K, but to have the potential of having another miscarriage via DE, I think would be too much to handle.

    I'm thinking of you guys & hope you don't give up on this journey. Give yourself time to process things and be pissed!
    In my heart of hearts, I still believe you will be a mother someday. Hang in there.

  11. So sorry to hear this news. I will continue to keep you in my prayers.

  12. Oh, damn. I really can't believe you've had another setback. How awful for all three of you.

    Like Dora, I wonder if a CCRM (or other big clinic) donor might be a good choice, rather than starting from scratch with another agency donor.

    I'm so sad on your behalf, Mo. The universe really needs to cut you a break...

  13. I am so sorry to read this. What a shock and disappointment.
    Keeping you in my prayers.

  14. Argh Mo! You know I am gutted with you. I definitely have felt like not only are we unlucky in the baby-making dept, but we bring bad luck to those who try to help - our very first donor - one we had already ushered into our minds - found she had secondary infertility when we attempted a cycle with her. We were so attached that we even tried an experimental protocol with her again to see if the first time was a fluke - it wasn't. We were gutted. And wanted to give up. And our nurse talked us out of it. And led us to our new donor. Who gave us some great eggs, that made our beautiful daughters. And will hopefully create a living, breathing baby that we can love....as soon as we find a place to put them.

    So, yeah, in your search for potential baby mamas, if you find any extra, please feel free to send our way. ;-)

    Don't give up Mo. I mean, totally fair to sulk and curse (and have a drink or two?) in the coming days. But if its any consolation, you're not alone, and it ain't over yet.

  15. I can't believe this is happening! Ugh! I wish I could wave a magic wand and make this all go away. Sorry about the lupron too. Things will work out though, don't give up!

  16. BLOODY HELL! Its like the effin universe will not cut you guys a break. But it both whacked you around and helped you here...what if you had had less stringent testing or they had not caught this? Mental retardation, psychiatric defects, cardiac defects? There is nothing quite as horrible as being forced to undergo a termination at 5 months or much worse, watching your child slowly suffer.

    I've started to look at this process like a poker game...you either fold early, hand after bloody hand or sometimes you can go in with what you think is a fabulous hand and lose everything. Early pregnancy losses, horrifying as they are,many-atimes, are saving you from the latter.

    Don't give up. Take a deep breath, regroup and wait. Something HAS to come along.

    And about identifying with a donor--I'm trying to give myself this pep talk too because there may come a time when I have to give up on my beloved donor-- its does not matter what the parent was like after you are pregnant with that child- there WILL be that connection. Sometimes, we just have to take a deep breath and go with a choice that may not seem like the best one at first...

  17. Oh, Mo, I'm so sorry things fell apart like this. It sucks to always be on the bad end of statistics.

    It's crushing, but try to put the decisions on hold while you grieve this particular ending.


  18. Maybe a sign...that you should transfer your normals. Maybe the depot Lupron was not for nothing.

  19. Excuse my language, but F*ck! that's just so unfair.

  20. Oh geez, Mo and Will. I am just so sorry to hear this - at this stage of things, no less. And I literally gasped out loud when you said you just took your first DL the night before this news. Ugh, that is just insult piled on top of injury. That stuff is evil.

    Again, I'm so sorry.

  21. I'm just so sorry. How completely unjust and unfair the universe can be. Sending you all kinds of good thoughts and hoping the way forward becomes clear. Take care of yourselves.

  22. Gosh almighty! The universe has a pretty F'ed up sense of humor sometimes, it seems. Condolences to you two and your donor. I do tend to agree with anonymous-- if you've already started the evil horror which is depot lupron, would you consider transferring one of your precious embryos? If the surrogate thing were more timely, I might suggest that, but depending on when you want to get this show on the road-- considering transferring your normals (if, and only if you feel up to it) might be the most expedient path right now. Why, oh why does this have to be so bloody difficult?!? Lots of hugs, a lot of chocolate and a few choice swear words from here.

  23. I am sorry about the news. I think it's best to not use her at a donor. My husband has a chromosome issue and our fertilization rate was really, really low. I know it's hard to start over again, especially since you are out money but it will work out for you. Some way some how you will have your happy ending. I think using your sister as a donor is a great idea!

