Thursday, September 10, 2009

Genetics are back



We would have had a girl. She had a triploidy: 69, XXX (yes, that's right. 69. XXX. Now, knowing my luck, I'm going to get a bunch of hits from people looking for porn. Sigh). But basically this means our little girl had three full sets of chromosomes instead of the usual two. The chromosomes would look something like this:



So far, my RE has said by email: "Random event. Not age-related. Not likely to repeat. Not compatible with life."
Wonderfully fast response time with the email, and the info is much appreciated. But he's kind of the king of brevity, no?
At the moment, I am relieved to find out there is nothing I could have done differently, nothing I did to harm the baby. That helps to know. Enormously. At the same time, I am stunned that we're having another random* and unlikely* bad event.
Just to review, here's the line-up of pregnancy disasters over the past two years:
Pregnancy number 1 (9 weeks, after IVF): monosomy x and trisomy 21
Pregnancy number 2 (7 weeks, natural): lab loses sample (aarrrgh!)
Pregnancy number 3 (5 weeks, natural): trisomy 16
Pregnancy number 4 (chemical, after IVF): too early to test
Pregnancy number 5 (9 weeks, natural): triploidy
Oh, and in addition: 5 IVF cycles with 14 good-looking embryos transferred. Fourteen!!!
Are we really unlucky or is it just me?
We meet with the RE tomorrow to discuss options. More to come.
As always, we welcome your thoughts. It helps to know you're out there. And maybe one of you will have an idea we haven't thought of.
Mo
*How often do "random, unlikely to repeat" things have to keep happening to not be random and unlikely anymore? And is it too much to ask for some random good things happen occasionally?


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35 comments:

  1. I'm glad you found some peace with your results, but it must have been difficult at the same time.

    I believe that lightning can strike twice in the same place, but three times? If it were me, I would have to believe that more than a random event is happening at this point. I think sometimes it's hard to get clear answers as there is so much that is still not known about reproduction.

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  2. I'm sorry. I know the feeling - how often is it actually possible to be on the teeny-tiny side of the crappy odds? In my own case, I'm thinking it's possible to be on the wrong side EVERY SINGLE TIME. And it sucks.

    I'm currently in the "bug my RE for results" phase of my post D&C wait, and I'm looking forward to knowing but also dreading the info I'll get. You know the drill.

    Thinking of you. Hoping that knowing the results makes something - anything - easier, but also knowing that's sort of a futile hope at this point. Thinking of you

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  3. I say stand by your gut feeling of "this is not a coincidence". And, given that the results are showing three copies in various forms, it makes me wonder if it's not a segregation problem. I'd be asking what kind (if any) testing can be done on both of your gametes, as there could be an issue there that isn't showing in blood tests.

    I used to work in a cyto lab, but I'm by no means adequate with the information. This is just my logical thoughts on what you posted. I wish you both the best.

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  4. I am so sorry. I know what you mean, I had a cervical ectopic pregnancy. The chances of that are so small and it is just unfair that not only do we have to go through IF but then we keep hitting these rare unlikely events. It sucks and I wish I had some great advice but unfortunately I don't. What I do have is a great ear and I am here supporting you in everything. ((HUGS))

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  5. I'm glad it wasn't anything you did, but you're right, it sucks that this "random" thing happened to you again.

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  6. Hi Mo,

    Have you consider getting a microarray done for you and Will? It is quite unusual to have multiple pregnancies with chromosomal variations. I would suggest that you and Will meet a MD geneticist (not genetic counselor) who specializes in recurrent pregnancies with chromosomal variations before proceeding with future pregnancies.

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  7. I'm sorry again for all of these losses, it is truly not fair. But also glad there wasn't something more globally wrong.

    It sounds like you are a perfect candidate for CGH or mircoarray, where they test all 23 pairs of some placental cells of a blast. Prior to transferring them back in. I'd chat with CCRM again, they can do this for you. At least you'd know that the blast they are transferring back to you has a complete chromosomal set, unlike many (if not all) of the previous pregnancies you've had.

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  8. Thank you for your comment on my blog, Mo. As you know we'll be awaiting the chromosomal analysis on our 2nd loss after tomorrow's D&E. I don't know if I'm rooting for it to be a chromosomal issue or not. If it is, then maybe my eggs are just crap or maybe a geneticist can help. If not, then I'll forever wonder if the travel out of the country last month doomed the baby. But then maybe my eggs are not always crap.

    While it's lovely to get the "not likely to repeat" diagnosis, hello?? How often can people be told to assume the best when history doesn't support that assumption? It's got to fall in your favor one of theses days. It is positive news that this isn't a recurrent chromosomal issue, even if the analysis by the RE was trite. Many P&PTs that next time will be the one for you.

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  9. Gaa, I'm so sorry. I can't believe how much random bad luck in a row for you all. All that randomness is becoming too much of a pattern! I'm glad you're taking time out just for yourself and to reconnect with Will.

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  10. I hope your random GOOD things come soon!

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  11. Wow. I'll definitely be following your journey. My last miscarriage was triploidy XXY, and I was told all the same things, but I can't help feeling the same way. How do I seem to always get these random problems? I will say that they are a lot more common than most people realize. Let me know if you find out about any further testing that can help (past the normal recurrent pregnancy loss genetic testing).

