Tuesday, September 15, 2009

It's not exactly hope, but it's something

The universe must have heard my despair over the past two days because this morning I received a surprise call from the geneticist's office that she had a cancellation and could see us today. So we went, grateful to get in before October and expecting a thirty-minute consult.
The M.D. attending, a resident, and a genetics counselor met with us as a group for 1.5 hours. The attending took an amazingly thorough history, explained a number of things, and seemed very interested in educating us and in getting to the bottom of our situation as much as possible and offering us tangible recommendations.
You could see the cogs turning in her mind as we told our story and produced our records. I was slightly embarassed (although she said it was extremely helpful), that one of the things I'd brought was a written summary of our pregnancies and IVFs (adapted from a link on this blog, no less). She asked a ton of questions, humored ours, and really validated where we are at emotionally.
And she broke things down into categories. The "what we know" and the "theoretical."
What we know: We've had two trisomies and one triploidy. We've had three failed IVFs, with many embryos transferred. Plus two other untested miscarriages.
Theoretical: We've been told to presume chromosomal problems for the lack of implantation and for the two untested losses. She said maybe, but maybe not.
One thing she cleared up right off the bat is how this latest triploidy is different from the trisomies. She explained that the mechanism that produces triploidy is unrelated to sequencing errors that cause the trisomies and is most likely two sperm fertilizing one egg. And in that case, the three sets of chromosomes were all in the right places, there was just an extra copy of all of them (hence XXX 69). That is why this latest miscarriage is truly not adding to our risk and is a bad luck event. It is not another disjunction during meiosis, it is entirely different. We finally understood this (or maybe Will had understood before, but *I* finally understood it). She took an incredibly thorough family history, going back to our grandparents, and seemed shocked that no one had done this before.
We also talked about my cancer history, and she seemed genuinely open to that having caused a chromosomal issue, but she expressed puzzlement as to what specific mechanism would have resulted in oocyte damage. She left the room and called a lymphoma genetics expert at Memorial Sloan-Kettering to consult with him and came back and said that there is no apparent linkage between recurrent aneuploidies and the chemotherapy regimen I had. The many CT scans, gallium scans, and PET scans I have had over the past ten years are potetentially another matter, but one that is hard to quantify. (She was slightly aghast that they used to give me neck, chest, abdominal, and pelvic CT scans every two months for the first year of my remission).
Ultimately, she said that she will present our case at an interdisciplinary team meeting later this week that will include obstetrics, IVF doctors, and other assorted genetics folks. She will then call us with a summary of their discussion and recommendations on next steps.
I'm trying to steel myself for the fact that there will almost certainly be no magic answers from this but it was so, so helpful to get to ask all of our questions and be able to talk to someone who is an incredible re searcher, excellent teacher, and gifted clinician. We'll see what the team has to say.
So for now, we wait. Today was a little bit of a gift. And it came just when I needed it most.
Mo
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32 comments:

  1. I am so happy that you got to have that meeting. You deserve some answers and I hope that they can at least give you some. And a little bit of hope would not hurt either. Sending hugs and good thoughts your way.

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  2. No one can say that you aren't doing your best to get answers and find the right path.

    I heard some promising things in there. This last miscarriage was different. The chemo shouldn't be a factor. They are presenting your case to a bunch of people who are way smarter than I could ever hope to be.

    I hope you get some (additional) ideas and options.

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  3. Wow. What perfect timing to have this happen. She sounds wonderful, and I'm excited that there'll be a case conference to discuss your case. I hope that even if they can't definitively come to a diagnosis, they can manage to convince you that one path forward is the logical way to proceed.

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  4. Ah. Looks like the wizards may be gathering. A new view of the facts will hopefully be refreshing.

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  5. Wow! That's awesome!

    Much better than what I get, which is essentially, "You've just got really bad luck".

    This is really interesting. I can't wait to hear what the panel thinks.

    Thanks for sharing.

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  6. That is great news that they were able to get you in early. Sounds like your team is not only helpful, but willing to look everywhere to help you find answers.

    Here's hoping the interdisciplinary team will give you new ideas or direction:)

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  7. I'm so glad that you were able to go to that meeting! I hope their panel discussion goes well and that they can come up with some answers or a plan to find answers for you.

    You guys are constantly in our thoughts and prayers!!!

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  8. Mo, I hope she recommends that you and Will get a chromosomal karyotype or microarray. I have read cases where one of the parents have chromosomal rearrangements or translocation, resulting in multiple miscarriages. I'm glad your visit went well. I am surprised that you have never seen a MD geneticist previously. We are cheering for you.

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  9. Just read your links by Dr. Liccardi about PGD. That's exactly what my doctor said, just because you get one normal cell doesn't mean the others are going to be normal.

    Interesting links though. I love his blog.

