Thursday, September 20, 2007

Science Lesson

I promised there would be medical information. A few words before I begin down this road, and yes, it will come over a series of posts so you can turn off the coffee pot, put down the notebook and pencil, and reshelf Grey’s.

Part of helping me through my grief has been sifting through the medical wreckage that was Maddalena’s brief life. I think this is largely because this is what she was really: a medical mess, and continuing to speak of the mess is to continue to think and speak of her. Which I love to do. It is all I know of her, Maddy of the tubes and machines. There are a precious few photos of us in the delivery room, all smiles and relief and tiredness, Maddy in just a simple blanket, before the hubcaps flew off the already loosening bus wheels. And even though these are the only pictures I have of Maddy without gear, I can’t bear to look at them even now, six (check that, seven) months later. It’s as if they’re a lie, that the baby in the photos wasn’t her really, and that certainly wasn’t me. It’s the very last few seconds of my “before” life, and I can’t bear to witness it. The photos that line my mantle are Maddy and her increasing collection of wires and whatnot, because that was the true her, the real her, the Maddy I came to love and miss every day.

But before you rip out the tissues, let me also say that the medical stuff is a wee bit fascinating. If I were to pick up a New Yorker and stumble across an article by Atul Gawande about a 30-something couple who shockingly and tragically produced a beautiful-looking yet profoundly rare six-pound genetic fuck up, I probably couldn’t put it down. Then again, I’d have a hard time putting down a Gawande article on gallstones or wart removal, so who knows? Feel free to put his down and don’t go copying and pasting my scientific explanations into Wikipedia is all I’m saying.

When an infant dies, pathologists et al look at three categories of causes of death: infection; some category whose title I’m forgetting but basically “accidental” things like cords wrapped around necks and freak aneurysms and people stabbing mom and all that good stuff you don’t want to contemplate but CNN apparently does; and genetic. I’ll talk more about the categories as the tale progresses, but note that pediatricians ALWAYS suspect infection, and genetics is about the biggest black-hole of infinite medical problems there is.

If you remember from high school, and I don’t so no judgment, genetics control things like what color eyes you have, whether you got uncle Bob’s prostate cancer gene, or whether you pee standing up or sitting down. The vast umbrella of genetic errors that could occur during reproduction include chromosomal problems, and the infinite number of things that can happen to genes themselves: mutations, translocations, dominant yuk that runs amok through families, and the occasional recessive garbage that two people who fall in love happen to both carry. These genetic miscues can lead to a number of outcomes, in our case they seem to be most interested in metabolic disorders in which the body doesn’t have enough energy to grow itself properly in utero or function postpartum. There are a zillion genetic combinations, and hence, a zillion number of problems that can occur. And as much as we know about genes nowadays, we don’t know it all. We can determine whether you carry the breast cancer gene, or if Dad has a funny translocation on or between certain chromosomes, or if two star-crossed lovers sadly carry the Tay-Sachs or Cystic Fibrosis genes, making their chances of having offspring with these disorders 1:4. But there are innumerable freaky problems that have not yet been mapped on the double helix.

Remember the blue eye charts from high school biology? No? Too busy naming your frog cadaver and giggling over the word “testes”? Yup, me too. So here’s a refresher: Mom’s got brown eyes, but carries a copy of the recessive blue eye gene. That means she has big B, little b eye genes, or Bb. Dad is the same, Bb. You draw a grid, and plug in the four possible outcomes of one of mom’s genes combining with one of dad’s, and get: BB, Bb, Bb, and bb. Big B brown eye gene is dominant, remember? It kicks little b’s blue-eyed ass if combined? So mom and dad’s kids have a 3:4 chance of having brown eyes, and 1:4 chance of having blue (bb). The ONLY way to get blue eyes is to inherit TWO little b’s. (Well, according to high school biology, but a physician I overheard in a sushi bar once claimed that this wasn’t entirely the case. I was too absorbed in my unagi to pay much attention – maybe some biologically astute person could sort that one out for me.)

After sifting through the detritus of Maddy’s genetics, and they’re still sorting (her genetic information as it were is presently in New York City (at my alma mater no less -- do you think this counts as a legacy admission?), Iowa, Texas, and Amsterdam. I like to think she’s well-traveled), the reigning theory at the moment is that Maddy suffered from a perhaps never-before-seen, or at least profoundly rare, autosomal recessive disorder. That is both Mr. ABF and I carry a copy of some bizzaro lethal recessive gene (we’ll call it little “f” for . . . oh please, you know me by now) that when inherited from both of us (ff) turns a baby’s brain into liquid mush. Because no one as of yet has seen anything quite like Maddy (“severe if not unique” was the theme at the postmortem), there is absolutely no way of knowing what gene in the tens of thousands it is. Thus, we were never tested because we didn’t know what on earth to look for (Bella apparently slipped through the 75% part, but she could carry a copy of this nonsense – she could be FF or Ff; the miscarriage I had before Bella apparently was not as lucky). Amnio just sifts through the chromosomes to make sure they’re all there, none are missing, there aren’t any extras, and there aren’t any major breaks. All of Maddy’s proved to be a-ok, both during the pregnancy and even during the serious looksie afterwards. It was this little f pair that she got by some shit roll of the dice that led to her demise.

