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.
17 hours ago