    Thanks!

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  10. Wow, I'm amazed that you were able to meet like this with such a great bunch of minds. I hope that their further discussion gives you some specifics. You are in my thoughts.

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  11. That is great - it has to feel good to have a team behind you, working so hard to get answers.

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  12. That's wonderful. It sounds like there's hope to hold onto in there!

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  13. That's great that you had a great consult. Sounds like you are in good hands. Can't wait to see what the experts come back with.

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  14. Well, good. I'm glad it finally seems like some answers might be within reach. I and my three children all have a fairly obscure genetic syndrome (I didn't find this out until #3 was born rather sick and Genetics got involved and then started looking closer at the oddities with the rest of us) and I must say, Geneticists strike me as some of the very smartest doctors EVER. It's really amazing to watch them do their thing; they really leave NO stone unturned. Ours had me create a photo timeline of the youngest child's facial characteristics, measured his ear placement and epicanthal folds with wee little caliper-thingies, inspected everything from his dentition to x-rays to the lengths of each individual digit, and called on dysmorphologists and pathologists from across the country to make the diagnosis. While there's nothing fun about having a potentially serious genetic defect, it was rather remarkable to watch the process in action and I always come away from our appointments with Genetics (they follow my kids) feeling like every possible treatment has been investigated and that we have screened for any problems more likely in our family than the general populace. Of course there are still a couple of things that remain a mystery, but when it comes to the things that go wrong with the human body I think Geneticists have more to offer in terms of enlightenment than anyone else except for maybe the Medical Examiner :)

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  15. I love that you were able to do this...and I know there are no magic answers, but it sounds to me like instead of finding one wizard, you found an entire panel of them. For me, knowledge always helps. Any little bit of insight into your situation cannot be a bad thing.

    Hope you get some answers...

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  16. Wow, I'm so happy for you that you were able to have this incredible appt! Thank you for posting the details - I go in to meet with my OB next week to find out the results of the tissue analysis of my latest loss. I'm 99% sure it will be a chromosomal issues and planned to talk to my OB about seeing a geneticist. Your detailed post helps me understand how they fit in to understanding why this happens to some of us. GL and I hope the doctors can come up with a solution for you.

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  17. I am so glad you got that call yesterday! I agree that it sounds like the meeting of wizards that you were looking for.

    I have my fingers crossed for you that they are able to give the information you need to proceed.

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  18. that is great that you got that input, and that she will search for more input for you!

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  19. I love that the whole "panel of experts" idea. Sounds like they are being very thorough!

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  20. wow - sounds like that was a wonderful meeting. it's not answers.. but it does seem more likely that you will get some valuable knowledge out of these nice folks.

    and what a bonus that all these smart people were also nice and caring!

    cant wait to hear more of what they think.

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  21. Wow! This is all really fascinating to me, though I wish you were not the guinea pig in the equation. Hoping you get some good answers and sound advice.

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  22. How wonderful to have so many strong and diverse minds putting their heads together for you. I'm a firm believer in the power of combined thought. While there may not be clean, black and white answers, I hope they offer good options that will guide you to a comfortable decision.

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  23. Wow - a whole panel of wizards! Here's hoping they come up with a good, workable solution for you. Soon. Hang in there, Mo!

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  24. i am so happy that this worked out earlier than expected. it's so nice when you finally get to talk with someone who might *get* it or at least has the potential to shed light on the situation in other ways, right?

    thinking lots about you. very excited and hopeful for what the team of wizards says!!

    xoxo

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  25. Glad you had this day. I hope this team can get to the bottom of this and help you move on to a successful pregnancy. Wishing the best for you.

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  26. I am so glad you were able to get into today and get some of your questions answered. I can't wait to hear what the group says later this week. Thinking of you two!

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  27. Wow, sounds like you've got a great doctor. I had wondered if your cancer history might have affected your eggs. I'm glad you feel like she's leaving no stone unturned.

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  28. Oh Mo, I am so happy that you and Will were able to sit your brilliant minds down with other brilliant minds and talk so thoroughly about your history. Any form of comfort to you is a comfort to all of us hoping and praying for your well-being.

    Chalk one up for Team Mo and Will.

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  29. holy crap, that sounds amazing. She sounds amazing. I also love folks who are willing to rise to the challenge and not just accept the easy answer as The Answer without exploration. And to have a posse of experts to consult with? Priceless. How great you did not have to wait and how great she will be back to you so soon.

    thinking of you and hoping for helpful information and the resurgence of hope.

    xo
    Kate

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  30. hopefully you have found your wizard.... i'm still looking for mine :)

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  31. I am so encouraged for you -- I feel like this was a huge step for you toward an answer. I sincerely hope that you hear something definitive back that makes the next step very clear. Thinking of you.

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