Title

Did we have any theories as to whether my head would go with a bang or with a whimper?

It was a whimper.

Briefly (because I honestly cannot stand to sit here within a fingernail of google for one more second):

the genetics counselor called to say that the lab has requested additional information. They need to know where the breakpoints are for Steve's translocation. I said that doesn't sound good. She said she had thought that, too, but the lab said not to read into it. I called her back with the breakpoints and she said she did not know when she would hear anything (today? tomorrow?) but that she would call when she did.

I waited as long as I could reasonably expect even the most dedicated of perinatology staffers to still be at work on a lovely summer's evening before posting this, but they are not calling again today. 

Not sure what this means. I have some guesses. Some are really really awful. Some are minorly worrisome. None are of a sort to have me breaking out the fireworks (which I am actually afraid of anyway) just now. I am trying to believe that they have not even looked at the samples yet but... meh.

Comments

[Mellie]

Don't know what any of this means except that I hope you managed to get some sleep and that it wasn't sleep induced by over-googling (athough that is better than nothing.) Fingers crossed that they have good news to you soon.

[Anna]

I'm crossing everything possible as well. Sending lots and lots of good thoughts your way.

[Susan]

Merciful freaking heavens.

I'm with Stacey. Or Casey.

You know, I read suspense novels, but I often peek in the back to see who's left standing at the end.

WOW do I wish you could take a peek at December right about now!

[Jennifer]

The lab knows the embryos were already tested pre-transfer, so they want to know EXACTLY what they are looking for, both so that they don't screw it up AND so that they can give you answers you can rely on. Both the fetbryos were looking lovely the other day, and they were right at 12 weeks, correct? Doesn't that put them both in the upper tier? and wasn't 13b's nt within normal limits?

Isn't it also possible that they have already looked at the samples, found everything looking just fine - and are asking for clarification of the concern BECAUSE they know the embryos were already tested pre-transfer and BECAUSE they want to know what the heck they are supposed to be looking for?

Asking for clarification seems like precisely what a responsible lab would do in this situation.

People all over the world are praying for you, crossing fingers and toes and everything else. And whatever those results are, all those people will be here to offer support and encouragement.

The waiting sucks, yes, but hang in there - you still have EVERY reason to hope.

[Kat (Maternity Genes)]

Hi Julia,
Our 2nd baby has my balanced translocation and when we first got that news they then took a few extra weeks to rule out UPD. Is that a possibility here? I mean, is there a chance that one of the babes could have the balanced translocation? (Sorry, I haven't followed every detail of the transfer.)

I'm hoping you'll be hearing good news soon.

Thinking of you... longtime reader and BTer, Kat

[Erica77777]

Crossing fingers and hoping so damn hard.

[Flippy]

Damn, all I've got to say is that they'd better be calling you bright and early in the morning, telling you that the kids are fine. This waiting stuff isn't at all fun.

[Tonya]

I think Bob Dylan *almost* got it right... "waiting is the hardest part." I am sending every positive vibe I have, and hoping you get the best news possible. Very, very soon!

[Jenn]

I am choosing to believe that they asked because everything looks normal but they want to check the exact locations "just in case".

Failing that, fetbryo 13b has the balanced translocation.

I refuse to believe anything else

Ommmmmm

[alchemilla]

Oh angel, what ghastly and exquisitely cruel suspense for you. The phone call can't come soon enough. I too am praying for the best possible outcome.

[Chickenpig]

Crap! Please please let them just be doing there job very thoroughly and well and crossing all their T's before calling you with a definite answer of "everything is fine".

[txmama]

Sounds to me like they are trying to get it exactly right, in the most professional way. Which of course does not help you a bit in your suspense. I'm so, so sorry you're having to wait longer and am thinking about you today!

[wealhtheow]

Oh Julia! I hope this turns out to be nothing. We're all waiting with you in the computer.

[Nancy]

Wow, I even feel less anxious about the 13s after reading all these knowledgable comments! Braintrust indeed.

Well lady, I know nothing about the science, but I'm so hoping for the full positive report soon. I want you to have the fireworks (maybe just a sparkler), the entire first season of "Prime Suspect" on Netflix, and a cool next six month stretch of pregnancy. Mainly peace of mind, though. CALL her people, call her.

[liz s]

I have to agree that if there was a BT then it would have been apparent in the beginning.

I just wish I could make the time fly for you. Sitting around willing the phone to ring is agony. Similar to sitting in the waiting room waiting for U/S while bleeding heavily;knowing this can't be good but holding onto a little bit of hope. All the while some teenager is showing U/S pictures to everyone of her 3rd baby! Its just plain hell!

All my thoughts are with you!

