Friday, March 21, 2008

Late Friday Afternoon News Releases are Never Good

Genetics called, and we struck out. Goose eggs all around. But we did discover something during the phone call; apparently the "it's most likely a autosomal recessive disorder (but could be infection, but really probably not, because infections leave traces and do specific things and none of this is evident, but just to cover our butts)" line was not so much a unified front between our two point doctors, but a disagreement. Apparently this whole time they've been playing "naynahnaynah" with each other, as pathology reports and assorted tests failed to prove either of them correct. "You can't prove your caus-a-tion" (sung, annoyingly sing-songy, with tongue out, natch).

Turns out the one actually does think it was an infection. Just not one medical science is currently aware of. From what I gather, this doctor is putting all his grim-reaper eggs in one basket: Maddy had an echogenic bowel at 28w that was gone by 32w. The most common cause of these feared bright spots on the ultrasound is infection, but usually of the garden variety TORCH Infections, and so they tested me for all of that (a lot of it for the second time), and we came up with nothing. (And for clarification, Maddy and I were both again tested for these same infections and more within a day after her birth with the same negative result.) (Should you go read what causes echogenic bowels: we scratched Down's, CF, and the Torch Infections off the list with a few blood tests, and assumed it was ingested blood from my long-term subchorionic bleed, or nothing. And "nothing" is a totally feasible explanation for echogenic bowels in the thrid trimester, from what I gather.) So what the fuck "Infection" is this guy talking about? could be one of those crazy situations where the baby's antibodies attack mom. Or something. It is totally possible that Maddy had a genetic disorder which made her susceptible to some bizzaro infection, in which case they both win, and they split the bedroom set down the middle and come back next week for the playoff. The doctor trying to argue infection also has some tough explaining to do; Maddy's problems were clearly long term, evolving from a problem extremely early on in gestation. So why the sudden infectious marker at 28w and not earlier? (And remember, by 28w I had undergone 10 or so of my 12-14 ultrasounds.) There is no way to disprove his side, but no way to prove it either. The infectious side is made on a house of assumptions and the basic fact that the other side can't prove their case.

Sadly, there's no way to prove or disprove the genetic side, either. Maddy's genetics have been combed through by the genome experts at Ba.y.lor; in one case, she was only the second human trial. They found nothing. The doctor arguing in favor of the killer genetics relies heavily on the multi-system crash, severity of multiple crashes, and uniqueness of problems to assume it's autosomal recessive. Again, assumption, assumption, conclusive assumption based on facts and non-proof of other side. Both doctors apparently presented Maddy's case to outside doctors at two conferences, and even there, the ringer "Guess that Cause of BabyDeath!" doctors disagreed on whether her case presented more infection or genetic. "I'll take enlarged heart muscle and depleted mitochondria for $500!"

In short, we have no idea why she died. We have a 1-25% of having a dead baby, with no possible way of knowing the baby will die prenatally. They would like us, should we want to partake in this life-affirming expansion of our family, to use an egg or sperm donor, just in case. Not that someone else's reproductive material will make a whit of difference should I happen to harbor some never-before-seen infectious catastrophe. We will know if the baby is viable when he or she is born, presuming we make it that far. Which, should I choose to go through this exercise, will (if I continue to follow their wish list) happen at Children's or right next door with them present in the room.

No, that won't be awkward at all to have the doctors who told me Maddy would die watching me deliver another baby, not at all. I'll probably be used to it by that point, what with the recurring nightmare and all.

This is exactly what I'd expected, the strike out in the genetic lottery and the shrugged shoulders, and I had no hope of them delivering the magic bullet. That scenario never once played through my head. So I'm trying to be level about this, and didn't realize how upset I was until I ruined dinner by dropped the blender full of marinade on the floor and erupting into a screaming, cursing, sobbing pile of frustration. It's especially rough when the late Friday afternoon phone call ends, "Is there anything I can do for you other than tell you I'm sorry we have no answers?"

29 comments:

Bon said...

nope, late Friday on a holiday isn't a good time for news. Good Friday worse than Purim, i'm thinking, so my guess is you fell on the Gentile side of the news today.

which is my way of saying i'm sorry. my own experience of the "sorry, no answers" game had the same stakes and odds but with the problems at least clearly parked in the camp of my physiology, with possible interventions available. you got left in the wasteland of nowhere, and that gives you nowhere clear to go...which sucks, even if it's the news you were expecting.

Antigone said...

GeezusChrist, you have to go thru a year of this to end up with 'beats me'?

sweetsalty kate said...

That's infuriating. No answers? Christ. They only have names for this stuff, classifications - not reasons. Totally useless except when you're at a dinner party and in need of a quick, neat and tidy explanation, an official-sounding label for your shit luck.

I'm sorry too. I'm frustrated for you. I don't know how anybody moves into another pregnancy after this, especially without some reassurance that lightning doesn't strike twice.

CDE said...

