48 Hours And 400000 Years Later

Thank you very very much for the sympathy and helpful suggestions. I have a big ol' post up at REDBOOK that explains (I think - I am actually not sure what I wrote, I just kept typing) this in greater detail but the short version is that I have an appointment with a perinatologist at Mayo Clinic on Monday. The plan is to have him take a look and then do CVS, if warranted. My only remaining worry with all this is that my appointment starts at 7:30 am, we couldn't find a babysitter for Patrick overnight (that I approved, which means my mom or brother could not come) so unless I can arrange some sort of temporary drop-in care for him in Rochester Steve and Patrick will be at the hotel pool while I see the doctor. It seems a little sad to go alone, though. Sort of weird and a little pathetic. Hey, maybe I'll bring a sock puppet!   

I keep looking at these ultrasound pictures of B, trying to put them at an angle where it doesn't look so very BULGY back there. Steve and I brought out the two other images we have from abnormal pregnancies 11 and 12 to do a comparison and our conclusion is that the nuchal on 13b over here is less than half the size of 11 (which was absolutely massive, the fetus looked like it was reclining on a beanbag chair) and somewhat smaller than 12. Due to the wild variations in the size and scope of the pictures this is about as scientific an approach to interpreting this as taking the fact that yellow jackets have just built a nest in the lintel of our front door as a sign about the pregnancy from the bee gods. I don't know. Maybe it will be ok. I honestly tried to believe a few impossible things before breakfast this morning but first I threw up and then I had to take Patrick to Montessori camp and by the time I got home my willingness to see a genetic soft marker as anything other than a goddamned genetic billboard of doom had evaporated.

But let's talk about mosaicism. Mosaicism is when there are both normal and abnormal cells present in an embryo and it is, I guarantee, what the nice PGD guy will say happened if it turns out that we have another unbalanced translocation in the works. You can see how it occurs, of course. Say you start with a normal egg and a normal sperm and they create a normal cell together. That normal cell divides to create new normal cells. But somewhere early on in the process one of the normal cells becomes abnormal, losing part of a chromosome or picking up an extra one. That abnormal cell might divide as well, such that you now have normal and abnormal cells both adding their little all to the embryo. When PGD is done they take a cell or two and test that. If the one they take is normal but the majority of the remaining cells is abnormal the PGD results will be misleading. OK? OK.

This becomes a little harder to imagine when you are talking about reproduction involving carriers of a specific genetic condition. In order for that genetic condition to get passed on you need to have the original sperm carry it, yes? Well, this is where the nice email from the nice woman came in so very useful.

She wrote:

"But it is also possible that (for example) the translocation quadrivalent segregated 3:1 in meiosis and that the fertilizing sperm carried two normal chromosomes and one translocated one. The translocated chromosome could have then nondisjoined again during one of the earliest embryonic mitotic divisions, so that the embryo was a mosaic, and the cell that was selected for PGD happened to be one that had two normal chromosomes and had lost the abnormal one. but the abnormal one was still there in other cells."      

Which I found as satisfying as a chocolate chip cookie because it offered a logical explanation for something I had previously found completely illogical. Also, the situation she describes would be rare, so the odds of our getting another unbalanced but mosaic embryo would be rare. So when the lab said "these two are not unbalanced" this time I could believe them.

There are so many different possibilities over here that a less dedicated person than I would probably not even bother to worry about them all and would just breathe deeply and steadily until Monday, possibly taking up painting or the flute in the interval. But I am nothing if not devoted to my ability to catastrophize so this is what I have come up with:

1. the nuchal is not actually abnormally large. we saw a bad/twisted/distorted view for some reason

2. although it is increased it does not mean anything. 90% of fetuses with nuchal translucencies between 2-3mm (to take a random guess at what we saw) are fine.

3. the fetus has Down's

4. the fetus has trisomy 18

5. the fetus has trisomy 13

6. the fetus has some other random genetic disorder

7. the fetus has a normal karyotype but suffers from a congenital heart defect 

8. the fetus carries an unbalanced version of Steve's translocation

Any other possibilities that you can think of? Well, eight is probably enough to keep me busy until Monday.

I realize that I seem to be ignoring the other twin in this. And actually I am, a bit. Some part of my mind is aware that we have a very good chance of bringing that baby home and I am thrilled about it. But it is too schizophrenic to feel unreserved happiness when I am worried that the other bobbing and weaving lump is about to die. Does that make sense? I cannot seem to compartmentalize my anxiety about 13b and what is going to happen just yet. I will, I know. I have been at this too long to dwell on disappointment at the expense of wallowing in happiness. But I'm just not there yet.

Remind me to talk about Patrick's birthday and Montessori camp. Both went/are going well.