[Pat]

13B! 13B! 13B! 13B!
C'mon baby, be healthy.

Thinking of you today Julia.

[Dara]

Damn, that sucks! Why didn't they get that info before?!!! I'm with Kathleen999 and Stacey. The lab is just being extra cautious.

Good and positive vibes soaring through the universe for you, thirteen a&b, Steve, and Patrick!!!!!

[maggie]

Thinking good thoughts and keeping everything crossed for you.

[Barbara]

Ditto on the crossing of all possible anatomical parts! After having read all the previous comments, it does seem to me that the lab just wants to be 100% sure that they scrutinize the chromosomes involved in Steve's translocation at the critical points, so that the answer they give you is as accurate as they can make it. I just hope the answer comes soon, and is very, very good news. Love to you, Steve, Patrick, and 13a and 13b.

[cursingmama]

I've nothing in the way of advice or counsel - I can only offer good wishes and the open invitation for coffee or whatever you'd like to do to distract or vent.

[colicmommy]

Hey Julia,

I'm a biologist. Here's my bet: 13a is normal. 13b is balanced.

If you have an unbalanced 1;4 translocation, it's obvious on FISH. You'll get a normal looking chromo. 1, and then a funky hybrid 4;1. Or you'll get a funky looking 1;4 and a normal looking 4. Either way, FISH is based on glowing probes of different colors. You'll see the colors get all wonky.

If the translocation is balanced, they are going to be much more careful, because it'll be much less obvious. You'll get mostly normal 1 and mostly normal 4, but with tiny little glowing parts that look like they are the wrong colors. They'll want to make sure the breakpoints actually line up, too. They'll try to make sure there's not just a teeny bit missing, lost, somewhere. Before they tell you that your baby appears to be "balanced" they'll want to actually make damn sure that's as true as they can tell.

As Steve says, though, better to be alive and like Steve then not exist. Hey, I have a funky genetic eye condition. I'd rather be alive than not exist, too.

Everything crossed that this is what it is!

[MJ]

Okay, I'm going with positive. The lab needs this information just to check the breakpoints. It's the Mayo Clinic. They're being thorough. That's it.

[Rella]

I had at least 5 identical dreams last night about peeing on a stick and it coming up positive, and after each one I was convinced it was true. I had one dream about you getting your results and everything was fine. I was equally convinced that it was true. You just don't know it yet.

[Catherine]

I think some lab guy needs to write a journal article and your samples looked like a great starting point but he needed more information. YAY! You'll be a textbook study one day.

Everything crossed here too!

[Genevieve]

Thinking hopeful and good thoughts for 13a and 13b and you.

Liking your biology brain trust up above, and everything they say sounds reasonable.

Using mental telepathy to make the furshlugginer phone ring SOON.

[Mella]

This sucks. Waiting--ugh! And I'm not the one glued to the clock. But I am glued here for your news. As always, sending best vibes across Atlantic.

[silene]

I wish I understood more about the science of all this (I, too, went to law school for a reason), but the science brain trust comments above seem eminently reasonable to me, and I have faith that the 13's are in fine fettle. Fingers crossed that your good news arrives VERY SOON!

[Sarah]

*on pins and needles*

Have been reading you since before my son was conceived. I absolutely have faith and a GUT FEELING that you're going to be bringing home TWO babies, and later in life you can hold all of this worry and panic and distress over their teenage heads as you give them guilt trips for messy rooms and crazy report cards.

COME ON MAYO!!!

[Libby]

Oh for the love of Pete! This waiting is killing me. I can't comprehend how you are even functioning at this point.

I am thinking about you and fervently hoping all is well with both babes.

[Liza]

Oh for f*ck's sake--could they possibly be any more aggravating??? What kind of arseholes call the pregnant woman and ask a question like that and do not get back to her the very same day? And how did they not ask that before? I am betting on colicmommy's guess, that 13a is normal and 13b is balanced...even to a non-biologist "medical enthusiast" such as myself it would seem that a definite bad result would be immediately obvious. I don't think they are handling this very well, though--I would say that you should send a strongly-worded letter to that effect to Mayo but I know what it's like to be swamped with constant medical crap...you kind of lose that indignant outrage after a while and start saving your energy for the big stuff. Sorry they're being so vague. I'll be refreshing all day long now...

[littlea]

On pins & needles with you, hoping and praying. Sounds like there are some really rational & positive explanations for why they'd need the breakpoint info - namely, if one of the fetii is a carrier. I'm so sorry you're having to live thru this kind of agonizing wait, though. And just a little response to the Redbook post - PGD can't tell us whether our embryos are normal or balanaced either. I don't think it's just Steve's translocation - I think that's the way it is with all of them. Everything crossed for you...

[victoria]

Jesus. What a mind fuck.