This is the sucky part where science intersects with human life. I completely understand where they're coming from, and I completely understand your frustration. They're talking in terms of research and theory, and that's the last thing you need right now.

kalakly said...

Holy Crap already...my head wants to explode from frustration FOR you, I can't imagine what yours feels like. I have to wonder if they are doing the they hear hoofbeats and instead of thinking horses they are looking for zebras dance. You know? Maybe they are looking too hard for some wildly exotic explanation and the answer really is just that you got shit luck, luck thats not even likely to happen again, I mean genetically speaking. I like to think Dr. I'll take infection for $500 is right, that something got in there, screwed up Maddy as she was just starting out and doomed her from the beginning. For the other "contestant' doc to be right, it just seems that too many really bizarrely unlikely things would have had to happen, all at the same time, and they can't even say what those things are, the things that had to go wrong, only that they must have, gone wrong I mean.
I'm so sorry you didn't get answers Tash. I know you have done everything you can to try to find the reasons for losing her and to try to figure out which way you should go now. How do they even come up with the 1-25% number if they have no clue what went wrong in the first place? If she's one of 2 babies ever (I can't remember exactly but I seem to think when you were writing about her days here that you mentioned something about her being in an extremely 'unique' minority) to present like this, why would they/docs think you could someohow manage to produce another one, exactly like that, back to back, especially given that you have a decidedly perfectly healthy ALIVE daughter?
I'm probably not helping at all, so I'll stop now, sorry I went on and on. I hope tomorrow is a better day for you, I really do.

Aurelia said...

Oh lord...well first I'll just say that this sucks, but I do have some practical advice.

Dr.Salafia at www.earlypath.com is the leading expert in placental pathology in the US. She discovered my clotting and inflammation problem when no other Doc did. And it's not expensive for her to review your slides and case.

And about my genetic clotting disorder? I tested negative for every one of them in 2003, and then they 'invented' a new one in 2005 and decided that I should've been on heparin and aspirin all along.

You need to get some new opinions from other people, unrelated to this hospital network. If for nothing else, than to feel at peace and get some closure.

And btw, if they can't figure out what is wrong genetically, then why would you use donor gametes? You have no idea if one of you needs replacing for sure, or which one, sperm of egg. (And both quality can be improved if you've read the news about folic acid and men's sperm quality) Meanwhile, with donors, you could end up with a whole other set of bad genes, depending on how they intersect. (Cause that's the other possibility, it could just be a random genetic accident due to a particular way a few genes knit together, and it will never happen again.)

Genetics know a lot these days, and if they found that both of yours and Maddie's genes were clear, then I really think that Dr.Salafia's second opinion could help clarify things.

Julia said...

Oh, man. Sorry. A million times over. Because it sounds like one crappy Friday. And because it's not looking so hot for the next many Fridays ahead. I am sorry.

I want to talk to you about some of this later. I am left thinking maybe two pairs of recessive alleles, blocking two pathways to the same place, for the grand total of 6.25% likelihood. Or maybe yes, infection. They are just starting to figure out it can get through intact membranes. I am doing clean catch every time to look for our friend GBS, but shit, there is a million of these MoFoes out there. Who the hell knows what is lurking this time.

For now I just want to tell you again that I am sorry. This blows.

tipsymarie said...

I am sorry you don't have any answers for her death - or at the very least, some reassurances for a future pregnancy. It seems the least you are owed.

Ange said...

for god's sake I am sorry to hear you do not have any clear answers after such a long time. Some good advice getting some other opinions but its so frustrating I'm sure. thinking of you and hoping you find some peace.

Megan said...

Fuck. I'm so, so sorry, Tash.

Waiting Amy said...

Sometimes it's hard to get just what you expected. I'm sorry there were no brilliant revelations.

Like Julia, I wonder what the odds really are for this to happen again. But these are all impossible questions to conquer.

I don't know how you even decide what to do for the future. I simply can't imagine. All I can offer is to be here and listen when you want to "talk" about it.

Wishing you some peace this weekend.

niobe said...

I'm desparately sorry that there aren't any clear answers. Because (as I'm very well aware) even if the answer and resulting percentages are not what you'd like to hear, the fact that there *is* an answer makes it easier to make decisions about what to do. This really puts you in an impossible situation.

c. said...

That's awful, Tash. Getting no answer must be absolutely tortuous to your mind (and heart) after an entire year of waiting. I mean, I can't imagine that a definitive answer would have you doing cartwheels on your front lawn, but, at the very least, it would help you and Mr. ABF as you move forward. As it stands, where do you go now? I'm so sorry. I really am.

Amy said...

Good Friday my A**! Tash, you have gone thru so much. (A whole freakin' year of which way do we go? Which, way do we go George?)My heart aches for you and Maddy. I'm not sure what is worse, having no answers at all or having them all. In my case it doesn't matter nothing brings my child back. I'm thinking that's kind of how you are feeling except that you would like answers to move forward. TT.C., I guess. I wish I had something eloquent to say but I don't. Just know you are in my thoughts and yes my prayers and I hope someday you find some peace.

