Standard post-miscarriage freak-out

I am contemplating what we should do. Procreatively, I mean. Round about now, when the miscarriage spotting has slowed to a mere panty-ruining surprise and the memory of morning sickness (if any) has faded to a blur of unpleasantness, I start to reconsider our options.

Steve, as I have said, is a mutant. When those first few cells in his body got together there was some confusion, a misstep, a pardon-me-no-no-pardon-ME, and somehow part of his fourth chromosome wound up stuck to the bottom of the first chromosome, and vice versa. This is generally a de novo, or spontaneous, event. It just happens. PERSONALLY, I think that Steve's little de novo event might have been helped along by the fact that his birthmother conceived him while hookahing her way through Marrakech during the Summer of Love, but no use pointing tobacco-stained fingers and godforbid that someone should ever examine my own summers (say, 1986 through 1996.) Where was I? Ah, seeking a balanced translocation metaphor. So we all have pairs of chromosomes and Steve has one normal chromosome in each of sets one and four. The other one is like a pretzel rod dipped in chocolate, and a chocolate rod dipped in pretzel batter. Confused? Allow me:

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Did that help? Ok, imagine four sticks: two blue and two red. You snap off part of one red stick and one blue stick and then glue the snapped off pieces on to the stick of the other color. You now have four sticks: one blue, one red, and two blue-red. This is Steve. When the body goes to produce sperm it rummages around and pulls out two of these four. One all red and one all blue? Cool. This is Patrick and me and probably you, genetically normal. Two blue-red? Also cool. This is balanced and all of the necessary genes are around, just some of them are in a weird place. One red and one blue-red, or one blue and one blue-red? Not cool at all because you have too much red and not enough blue (or, again, vice versa.) That's an unbalanced translocation and, in our case with the specific chromosomes and genes involved, they don't live.

In theory, and what our genetics counselor told us, is that we have a 50% chance of getting the first two scenarios and a 50% chance of getting the last two. Two things she did not mention though. One is that balanced translocatees tend to produce an abnormally high number of aneuploid embryos. Aneuploid is a way to describe the wrong number of chromosomes in a cell. A monosomy is just one of a given chromosome and these are generally so fucked up they don't get very far at all. I don't think a person has ever been born with a monosomy but I could be mistaken, you know, being an English major and all. Still, let's just put monosomies under the heading of Really Fatal. Trisomies are what people usually think of when genetic problems are bandied about and they look smugly at Dakotah and Mackenzie and say that they would never, under any circumstances... whatever. Down's Syndrome is a trisomy 21, where the person has three copies of the 21st chromosome instead of two. So they have all of the required genetic information, but there is extra. How a person develops with this extra information varies drastically, therefore the wide range of capabilities a person can possess with Down's. The next most common trisomy is Trisomy 18. This frequently ends in miscarriage and 90% of the time a child born with a Trisomy 18 will die before they turn one. Depending upon your point of view, these are the good trisomies. They occur so frequently because a fetus can often survive gestation with them. When people say that miscarriages in the first trimester are most often genetic, they mean that the embryo carried some aneuploidy that was incompatible with life.

I digressed so far that I needed to start a new paragraph even though I had failed to complete my thought. So, balanced translocatees produce unusually high numbers of aneuploidies with their affected chromosomes. Steve might be churning out sperm cells with only one chromosome four, or three. That means that there aren't four possible combinations but fourteen. These all don't occur with equal frequency though, so I have no idea what our actual odds are. We could have Steve's sperm tested to see what percentage are balanced/normal and what percentage are knife-wielding single-celled sickos, and I think I would like to. If Steve is consistently sending forth army after army of the undead then I would be much more inclined to start looking in the higher-rent reproductive neighborhoods.

Which brings me to our options. Our first option is to do what we have always done: have sex more or less every day until a pregnancy occurs. This is cheap. It is easy. It is quite convenient. And, once, it resulted in a take-home baby. Oh! Oh wait! Our REAL first option is to give up. Stop trying. Let it go, as I was recently told by somebody whose ability to relate to our situation is nil. That is actually an easy one to reject at once, since the thought of another miscarriage brings only a premonition of anesthetized gloom whereas the idea of never having another child gives me an overwhelming sense of all-consuming shrieking black despair. So, thank you for the suggestion, but I don't think I am ready to give up yet.

Our second option is IVF with PGD. Take the eggs, add the sperm, grow the embryos, test 'em, then put in the normal/balanced ones. I keep putting this option in the Maybe Next Time column.

Why? I don’t know. The same reason I went to a casino twice in my life and am now prohibited by my husband from ever entering one again. I have unreasonable optimism in the face of statistical probability. Although do Infertility Clinics have waiters named Jonathan that bring you free vodka tonics every time they walk by? I don’t care how much they water down that vodka- you drink enough of them and you’d be doubling down on 6 too. Just as I start to worry about whether IVF would even work for us (would we even have any genetically normal embryos to transfer?) I find I am being bent sideways by the unmistakable pain of ovulation and find myself thinking Oh what the hell, hit me (carrying forward the whole casino metaphor, you see.)

I am not even sure if the third option is an option at all, but I just got a really interesting post from my cyberpal and fellow genetics martyr, Julie. She mulled over the possibility that we could use sperm washing techniques to increase our chances of isolating the healthy ones. They can use a centrifuge on sperm and roughly separate them into male and female carriers (the X chromosome being heavier than the Y chromosome.) In theory we should be able to spin Steve’s sperm and the monosomies and unbalanced arrangements would float up, the trisomies would sink down, and the middle band should be a grouping of balanced and normal sperm. The fact that neither of us can find anyone who has actually done this aside, I feel like it might be worth pursuing. We could couple that with injectibles, maybe, and increase our chances all around. This is EasyBake Oven science, just so you know. I have no clue if any of this is practical in our case or any case, it just seems sort of logical.

I am seeing my OB on Monday. My inclination is to move on to a Reproductive Endocrinologist at this point to see if we have missed anything. A fellow blogger kindly gave me a warning on the risks of post D&C uterine scarring, for which I am grateful, and I want to ask if there is sufficient cause to investigate that possibility as well.

In short, I might sit here like a miscarrying fool for five years, but just watch me spring into action now. Hot-cha!