[Alison S]

I've got a degree in anthropology with human genetics, and my bet is a is normal, b is balanced, too. While I desperately feel for you during this dreadful wait, I don't think those commentators who are berating the lab are being fair. They ask for extra information when they realise they need it, and presumably they will give you the answer as soon as they can, bearing in mind that presumably every sample they look at has a human story of emotion and hope behind it, because otherwise they wouldn't be testing at all, and that I imagine they have lots of samples to test.
I have a friend with a balanced translocation with two daughters with balanced translocations. She's sorry they'll probably have to go through the miscarriages that she did, but otherwise they are 100% wonderful daughters, and she wouldn't alter a nucleotide on their chromosomes for the world.

[Alison S]

I've got a degree in anthropology with human genetics, and my bet is a is normal, b is balanced, too. While I desperately feel for you during this dreadful wait, I don't think those commentators who are berating the lab are being fair. They ask for extra information when they realise they need it, and presumably they will give you the answer as soon as they can, bearing in mind that presumably every sample they look at has a human story of emotion and hope behind it, because otherwise they wouldn't be testing at all, and that I imagine they have lots of samples to test.
I have a friend with a balanced translocation with two daughters with balanced translocations. She's sorry they'll probably have to go through the miscarriages that she did, but otherwise they are 100% wonderful daughters, and she wouldn't alter a nucleotide on their chromosomes for the world.

[Barbara]

First, you read my mind! Thank you so much for the explanation at REDBOOK on balanced, breakpoints, etc. I wanted to ask, but you answered before I had a chance! Second, I will not be posting on REDBOOK because the registration page asks for personal information but is not encrypted!! Third, we are all very hopeful for you and your babies :) - B

[mellie]

Thanks for the balanced breakpoint information. Still keeping fingers crossed. (Wouldn't it be nice if the world were that simple? "Clap if you believe in fairies!" Much clapping insues.)

[Lauren]

Hoping very hard for you. Very, very hard.

[Katie]

It sounds to me like at first check both seemed to be just fine, so they are checking further to make sure that when they call you with wonderful news, they will be able to answer you questions completley! Heart pounding for you, eyes tearing in anticipaiton for you, praying that both A & B will be coming home in two adorable hats in a few short months.

[SprengBlingBling]

I know nothing about genetics -- can't even remember the Ts and Gs and whatnot of DNA. But reading others' comments I would have to say sounds like A is good to go and B is balanced. But man, they are such asshats to ask you for info and then leave you hanging. They could have at least said "We need this info. We will get back to you tomorrow."

I can only imagine how stressful this must be for you. I check a million times a day for updates.

[Lydia]

Maybe they're checking for microdeletions, in other words, being very thorough. Which would be par for the course for Mayo. It really makes sense.

My husband has a BT, and has no microdeletions -- they are clean breaks.

[Amy]

This may have come up before, and may even be a dumb question, but... If your current and past fetii have inherited Steve's translocation, why is it so challenging for them to become babies? I mean STEVE became a healthy baby and adult with his genetics; can't these twins?

I am very optimistic for you. And anxious to hear the results!

[Julia]

Amy, Julie over at alittlepregnant just posted a link to a past post of Julia's that explains it very well, with pictures. http://julia.typepad.com/julia/2005/05/balanced_transl.html

[Becky]

I got out of genetics a while back, but I'm generally with the people hedging their bets for the BT baby. An unbalanced translocation should have jumped out right away. It sounds like they're being extra careful, knowing your history and all.

[Becky]

I got out of genetics a while back, but I'm generally with the people hedging their bets for the BT baby. An unbalanced translocation should have jumped out right away. It sounds like they're being extra careful, knowing your history and all.

[Susan aka Accidental Poet]

*screams* MICRODELETIONS? There's potential for more hell??
*sticks fingers in her ears and runs away*

Jeez Julia do you want me to fly down there and drive you to Mayo to camp out in the lab?????

Right, i'm sure this post has now calmed you down. You're welcome.

[Heather]

Hoping your head has not exploded yet. I am afraid mine is about to and that I am seriously in danger of becoming a cyber-stalker today as I am refreshing at an alarming rate.

Needless to say, sending positive thoughts and prayers your way.

[Spacemom]

Oh! Fornicate with a water fowl at a perculiar angle!
(fuck a duck sideways)

I hate when labs say "Don't read into this" What the hell are you supposed to do?

I hope all comes back well....

[Denise]

Here waiting, with everyone else.

[Beth]

Waiting and hoping for you.

[Emily]

I hope you're doing better with all the waiting than I am! I've never hit refresh so much in one day. My fingers and all other bits are crossed for you, Steve, Patrick and the 13's.