  24. I'm so sorry about this. I was hoping it would be better news and that the geneticist would say it wasn't a problem.

  25. Terrible news. I am so sorry to hear this, Mo. Thinking of you and Will.

  26. What a cruel turn! I am so sorry for this seemingly bizarre setback.

  27. I wish I had words of wisdom that would give you some little solace. It just seems like you are down and the kicks just keep on coming. I am so sorry.

  28. OMG...can't anything in IF be easy for us?!?! I am so so sorry. Whatever choice you make I hope it leads to your baby...soon!

  29. Oh Mo, I don't even have words. I'm so sorry (((HUGS)))

  30. I'm with M- you are NOT alone, and it isn't over. You will find a way. But I am so terribly sorry that this wasn't it.

    Sending hugs and strength and hopes for clarity when you're ready.

  31. I'm so sorry to hear this news. I imagine it's a sucker punch for both of you. It just leaves me wondering why things have to be so bloody hard for some and way too easy for others. *sigh*

    (((hugs))) to you.

  32. Mo and Will -- I'm so sorry that you've had another setback and another moment of feeling kicked in the teeth by the universe. I wanted this to be easy for you and could feel the optimism in your posts; I hope in time you feel that optimistic again. I'm very sorry.

  33. Shit. Not much else to say, is there? I'm so sorry you've been dealt another blow. Hope some clear path reveals itself to you soon. Hugs.

  34. Oh, I am so, so, so, so sorry. You more than anyone deserve to have things go smoothly and perfectly. Hugs to you...

  35. I am so sorry! IF completely sucks...just when you think that things are moving full steam ahead, you hit a brick wall. Hugs.

  36. Damn damn damn damn damn. Mo, I am so very sorry this is happening. No, actually, that doesn't even really begin to cover it. I feel sick--physically sick--that you're having to go through yet another layer of this shit. Thinking of you in Arizona. Wishing--oh, wishing so much.

  37. Will and Mo,
    I am so sorry that this happened with your wonderful perfect chosen egg donor. After all you have been through, this is just such a cruel blow.
    I want to tell you that we fell in love with our egg donor too ( though we have used donor sperm before so we were by that point a bit more blase about donors I think ). And we hadn't been through pregnancy loss. So I am not trying to compare us but just to tell you that you can survive it. We spent most of our IF time waiting for one thing or another, and not much actually in treatment or pregnant. When we alighted on egg donors we picked one that had similar ethnicity to us, was a philanthropist and looked a bit like one of my nieces. She wasn't a beauty queen, but we really liked her ( from the profile ) and felt that we could be friends in different circumstances. She got malaria on a humanitarian trip abroad ( after we waited for her to return from this long trip to start the cycle) and it was only because she casually mentioned this to the donor coordinator that we found out about it and because of it she was canceled. We were gutted. Gutted. We didn't have as many donor choices for various reasons, so we looked again with the same agency and we found someone based on coloring that fit us, but that we weren't excited about really. It felt like we were going through the motions. We were all set to cycle with her when we got a call telling us that they found out her son has asthma - are we still okay to cycle with her? We were so desperate we said yes. Not that asthma is the end of the world, but it's dangerous and can be very serious. Then a few minutes later we got a phone call saying that she was being canceled because she had had to have emergency surgery ( I think a kidney stone or something ) and had to recuperate and not cycle for three months. We did not want to wait for that - especially as we didn't know if she would be ready to cycle then. So we went back to our list of donors from before and tried some more on for size. And we picked one we had looked at before but we had thought her coloring was wrong ( I know, it's so fickle!) Anyway, she was really cute, and very sweet sounding and we just thought, we need a healthy egg from a nice woman who has a reasonable health history and she fitted the bill. So we went for it. And the egg donor coordinator called us up and told us that we had hit the jackpot. That this was the one. And she had interviewed them all. She told us how bubbly and sweet and fun and engaging the donor was. And that she had a really good feeling about her. And we went with that. And after a failed fresh cycle and a two embryo FET that resulted in twins and then only one viable baby, we have Isobel. She is beautiful. She looks like me. She is so full of joy. I am so grateful for the experience and even though I don't want you to wait another minute to have the baby you so want, I think that you can fall in love with another egg donor. Maybe not head over heels, but enough to feel great about this next step. Because at the end of it, the baby will be your baby, and you will be in love with your baby.
    Sorry if I have overstepped, I just wanted to say, don't give up. Donor eggs did it for us, and for lots of couples - and while not the magic bullet for everyone, they have a great success rate.