Doctors, being lawyers in their other lives, cannot state anything “for certain.” They cannot rule out this being the result of an infection, although the pathologists at Children’s Hospital found zero indication of one despite their insistence that infection is the cause of nearly everything deadly in a baby, and Ockham’s Razor and all that, not to mention all of their looking again and again. Apparently in utero infections leave traces of whatnot, and there were none to be found. Also a bit odd to have BOTH an infection AND to be born with glaucoma. I suppose some babies are less lucky than others (and boy would ours fall into that category), but the docs tell us that glaucoma does not usually arise from infection, and that the chances of getting two separate but outstandingly serious problems are slim. Ditto for “accidents” like aneurysms which may (may) have cooked her brain in this odd way, but would be less helpful in explaining the super rare and lethal protein they found floating around in her system. So, to the best of their ability, they’re scoring this auto-recessive, and giving us at least 1:4 odds of having another similarly afflicted child.

But here’s the rub: should we decide to try and reproduce again (and believe me, there are scores of blogposts lined up about my infertility history and the agony of thinking about sitting down at the big table with the universe again and trying to roll some lucky sevens), there is no way to determine if the proposed future fetus carries two copies of deadly ff insanity until the baby is born. They don’t know what gene is responsible, so there’s no way to test for it. And despite the fact that Maddy was born with numerous, serious problems, NONE of them – not the liquefied white matter in her brain, the enlarged heart muscle, the glaucoma, the bizzaro protein – are identifiable via ultrasound or otherwise. To the perinatolgists who monitored my bleeds and placenta, and took some time to scope out and count body parts and take measurements, Maddy was a well formed, 4-chambered-heart, two-kidneyed, one livered, right-sized brain, solid heart-beating, no nuchal folds, chromosomally sound, measuring-on-target little girl. And believe me you, 1:4 when the 1 is another dead baby after 40 weeks of pregnancy are not odds I’m willing to play with. Gotta know when to fold ‘em and walk away and run like hell.

How rare an ff are we talking? We have some idea: Maddy’s information was shipped off to a guy in Holland who studies the bizzaro protein found in her system. IF (and this is a big IF) Maddy falls under the category of the disorder he studies, she will be one of less than 5 afflicted children in the world, and the ONLY one of nonconsanguineous parents. Nonconhuh? Maddy would be the only one whose parents aren’t related. All of the other ff kids (IF this turns out to be her problem) are from communities where people don’t leave much, so they tend to marry distant cousins. Mr. ABF and I aren’t even from the same ethnic background. So, the chances that we BOTH carry a copy of this f and that we met, fell in love, and reproduced is . . . um, well, basic statistics are failing me here but the current world population is up around 6 billion and with only 5 or so alleged ff kids, us being the only two parents to leave the mountain top . . . . let’s just say we have a better chance of getting hit by lightning twice as our plane gets slammed by a meteor while we’re on the phone confirming that we’ve won Powerball.

The doctors at children’s hospital, bless ‘em, are still looking for (and apparently charging me to explain) an answer to Maddy’s issue. Obviously, should someone in the wide world of genetics recognize one of Maddy’s problems and determine that it corresponds with the freaky little f gene s/he’s been looking at for that obscure med journal article, then we’ll know, and we’ll know what to test for. If this happens, we could test Bella to see if she’s a carrier (and if she is, she could have her future baby’s daddy test as well), and more to the point, Mr. ABF and I could test a future baby early in the pregnancy via CVS or amnio to see if s/he was afflicted too and save us a bunch of time and heartache and blog hassle. It would, in a sense, give us an answer. But the doctors have pretty much told us not to hold our breaths. They claim that when they show others Maddy’s autopsy results that a not-unusual response is “never in my two decades of [oddball neurological science subfield] have I ever seen a case like this.” In other words, we may never know.

Would an answer be nice? Sure, hell ya. In the way that I used to churn through calculus problems for pages to end up with x=.0267 and look in the back to discover . . . . lo! I was right! Relief. Order in the universe. Gratification. But would this be “closure?” I think if the docs had sat us down and told us Maddy had died of a gunshot wound, I’d still be here, still feeling just as crappy, still blogging away, still missing my beautiful baby girl.


Elizabeth said...

Thank you for walking us through what you know about Maddy's death. I hope you will get more answers some day - not because it will lessen the pain any, but just to satisfy that basic human need to understand things.

Searching said...

I'm so, so sorry about your sweet Maddy's death! How unfair to have to lose her, a perfect baby girl that was so desperately wanted. I hate the way the world works sometimes. I'm sorry they have no answers for you and only this horridly messed up possible explanation. Your family will be in my prayers.

orodemniades said...

I am unable to even attempt to imagine what you and your family are going through. To say, I'm so sorry, sounds so trite, yet I don't know what else to say, except...thank you for sharing your story.

Lisa Hirsch said...

I am so, so sorry for your loss. There are no words adequate.

Lynn Kendall said...

Just reading about this is devastating. I cannot imagine your life now, although several of my closest friends have gone through the grief of an infant's death.

Many more of us have lost a child or a young relative. When my niece died, my life shattered.

I came here via the discussion on Body Impolitic. