I got an email from an exceedingly kind woman/PhD in genetics/expert in chromosome biology this week that managed in a few succinct paragraphs to utterly turn me sideways on the necessity of having CVS done this time around. Considering the fact that moments prior to receiving this message I would have put my personal need for early prenatal testing second only to the zeroth law of thermodynamics in terms of that which is inviolate, it was really quite an impressive feat. I guess I am just a sucker for an impressive curricula vitae, a few pretty compliments and the use of the phrase "the translocation quadrivalent segregated 3:1 in meiosis" followed by a Lemony Snicket reference.
I would only embarrass myself if I attempted to recreate her elegant prose, but the gist was that PGD is much more reliable than I think it is. So, to paraphrase, if the embryos look like ducks and quack like ducks and PGD'd like ducks it is not entirely unreasonable to consider NOT defenestrating them just to prove they might be ducks.
More so than the remarks of a friend of mine (*) I found many of your concerns and suggestions quite helpful.
Let me back up a bit first and explain where I am coming from, in general. Although I know that choosing between a second trimester termination and a third trimester stillbirth is not the worst thing that has ever happened to anybody it is, quite definitely, the worst thing that has ever happened to me. Yes, the majority of our abnormal fetuses died before twelve weeks but one did not. One survived despite really significant problems and it was unclear how long he would continue to do so. Days, weeks, another month or two? There was zero expectation that he would survive to be born, but how long the pregnancy might continue was anybody's guess. So as much as I kept repeating no no no I don't want to do either no no no, please, no we had to make a decision. To this day that experience reigns for me as the most traumatic of my life. It was... it was HORRIBLE. I was in physical agony and sad beyond belief and I felt alone and helpless and ashamed. And I am absolutely certain that I never want to go through that again. Short of giving up on children altogether (which at the time would have meant that Patrick would never have been born), I vowed to do just about anything to avoid a repeat of that misery.
So early prenatal testing is important to me, perhaps in ways that those who have not been in my place cannot quite understand. Of course I do not want to endanger a healthy pregnancy any more than anyone would (even less, if that were possible, because they are so hard for me to come by) but the ramifications of not getting early information are still very real and raw to me.
Under normal circumstances (that is to say, a non-PGD'd pregnancy) I would never consider not doing CVS if it was at all possible. I opted for amnio rather than CVS one time and... well, we just talked about that. It is not a gamble that I am ever willing to take again. Not only is the worst-case scenario so freaking terrible, the risk of it happening again are quite real. We are not talking about the more familiar odds of an over-35 year old woman who is the typical candidate for prenatal screening and testing. We are not talking about what I would or would not do to avoid a 1-in-200 chance of raising a child with survivable defects. That is not our problem and frankly I am glad it is not because I think that must be very hard in its own right. When Steve and I approach CVS it is with the understanding that statistically we have a 50% chance of detecting a lethal genetic arrangement and anecdotally our experience has been that such a defect has existed in excess of 90% of the time.
However
We did do PGD. Unlike an unassisted pregnancy we do have some reason to believe that the embryos are just fine. The question in my mind, though, was how much reason was it, really? Having been burned by PGD results in the past I was seriously hesitant to put too much faith in them. Which is where the nice email came in so handy. Although both REs and my PGD guy have assured me that PGD testing is actually pretty damned good I felt that they had reason to mislead me. Like the blasted commissioned saleswoman who assured me I was FABULOUS in that red dress (hint: redhead. possible but not bloody likely and in this particular dress most assuredly not), I felt that they might have ulterior, possibly mercenary, motives. But a random reader who just happens to be chockful of useful information on the care and feeding of chromosomes? Her I can believe.
So once I ratcheted back the risk scales a bit the dilemma changed. If the embryos are, in fact, less likely rather than more likely to carry unbalanced translocations, the need for CVS becomes a little harder for me to assess. Which is where the rest of your comments proved helpful.
Originally your suggestions for scans and NT screens were greeted over here with a sigh of regret. Because the proven relationship between increased nuchal translucencies in the existence of the more common trisomies does not exist with our translocation. There are so many billions of possible weird little genetic combinations out there asserting themselves in all kinds of random phenotypical ways that it would take thousands of lifetimes to track even a tiny portion. In other words, there is no research that says that the absence of an increased NT means anything at all with our translocation. However, as a few of you noted, we DID see an increased NT (and cysts in the brain) at least once around eleven weeks and possibly twice. Soooooo... what the hell. Why not err on the side of optimism this time? (huh. I realize it sounds ludicrous to describe recognizing the possibility of identifiable defects as optimism but work with me).
I cancelled CVS and scheduled an NT screen instead with the understanding that if there are any obvious anomalies we will do CVS immediately. And whether one fetus or both looks odd at that point will determine who performs the CVS, so much so that I am not even going to worry about it yet. The compassionate doctor will do the NT screen and we'll go from there. I could explain the logic of using the more ethical practice but I am afraid it will sound rather clinical and I do not want to offend anyone, so I will not.
All of which is to say: change of plan and thank you very very much for your comments. They really helped me to make what I think is the best decision for us and I quite literally would never have reached it without you.
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Patrick spends about seven hours out of every day making up riddles and then sharing them with me. If you just winced, thank you. If you think this sounds cute send along your phone number and I will have him call you instead.
It all started with a box of popsicles that had riddles on the sticks. Patrick thought he could do better. Some of them are actually pretty good:
Where does a bear park his car? In the Grrrrrr-age.