Newt said...

I'm so sorry. That sucks like a five-dollar whore.

I don't know where you go from here, but I will be following your story, and I hope you get some answers.

G said...

That's a lovely big bag of nothing for a Good Friday. I am sorry Tash :(

Are they done with their research on it for the most part now? Or will they continue to pass it around the world for someone to possibly find something? I mean, I know they probably will, but maybe not so actively now?

I hope you were able to fill that blender with something better than marinade. Oh wait, that's my fucked up coping mechanism.

xo
g

CLC said...

I am so sorry Tash that you had to get this news, or lack of news, I should say. I can't imagine how frustrated you must be. I don't understand how they can come up with percentages of this happening again, if they are not even sure what happened. I am sure it's very scary to think about the future and what you want to do. I am thinking about you and Mr. ABF and praying for the both of you. I don't know if prayers help anymore, but I gotta hold onto my last bit of faith that it helps somehow. Again, I am so sorry you still don't have any answers.

kate said...

I'm sorry....that's all i got. I wish i had something helpful to add, but i don't. This just sucks.

STE said...

I'm so sorry you still have no answers after all this time, and all the research.

Our Peri said the placental pathology didn't really show anything, any reason for the rupture or Joshua's passing, no indication of infection or insufficient plac due to my clotting disorder. I can't remember now why we decided against the autopsies.

When I first got the report, before I talked to him, I practically earned a degree at goo.gle university looking for meaning. Initially it makes me feel like I have (or will have) some control over the situation, but then it just leaves me panicky, learning again and again about the chaos of the universe. I hate that.

He also said that even with a singleton our chances for pprom again is about 12%.

If I've learned anything from this, it's that medicine is more art than science. And if I never hear another doctor say "If I had a crystal ball...." it will be too soon.

C is reticent about even talking about trying for another, because the risk of another loss, especially with no information, is just too frightening for him right now.

Sorry this is so long. You are in my thoughts.

Searching said...

I have nothing to add except a middle finger to the universe and a big bear hug for you.

Natalie said...

Oh my gosh... I'm just so frustrated and angry for you that that's all they can give you. I think Searching said it best... big middle finger to the universe.

The Town Criers said...

I think I would have thrown the blender rather than just dropping it. I'm so sorry.

Lisa b said...

I'm sorry Tash. It sucks that you don't have any answers.

Which Box said...

it stinks, it really does. I don't have much to offer beyond what everyone has said. Odds are odds, you know - who the hell really knows what they'd really mean for the next time, if there was a next time. Certainty would certainly help more than odds that seem to be almost made up. I guess you just have to decide what you could put up with, what more you could tolerate. Maybe the answer is no more. Maybe it's another go. I hope you, your husband, and your daughter come to a solution that's right for all three of you.

Kristen said...

Visiting from L&F and wanted to say I'm sorry that you couldn't get a definitive answer. It is always more comforting to have the smoking gun or the A-HA. I wish there was more to say. XOXO

A.M.S. said...

Dammit, Tash, I'm so sorry. There's nothing better I can say because it all sounds so lame. You're just going to have to know what's in my heart when I say, "I'm sorry."

loribeth said...

I'm sorry you weren't able to get more definitive answers. It truly is maddening. My ears (eyes?) pricked up when I read your post, because my daughter (stillborn at 26 weeks, 10 years ago) also had an echogenic bowel. We did a CF test (negative) & had amnio (no Downs), no infections they could find, so we assumed it was ingested blood (which made sense, because I spotted all through my first trimester, & there was a clot on the placenta). (((hugs))) to you.

Coggy said...

I feel like I should apologize on the behalf of scientists in situations like this. The interest of the academic element of all things unexplainable seems to bring out the worst in researchers. Very few of them have any idea what it's like to be on the receiving end of their results and their interesting scientific debates.

I used to carry out research in the cancer field, I guess I never really understood the direct impact of my research until my Dad was diagnosed with lung cancer. He was ill for a year before dying and I found it increasingly difficult to sit and listen to eminent researchers discussing their 'interesting' observations and findings. Increasingly I began to realize that for many it was just that a way for them to flex their academic prowess and enter into a pissing contest with fellow researcher, which basically resulted in no definite answers.
I don't know what you do with this information Tash. Are there more researchers/doctors who might be able to give you a second opinion? If I can help find anyone please let me know, I'm more than willing to dig around through publications if it might help.

Brooke said...

I am so sorry that you still have no answers. I am absolutely terrified that when we get the results of my sons autopsy that we will be given the same "well it might have been THIS (but theres no definitive proof/evidence/answer)" or "well it might have been THAT (but theres no dinfinitive proof/evidence/answer)"

In short I'm so sorry that you cant get the answers I know you need.