The visit to the perinatologist-- There's so much to say and at the same time, so little. He spent a lot of time telling us about different chromosomal issues that could come up, and we spent a lot of time patiently listening to him. (For the record, we're there because of Partner's age: 37. It puts us in a higher risk category for certain chromosomal disorders.) It was a lesson for me-- If I am ever in a situation like that, I'll try to ascertain how much a person knows before (surface) lecturing them on a topic. I would have thought when I referred to Cystic Fibrosis as autosomal recessive, he would have copped on that perhaps I knew a little more than he was giving me credit for. But then again, maybe not. In any case, we were intent listeners. What we got from the consultation may help some others who are in this position, so I'll try to sum up in a helpful way and then explain our own choice. (Feel free to skip the test summaries if you know it already.)
One: There are screening tests and diagnostic tests. The screening tests, the quad screen and the nuchal transparency, have the advantage of no risks associated with them but the disadvantage of having fairly high false positive rates. In terms of the quad screen, the false positive rate can be 10-15%! The nuchal is slightly less with its 3-4% false positive rate, but a positive is any odds greater than 1 in 270. Huh. Now to me, a false positive sounds horrible-- and once you get a positive, you need to make a decision: do you now go to a diagnostic test, the results of which are apparently irrefutable?
Two: The diagnostic tests, CVS (Chorionic Villi Sampling) and aminocentisis will tell you definitely if there is a chromosomal abnormality, but the risks of miscarriage are greater here. One could argue that it's pretty minimal in the case of the amino, with a slightly higher risk with CVS. (Dr. BusyBusyBusy told us to stay away from CVS and since we love him, we're listening.) It will take approximately an agonizing two weeks to get the results from these tests and be in the clear for miscarriage risks.
Three: There's a timing issue with all these tests. If you want the nuchal, it has to be before work 14, which is rapidly approaching for me. At this test, they will do crazy measurements of neck tissue and then plug in these measurements along with the results from your PAPP-1 blood test (also essential for the quad screen, and this first blood draw will also need to be completed before week 14). If this test comes back negative, breath easy (or easier). If not, then you will have to decide-- do you want the CVS, which can be done immediately but with higher risks of miscarriage than the amino? Because if you want to wait for the amino, you've got another two weeks on your hands to live with the positive from the nuchal before you can even get the amino, and then two weeks again after that to be in the clear and get the diagnosis. Of course, you can have the amino earlier, but the risks go up again! (Surprise!) Could you really wait? the perinatologist asked us, and we sat on the too comfortable love seat with our mouths agape.
Four: If you just want the quad screen, you need to quickly get in for the PAPP-1, the first blood draw, wait a few weeks, and then go back for the other three blood tests, and again, a crazy algorithm is employed and voila! Your results are in... But don't forget that insane false positive rate. If the test is positive, again, do you now do the amino? You know the risks and there's always the tragic option: you have the amino, you miscarry, and two weeks later the diagnosis comes in: normal. Shit. I can't even imagine. Or, you have the amino and two weeks later the diagnosis says, "Yes, your kid has a trisomy 18 and will die soon after birth after being hospitalized for months." Or, "Yes, your child has trisomy 21 and will be born with Down's Syndrome."
We walked into that appointment sure that we were pushing for the nuchal and quad, and we walked out in a fog. We sat with our perinatologist for a long time and talked about the ins and outs of all of this. I called my mother who wisely said she wouldn't know what to do unless she was in the situation, but took all sides very seriously. At the heart of the matter is what you do with the information, and at the very heart of that heart is the question that lurks: if you find out the kid is not chromosomally normal, are you going to terminate? Or do you just want the knowledge to have the knowledge?
As you might imagine, Partner and I talked a long time about this. It involved some really intense discussions that have brought us even closer together. Here's the thing: We both already love Cricket. Cricket is very real to both us, and to think about terminating at this point, for us, is too much to think about, although we both took care to note that was purely our decision, others might decide otherwise, and we get that. Like every parent, we just want our kid to be normal, but if its not, then that's what we get. We spent more money than we had to get here. This was our last cycle of IVF with Partner's eggs, and it worked. Maybe that's all that is important right now.
I also decided that when you have kids, everything could be an odds game
. If I let my kid swim in that lake right now, the odds of him drowning are 1 in 2,811. Should I let him go? If I let the child go in a car, ever, her odds of being hurt in an accident are 1 in 228. The odds the children will be a victim of assault: 1 in 211. Maybe this is our first lesson in letting go a little. It's dangerous to be a kid, but it's so much fun too. Don't you remember climbing up the branches on the tree that would be bend under your weight and waving down at your mom, who was imploring you to maybe just come down a few branches? But the thing is, that initially your mom let you go that high, even if she wanted you to come down immediately afterward. As a parent, there was a risk, an assessment, and choices made.
We won't be able to protect our children from any of the scary odds all the time. We'll do what we can to lessen the odds, like we'll teach them to swim early and we'll never let the car roll without a seatbelt and there will never be a firearm in the house, but... Everyone knows what happens to the best laid plans. Eventually you need to just do what you can to sway the odds, but also trust in the universe at large.
So that's the thinking that has lead us us to our choice. I can eat right, exercise, take my prenatals, get good prenatal care, mediate, read, etc-- all things to sway the odds of having a healthy baby and what I can't control, I just can't. So we're going to, some might say, stick our heads in the sand and hope for the best. No genetic screening tests at all. Goodbye nuchal-quad-cvs-amino fears and hello naive but hopefully not ill placed trust in the universe.
Sometimes it feels really good to let go.