How does a cat cut the grass? With a lawn meow-er.
What was the kitten's favorite TV show? Deadliest Cats (thank you Steve! now I know what you guys do down there when I am cleaning the kitchen after dinner)
A few are rather esoteric:
What did the cat say to the dog? Bark!
Some make no sense whatsoever:
Why did the tree grow? Because he thought he was in Afghanistan!
And finally there is the new genre introduced by his three-months-older and slightly more sophisticated West Coast cousin, the bathroom joke. I will spare you the details but the punchline is always a variation on: because he wanted to pee on him! Ho ho ho.
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Ah, Patrick. Now that I have the three/four years almost behind me I feel qualified to say, man, that is a freaky little stage, isn't it? I was looking at some pictures from the past two years recently and each one was... oh, there's Patrick with his beloved American Heritage dictionary! aw, there he is with a pencil in one hand, a calculator in the other and an insane gleam in his eyes! I have often wondered why I shared so much of my angst with you about Patrick's oddness when it was more often than not met with loud sniffs and muttered rumblings about obnoxious bragging, but as I was looking at these pictures I can understand my weak need to confide. It WAS unnerving. He was weird.
I have spoken to a lot of preschoolers by now, though, and I have concluded that they are all weird. Patrick has a friend at school, a very nice bright kid named Odin. Over the past year Patrick was bringing home increasing amounts of information about dinosaurs, a subject in which he had previously shown zero interest.
"Where are you getting all this stuff about dinosaurs?" I finally asked, curious.
"Odin."
"Oh, so Odin knows a lot about dinosaurs does he?"
"Mommy," said Patrick with an emphatic hand gesture, "Odin knows TOO much about dinosaurs."
Every time I think about that I laugh. I remember writing a post two years ago about Patrick's alphabet obsession and people wrote in to talk about their similarly aged children's single-minded pursuits. The two that stick out for me are the little boy who was fascinated by the skeletal system and the little girl who would go around the house with crayons trying to match the specific colors; not blue, you understand, but peacock vs prussian.
I kept wondering when Patrick was going to start reading less for the pleasure of stringing sounds into words and more for content. He has had picture books he likes to read (Bad Kitty springs to mind. we recommend it) but it took him a while to connect an interest in a subject (say black holes) with a desire to read about it. A few months ago he developed a passion for poetry, mainly the works of Shel Silverstein but anything remotely funny and directed at children will do. From there he has spread into other things, science and nature books for the most part. There is a series of books on animals (Why Do Snakes Hiss? Why Do Birds Sing?) that he is enjoying right now (provided I can keep finding more at the library and provided he stops wanting to then acquire said animal as a pet. a snake in my house? not. going. to. happen.) For thirty glorious minutes on the flight home from South Carolina Steve, Patrick and I all sat in a row silently reading our respective books. It was a consummation devoutly to be wished.
Other than that he is all about Legos and racing Matchbox cars and finding bugs outside. He lucked into a very obliging catepillar he named Celea that we set up in a jelly jar and who promptly spun a coccoon right before his eyes. I felt a sit-com mother, what with all the childlike awe and wonder.
He is starting the Montessori camp this week and I hope he likes it. I still don't know what to do about the Y camp, though. I talked to a friend of mine this week whose daughter has taken a few Y classes with Patrick at our branch (which also staffs the camp) and when I mentioned that I was thinking of sending him for a couple week-long sessions she asked, "ARE YOU CRAZY?" She then proceeded to remind me of all the half-assed supervision we have witnessed: her daughter repeatedly running across the balance beam and falling each time while the teacher sat in the corner until the girl eventually split her lip; the art class in which the instructor was on her cell phone and the kid poured an entire bottle of tempura paint over his head; the sports class where the more agressive kids would take turn after turn while the younger/more timid children waited for a ball that they never got; the scary swimming class in which twins lost their grip on the edge and dragged each other underwater for one terrifying minute while their mother raced for the pool area and all the other parents pounded and kicked on the glass wall trying to get the attention of the instructor or a lifeguard or SOMEBODY (I just got choked up writing that. it was terrible.)
It was sort of nice to have somebody from my very specific reference point confirm that my fears concerning this camp are not entirely irrational. And caveat caveat I am not saying that ALL Y programs or camps are dangerous open mine shafts etc, just that SOME of the people running A FEW of the programs at THIS SPECIFIC facility have indicated a laissez-faire attitude toward their charges that does not settle well with me as I contemplate extending the times involved from 40 minutes to 6 hours and I will no longer be sitting right there.
You know what? I think I will cancel it. Whether he has the time of his little life or not I am clearly going to be a basket-case. I'll throw in a few extra weeks of Montessori (if he likes it) and we can do the Y camp next year after he has kindergarten (this school starts all kindergartners at half-day and then transitions them individually to full-day as the year progresses, which I think is awesome) under his small belt. Good. I feel better.
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I am writing this over the course of two days, can you tell?
Ultrasound tomorrow at 10:30. I am not sure what I am expecting. I admit that I was not surprised to see everything looking ok so far, since good initial levels have usually given us expected growth in the beginning. I will be 8w2d tomorrow, though, and I guess I am prepared for anything. I have been spotting (brown) off and on for the entire week and while I still don't feel like it means anything I guess it might.
I'll post after the ultrasound at REDBOOK.