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

[Nate]

Thanks for the update--I've been thinking about you this week and hoping you were getting some answers (or at least an appt.) I'll be sending happy vibes down I-90 to you on Monday. Go lefty!

BTW, we spent a night in Rochester several years ago and ate at a Mexican place that was (I believe) on US 12. Or 14. One of them. In any case, don't go there. Ugh.

[becky]

Bullshit, other women would take up the flute! I would be camped out at someone's office alternately hyperventilating and crying. You are remarkably calm. Please continue to keep us updated and you will all be in my thoughts.

[justdawn]

I am still holding out hope that this will be your lucky #13:)

[Menita]

Or the cello. You could try that. I have nothing else to say other than I'm abiding with you, out here.

[Cris]

I am pretty sure you will soon be the subject of a joint research paper between a geneticist ("How Impossible Things Keep Happening") and a psychologist ("Grace Under Pressure: How One Woman Stayed Sane When Impossible Things Kept Happening To Her").

Thank you for keeping us updated at such a stressful time.

Anything else I think of to say that in anyway relates what we went through with what you are going through keeps coming out less than helpful. Just know that our family is pulling for ALL of yours.

[Erin]

I'm glad you're coming down here to Rochester. I thought of offering to watch Patrick for you, but there's no way I'd let some random stranger from the internets watch my child, so I won't offer. But, if you think you're going to need anything else while you're down here, let me know.

Hang in there... I know from experience it's going to be a hellish weekend, but some how, some way you all will get through it. Even if its just one minute at a time.

Erin.

[Caris]

It must be good to know you'll be in such capable hands Monday - my Lilac Fairy wish for you now is that you'll find out that 13b is one of the 90% which are perfectly fine.

Now you just have to make it until Monday - does it help to picture Doris Day at the piano singing 'Que Sera Sera'? I can almost guarantee it will get stuck in your head and drown out the constant worrying, at least for a few minutes... it works for me mostly because I'm not actually zen enough to just accept the inevitabilty of things, but it sort of reminds me that I'd like to be.

100% best wishes for the 90% answer (and for everything else, too.)

[liz s]

I would watch Patrick in a heartbeat but I am way too far in the opposite direction.

Sending all good thoughts your way.

[JuliaKB]

I am glad they were so accommodating. Sorry Steve might not get to go with you, but perhaps someone at the Montessori Patrick goes now can recommend a place in Rochester he can slam in for half a day?

Your reaction re: 13a is more than understandable. You are facing the possibility of loosing 13b, and there is nothing that makes that better. You are not forgetting 13a, you are focusing on the one that seems to be in trouble. And it stinks that you have to. It just does.

Keeping everything crossed.

Happy belated to Patrick. 5 is a big deal.

[Vanessa]

We don't have your history of translocation, but we went through something similar recently-our NT showed one of our twins had the Queen Mother of nuchal folds, while the other one was dwelling in the Land of the Good Odds. We had another NT scan done, which really only made matters worse in terms of the scare tactic. We too had a scary CVS and lots of tears, and in the end it turned out ok. I'm not saying it's all going to be ok, I thin k we're all realists here (although I certainly am hopeful for you, honestly.) All I'm trying to say is that if/when the time comes, you can do the same thing I am planning on-deleting these blog posts so that the non-worry twin doesn't feel like there's something they gotta' make up for in that "why didn't I get to be worried about, too?" kind of way.

And in the meantime, I continue to hope for you.

[Beth]

Quote: "But I am nothing if not devoted to my ability to catastrophize ..." /Quote

Oh, yes, me too, so very much so. I am keeping you in my thoughts and prayers that all will be well. I am so sorry that you are going through this -- life just f'ing sucks sometimes. Take care.

[Leggy]

Our circumstances were not as severe, but we went through a similar thing a few months ago re: should we do an amnio because Baby B had a choriod plexus cyst (which can be a marker of trisomy 18). So I hear you on the worry over Baby B while being, at the same time, thankful that Baby A looks fine.
I'm glad Mayo was so accommodating. And I really hope that fluid on the neck was just a shadow or some other thing that is not indicative of anything serious.
I'm just really hoping you catch a break, because damn girl, you've been through enough.