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  12. I don't know what to say that would be useful, except that I do think you are long overdue for some positive randomness! Thinking of and hoping for you.

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  13. Well, I guess I agree with the others--stick with your instincts that this might not be random at this point. I'd consider microarray or CGH testing on any future embryos before transferring....but now I'm sounding like a broken record. First with the Rent references, now with the CGH references...sorry about that! miss hearing from you.

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  14. I'm sorry Mo. I know exactly how you feel - how often can one be on the "random" side of events?

    I'm not sure if you have had your karyotypes done. If not, have you considered it? Would PGD / CGH be an option?

    Sorry if I'm giving you assvice you don't want. I wouldn't want to hurt you at all, so I hope I don't offend you with my questions.

    ((HUGS))

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  15. Oh Mo, I have so had the random sh*t happen too, and well, when random highly unlikely bad things happened over and over again I thought wow, I wonder if I am storing up a whole lotta random good things that will happen to me, and I hope with everything I have for the same for you.

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  16. I have no wisdom to impart but wanted to say this:

    I think science and doctors fail us so often. Things that are "undiagnosed" are often real issues, doctors just don't know yet why, or how to narrowly define them.

    I guess for me I would go to the ends of medical testing (within my means), but even if all the tests came back normal, I still wouldn't necessarily believe that.

    The other question I would be asking myself is would my course of action change based on results (given that they will probably be inconclusive, at best). If not, maybe it is not worth it.

    Hugs.

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  17. I don't have any suggestions, I'm just sorry.

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  18. Glad you have your results back... and YES, my... King of Brevity is putting it nicely.

    Ugh, I'm feeling for you while looking at that list. I don't have anything smart to add... just my support and best wishes across the blogosphere.

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  19. So sorry :( CGH was the first thing that popped to mind reading your post....

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  20. I ask myself that very question a lot these days. Is it just really bad luck, like the doctor's say? How many times in a row can I seriously have such bad luck?

    I'm not ready to give up either though. I'm about to hop back in those stirrups again, for try number.... have lost count!

    May both of us have our odds turned around in the near future!!!

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  21. I'm glad you have an answer, but really, 3 trisomies out of the testable ones?
    I'd really be considering IVF with PGD at this point were I in your position. I know it's expensive, but I'd be unwilling to risk my heart many more times, and would want to know that what was about to implant has a real chance of developing.
    So ditto what many of the other clever ladies have said before me.

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  22. you have to be due for some good stuff. seriously. all of these "randoms" put together are statistically significant, don't you think??

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  23. I am so sorry. I remember the day we got the results on MC number two- Trisomy 18, also a girl. Also a random event (I had three of those...) which was comforting and yet, not.

    I too am glad that you have the peace of knowing you did nothing wrong, not a thing. I wish I had an answer, an inkling for you, but I just wanted to offer my thoughts and continued baby wishes for you.

    Hoping the consult with the RE reveals something or gives you the hope you need.

    Big hugs.

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  24. Mo! I wish I knew what to say. I can't even begin to imagine the mixed emotions you must be feeling. It is good to know that there is nothing you could have done. But DAMN!

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  25. I am sorry. I am glad you got the results. I will be thinking of you.

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  26. Don't have anything to suggest that others haven't already brought up, so I'll just say that I'm thinking of you.

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  27. This is pathetic...if people fall unlucky totally by chance...then it is understood...but for luck to randomly turn adverse, again and again....is horrible!

    I do not have words of wisdom on this....I know of S from By the Pricking of my thumbs who too has lost five trimester babies, and two girls in the second trimester...and all for different reasons....

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  28. I got nothin that hasn't already been said. Wondering if you are considering rescheduling with CCRM for their take (and they would probably do CGH)...if nothing else CGH would let you know what you put back was normal...which would lessen the possibility of these horrid losses due to genetic reasons.

    And if CGH came back that they were all abnormal, well, then you'd have another kind of answer.

    Thinking of you. Sorry there's nothing more I can do.

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  29. Thinking of you often and hoping you find answers.

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  30. About time for some random good things to start happening me thinks. Wishing you all the best with moving forward.

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  31. I would do CGH testing if I were you. I know you probably have concerns about making it to blast so I would go to SIRM instead of CCRM as they do the biopsy on day 3. :)

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  32. I just want you to know that I'm thinking of you. I know that the news of a concrete cause can be helpful in terms of understanding but doesn't make it any easier to cope with the grief. I just really hope that those odds turn around for you very soon and the next random thing that happens brings you all the joy you deserve.

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  33. Another one who recommends CGH testing. SIRM is another US clinic that offers it.

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  34. I have too much in common with you. Please contact me because I have been through it all too. I have had 10 losses - all missed miscarriages. It is clockwork for me - good heartbeat at 6 weeks, slowing at 7, stopped at 8. Genetics have all been normal save for one.

    I have also done ALL the immunology stuff and none of it made a difference except to deplete our pocketbook. Be careful with this.

    I would love to talk via email and compare info. I have started another IVF this month.

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  35. MP, your profile is not public. I have no way to contact you.

    Mo

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