  38. oh, Isobel is lovely!

    I can't quite believe what I'm reading. I honestly don't think any other couple's been through as much as you two have.

    I'm so sorry for all 3 of you. She must also be devastated.

    I really hope you guys both heal from this and can see the way forward - you are wonderful, fabulous and WILL be a mother one day. I hope soon.

    Lots of love!

  39. Horrible!

    Sorry for your donor....that she found out about such a thing that is there...

    Sorry that you and Will were so attached with this donor and can't continue.

    Sorry that you keep winning the wrong lottery.

    So many hugs.....I hope you will find out a way around this setback.

    Many many wishes for a changing luck for you and Will.

  40. Don't you dare give up girl. You have more strength in you than most women I know and you will be a FANTASTIC mom for it. Hang in there. Your time, your moment, your rainbow WILL COME. You gotta believe that for yourself, as much as we believe it for you too.

    I agree that this donor isn't the right one for you because of the chromosomal abnormality. It will certainly be hard to wrap your heads around not having her as your donor, but in time, you will find the next path for you.

    Screw the depot lupron; you go indulge with some wine and raise a glass because you are strong, you are perservering and it is because of those characteristics that you have come as far as you already have. My own mom told me, after 6+ years of infertility and finally, our own rainbow appearing, she said, "Must be the family genes. You're stubborn to a fault. But if you weren't, Petite wouldn't be here. So thank you for being so stubborn." You are very much the same sort of woman. I believe in you.

  41. Crap, crapity crap crap! I'm so sorry this is awful news. Sending you lots of love.

  42. Coming out of lurkdom to say don't give up! Hang in there! It will happen!

  43. Crap...I have no words. I'm so sorry. ((HUGS))

  44. I'm so sorry Mo - what terrible luck. Give yourself some time and space to process. And be kind to yourselves.

  45. Ah, you. I know that hurts. Our first donor was rejected by my RE. I was crushed. You seemed to have a deep felt connection to this one. I bet it hurts and I am sorry you have such a big set back.

    Can you sit and digest for a bit? I know everyone is different, but consider out case. The next donor that came along fit me like a glove. It kind of works my head over when I think about it. What if my RE had approved the first donor? Blows my mind. The changes allowed me to process some more and find a better fit. Just consider our story, no questions posed to your next steps, but a change in donor was a very great thing for us in the end.

  46. Hi Mo and Will

    Lurker doc from Canada eh...don't give up. Its hard. You are hurting...of coures you are...Is this a reason to quit? If you give up now, well, can you live with the what ifs?

    We went through a few donors...one bailed on us the night before retrieval...I mean she went AWOL...just like that.

    We had another change her mind.

    We were TOLD to pack it in...

    And all of that led us to the place we are now...22 weeks pregnant with our daughter, via surrogate. Still not at the end, or out of the woods, I know, but, I saw her on ultrasound. She's real...

    All this stuff that happens? Thats life...and so it will be with the children you will eventually have. Ups, downs...I don't need to tell you.

    The question is: Are you tough enough? And I say yes. Yes you are. So get in there, and just do it.

  47. Un.frickin'.believable. I am so sorry -- sad for you & Will, and sad for her too, to get this kind of bombshell news. Sending you (((HUGS))).

  48. Oh NO!!!! Mo, I am so sorry to hear all of this. I really think the clinics should be paying for all this up front stuff and it breaks my heart that you are out 10K...ugh!

  49. It's so strange (well, I was going to say "funny" but it's not funny) reading over these sad posts when it seemed all was lost. And now you are mum to that lovely little creature!


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