Comments

[SheilaC]

Oh, I'm so glad that you have found such a good clinic to take care of you, and quickly too. It's so helpful to have a good plan. And I'm hoping along with you for the best possible results on Monday. Keeping all of you in my prayers,

[Rachel]

I'm so glad they got you in at Mayo. It's my medical place of choice. I actually just got out of the hospital yesterday for an ovarian cyst. Those people are amazing...a consult with the surgeon last week and a week later I'm done with surgery and already out of the hospital.

I will be thinking of you and hoping that everything goes as well as possible and that Steve is able to be there with you...it's important to have at least two sets of ears for news like this.

[Sally]

I'm still amazed that you bother to think of us in these times. Like, IN them. Right in the middle of all the turmoil of them.
I'd feel compelled (on my way back and forth from the kitchen because in stress, I eat like Takeru Kobayashi) to throw up my hands at the computer like I was blocking paparazzi flashbulbs.
Thanks, is what I'm saying, for keeping us close.

May the weekend fly for you.

[Jodi]

I *can* add to your list that the foetus may have Turner's, ie XO. If it makes it, that's not a bad one to have. But I don't really think I should be offering up more worring suggestions for you to fret about.

I think you've covered most of the rest that would cause early hydrops or lymphatic dysfunction.

I do really hope that the fetbryo is fine and you go on to have double trouble (ie twinsies!) in two trimester's time.

[Hetty_Fauxvert]

I don't think I can add much to the other comments except to say that I am really, really, really hoping that all turns out well. Also, thought I would pass along this page on CVS which I found very informative during my pregnancy: http://patients.uptodate.com/topic.asp?file=pregnan/7849

It says, among other things, that transabdominal CVS is slightly safer than transcervical CVS, in terms of avoiding miscarriage. Might want to ask your peri about this.

Possible stupid question from a newbie to your blog:

If your husband has this same issue how is he even alive? Why wasn't he miscarried like all of your babies?

[Nony Mouse]

Thank-you for explaining how the PGD testing can still result in an embryo with a translocation. I've been curious about the terrible outcomes you've experienced even with PGD, and now I understand its limitations better. I'm still praying for the best for you and Steve.

[sheilah]

Glad you thought of Mayo. I would have suggested it but figured since you lived mere hours away that you would remember that a large well-known, well-respected, very, very good hospital was so close to you.

Should have remembered that between the hormones, worry, etc. you weren't exactly thinking at your best.

If you were coming to the Mayo Clinic here in my town I would watch Patrick for you. He is just 6 months older than my boy. But again, there is that stranger/stalker from the internets thing. Probably not...

[kara]

I am deeply sorry about the frustration and agony involved with trying to set up an appointment on such short notice -- and I am so relieved that Mayo came through and that you are in great hands.

I will be thinking about you Monday and hoping for wonderful news. May the statistics be with you in the very best possible way. The universe owes you at least two.

[Emily]

I'm sorry this still isn't easy for you after so much.

Thank you for explaining how after doing PGD you could still have a chromosomal issue. It's all so complicated and it's so much information it's enough to make you go insane.

Thinking of you.

[marion]

For the newbie who posted at 10:13 am, click on my name to go to the Wikipedia page about balanced translocations, which is what Julia's husband Steve has. Short answer, as per Wikipedia: "...a chromosome translocation is a chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes....translocations can be balanced (in an even exchange of material with no genetic information extra or missing, and ideally full functionality) or unbalanced (where the exchange of chromosome material is unequal resulting in extra or missing genes)." People with balanced translocations have all the genes they need in a functional arrangement, but they tend to have a risk of producing gametes that have unbalanced translocations and thus unbalanced chromosomes. Long answer...well, check out Wikipedia and other Googleable sources. Enjoy!

[Laura K.]

Okay, you really need to make being a geneticist your next big career move - you know WAY more than m\ost of the people I ever talked to.

I'm fervently hoping/praying for possibilities number 1 and/or 2. Good luck on Monday.

As for sitters, does the Mayo have a child care setup of some sort? It seems like you would not be the only people to go there and have to bring a little person with you. I wonder if there is some sort of child care center on site?

[Audrey]

Here's hoping for the best possible outcome!

[Val]

Best wishes, Julia. I'll be thinking of you and your family Monday.

[throwingutah]

I don't even pray, and I want to pray for you anyway. I'm glad you'll probably have some answers on Monday.

[Professordog]

Sounds like you've had an absolutely wretched few days. I hope things go as well as can reasonably be expected on Monday. And I'm looking forward to more Patrick stories, when you feel up to it.

Really hoping for the best for you.

I vote for bad angle of u/s pic. That's what I have decided.

[Jb]

prayers, support, hugs and a large chocolate bar for you as you enter this next phase. 13a and 13b in my thoughts.

[Rebekah]

Hoping for the best possible outcome for you.