[Sprengblingbling]

All right, good. You have the appointment and that is half the battle.

And if I lived anywhere near there I would offer to come and play with Patrick. I feel bad that Steve can't be there with you.

I know it's weird, but perhaps if you explained your situation to the nurse at the clinic, they might have someone who could keep an eye on him with some coloring books and letter stencils and math problems in an empty exam room? Just thinking out loud.

[Drowned Girl]

I am hoping for you. You deserve a happy ending to this one, you really do!

[Anna]

I'm so sorry you're going through this, Julia. Is it at all possible for this to be a cyst that could resolve later? I know someone who went through IVF & carried a singleton which showed a large cyst on the nuchal fold early on. It reabsorbed and the baby, now a 3 year old girl, is just fine. I'm really praying it's something like that (if anything at all). You really do need a break. I've got everything crossed for you.

[Slim]

Could the Mayo Clinic concierge services hook you up with a nanny/babysitter/daycare center for the duration of your appointment?

[Angela]

Thank you so much for both updates. I've been franticly refreshing to see what had transpired. I'm keeping my fingers, toes and all other possible apendages crossed for scenario 1-the one that ends up with you taking home two perfectly healthy babies. I'm hanging on to that until we hear otherwise. I'll be thinking of you all weekend and Monday. Take care.

[Pidgie]

I am constantly amazed at your ability to keep a positive attitude. You are one tough lady, and hopefully you are passing this quality to both fetus, and on Monday you will find them both strong and healthy. I will be thinking of you and sending good thoughts your way!

[JB]

Mayo is amazing -- accomodating and kind and also an excellent medical facility (a nice plus). I did my IVF at MAYO, even though I had to drive there from way down here in central Wisconsin. I am soooo glad I did (ladybug onesie). And I'm soooo glad you're going there. Good luck.

[kristine]

I'll be thinking of you this weekend. I recall how utterly impossible it is to think of anything else and the time just crawls by... Damn. This isn't turning out encouraging at all.

[Ersza]

Can you help with background? How many PGD pregnancies have you had, and how many of the PGD screened embryos resulted in confirmed chromosomal abnormalities? (I know they all miscarried, and I'm sorry. I am praying that both of your twins will make it.)

I am so sorry you are going through such a hard time. This is one of those cases where control consistently eludes our grasp, no matter how desperately we need it, or to what extreme measures we got to obtain it.

[Julie M]

I read you news here and at REDBOOK and wanted to extend my sympathies to you for this damned "glitch" causing so much uncertainty. I am not sure if you remember, but I had a thickened nuchal fold/full T-21 pregnancy completely unrelated to my translocation in 2004. We were blindsided because, as you said, the risks of the bt so outweigh anything else, it seemed incomprehensible to us that this would be a concern. I have since heard, anecdontally, that bt carriers have higher risks of other chromosomal abnormalities, but I never ran across a study supporting this. I hope it was just a misleading scan for you and that your trip to Mayo will provide better news. I suggest that you have them do 24 hour FISH so you can rule out T-21 (and T-13, 18 and Turner's) as soon as you can.

[silene]

I'm glad you are a woman with a plan. I will be thinking of you and sending subtle thought messages to keep your breathing steady. Personally I think you should take up knitting - extremely restorative, plus you have something to show for your time at the end (for the compulsively productive among us...)

[Lydia]

I am the wife of someone with a translocation. I recently had a healthy baby from an ART pregnancy that was initially a twin pregnancy. I'm with you, and I understand what you're going through. Your blog has brought back a rush of emotions for me.

I'm really hoping you get some answers, and the rest of your pregnancy can be boring.

One issue I've read about is "ICE" a.k.a. Inter Chromosomal Effect. In other words, my husband's translocation is 13, 14. But sometimes 18 and 21 are affected when 13 & 14 are involved in the BT. I know PGD can't look at every chromosome.

----------------

I'm so glad you have an appointment Monday. Yaaaaay!!!

[Sophie]

It's all been said, but I just have to add my own heartfelt hopes that everything works out.
Thousands and thousands of us are rooting for you out in cyberspace.

[Pam L]

Again with the sock puppets? Would love to hear about the birthday. We are past doing "parties" now, at least the kind where I have to pay for 10 or so young boys' entertainment for and afternoon. And we tried them all, at first ,the not so cheap and very messy because you're compensating, home party, then when they were little enough and happy just to be there, McDonalds, also, Chuck E Cheese, putt-putt golf, Boondocks, one of those indoor/outdoor amusement places where all the kids really want is more tokens to win more tickets to get more junky toys, one disasterous rec center pool party where one boy split his foot open and ended up in the hospital on IV anitbiotics and lately 2 other kids go to the movies with the birthday boy and I buy the popcorn.

[littlea]

Well certainly the best part is that you've got an appointment for Monday and at least know when exactly the next step is; I am so much like you in the needing to know what's next category. I hope that you don't ever need to go beyond your 8 possibilities and in fact that everything just stops at option 1 (or 2 in a worst case)...scenarios where both 13a and 13b make it and are just fine. Even my DH who has the b/t and hates that I am constantly giving him updates on "Julia? The blogger? You know, whose husband has it too?" was crushed when I updated him on Tuesday. Hopefully child care will work out in Rochester b/c I'd love Steve to be there with you when you're told that it was option 1 after all....nothing distended about the nuchal fold at all..........As a side note, since wine is out of the question to get you thru the next couple of days, unisom (not the gel tab ones, the little blue pills) is okay in pregnancy for severe nausea and has the not unpleasant side effect of knocking you out. If I were you I'd want to spend most of the next 3 days unconscious. And I probably would.

[kay]

I wish I still worked for IBM. Then, I could schedule a business trip for the Rochester facility, and then call in sick on Monday to watch Patrick. We always stayed at the Holiday Inn which is just one sky tunnel walk away from Mayo.

Good luck!

[Jessica]

Sending good thoughts to you this weekend and for Monday. (we had a trisomy 18 singleton pregnancy.) May all this stress soon be a forgotten blip on your path to being a mom to healthy twins.

[terri c]

Glad you have appointment. Sending you every warm wish I have. Don't suppose Patrick would be OK in the waiting room with a calculus book or something? I so wish Steve could be with you at this time, and also I totally understand re: watching Patrick. You'll do the right thing because you always do.

[SarcastiCarrie]

Do let us know what to expect next. We're right there with you needing a plan to go on. It's all about us here (oh, and you and Steve and Patrick and A&B). On Monday, we must know whether you decided to do CVS after the big ultrasound (I assume as long as they are peeking around, they'll be looking at both fetrbryos not just Lefty). If yes, was it performed on both A & B? Were the samples large enough to do FSH and a karyotype? How long will we have to wait for results and are they definitive (unlike, say, PGD)?

Personally, I think you should come up with 13 things that it could be. Sort of the lucky 13 thing. Here's my #9: Doreen forgot to put on her glasses, and it's all a big misunderstanding. #10: It only looks big in comparison. A is the thinner sister.

[Yatima]

...oh and I meant to say last time: wanting siblings for a kickass-awesome kid like Patrick? Opposite of insane.

[Paula]

I think I speak for more than myself when I say where the 'less dedicated' person can stick her flute.

Best wishes for the best possible outcome, sweet thing.

[sozzled]

Just a thought but is there a babysitter you would be willing to take with you to Rochester so you can be with him overnight and the sitter canplay in the pool with him while Steve goes with you?

[Jenn]

I love the Mayo CLinic. After years of bad drs. experiences and misdiagnosis my mom was sent there (obviously not the fertility arm). But the people, the feel, the professionalism and the knowledge just exudes from the place. I think it's a good place for you to be.

Hoping for some good news, to say the least.

[Jill]

Wishing good things for you.

[Steph]

I'm hoping for the best and some good news. I think your worries about twin B are normal. When I was pregnant with twins after 3 years of infertility, my husband and I were told that we had lost twin A (her gestational sac split and the tech looked at the empty part of her sac) only to find out a week later that she was still alive. I spent the entire week grieving, while my husband was focused on being happy that we still had one baby. After the ultrasound that revealed they were both okay, my husband said he realized how sad he was about the thought of losing one of the babies. It's normal to be more focused on your fear for baby B right now, and it doesn't mean you value baby A any less. I will keep hoping both babies are fine.

[Susan]

Waving.

Nothing to say, get through the weekend somehow. Use a hotel babysitter if you have to - I've done it twice, and the kids have been fine.

[wavybrains]

Thinking of you. I don't comment that often, but I've read you for several years now. I was scheduled for tests at Mayo several years ago, and they have MANY services for families. You are not the only family to travel with a small child. Contact the clinic's concierge service (FREE) and ask them about drop-in childcare options on/near the campus--I'm sure they will have ideas for you. http://www.mayoclinic.org/becomingpat-rst/patientareas.html
GOOD LUCK!

[Alison]

Thankyou for mentioning both righty and lefty, I was wondering what the story was with his/her skinny-necked sibling and hoping that it was good news. I'll be keeping my fingers crossed for all of you!

[kathleen999]

There must be a babysitting service that Mayo clinic can refer you to. Probably someone who could come with you to the doctor's office and just keep an eye on Patrick while you and Steve go in would work. Just an idea.

Anyway, wishing you the best. I keep thinking, "That LL (Lucky Lefty) is such a trickster already! Trying to get all the attention away from his twin before they are even born." I can just see him chuckling to himself...

I hope I'm right. Good luck.

[Luna]

The fact that you CAN ignore Righty/Twin A is a good thing, I think. It means that he/she is doing just fine on their own, which is really wonderful.

Best of luck on Monday

[bethany1023]

Hang in there. Have been to Rochester many, many times - it's a nice community. If you get the chance, Hubble house (sp?) has EXCELLENT food.

[MollieBee]

thinking of you

[winecat]

Thinking of you, Steve, Patrick, 13a & 13b. It's wonderful that you got into Mayo on Monday!
If it was me I'd just sleep through the weekend.
I hope Steve is able to be there with you for testing.
And I'm still keeping all fingers and toes crossed for good luck.

[Emmie (Better Make It A Double)]

I think #9 is:
It's Dick Cheney's fault.
That always makes us feel better around here, anyway. I hope you get some answers soon, and that you get kind and compassionate care at Mayo.

[Cathy]

Thanks for clarifying what the geneticist said. I think during meiosis all 4 of each kind of chromosome join together in a bunch, so that crossing over can occur. This is before the cell divides and all four chromosomes end up in 4 different sperm. So what happens to the translocation chromosomes which are part one chromosome and part another? I would guess that they are stretched/shared between two different clumps and the process of attaching the spindles and pulling them apart during division may not go so well, because things are not where they are supposed to be. The chromsomes may not end up in the right cells. Sperm analysis should indicate that this is going on.

Throwing out the extra chromosome later on in the embryo may not be that unusual either, particularly when you consider that the cell is designed to count and segregate 24 chromosome pairs, not 25, during division. The extra pair could passively end up in one cell if no spindle happened to attach to it during a division. I don't know, but it seems like these usually rare events may be more common if there is an abnormal chromsome present.

I hope everything goes as well as it can on Monday.

[Minnesota Momma]

I'll be thinking of you and sending positive thoughts your way on Monday. Wave to me as you drive by. I live about 40 miles outside of Rochester. You'll literally be within a mile of my home.

Mayo is awesome! I had to have some tests done earlier this year and was trying to find a new doctor. I kept looking around and then thought to myself, why the heck don't I just go to Mayo? People come here from all over the world and it's right in my backyard! So, I did and it was a great experience all around.

[Chickenpig]

Did they just look at the nuchal folds? Or did they do a level II ultrasound where they looked at the heart, brain, and etc? They'll check all that stuff out at Mayo, in any case. I've still got my fingers and everything crossed for you in hope that one soft marker does not a defect make.

[Kelly]

Thank you for the update. I'm going to hope for the best for you and Steve and B. It's not at all odd to not be all giddy about A right now. Right now, A can take care of him/herself. B needs your attention more. That is very much normal and very much ok for a Mother of multiples.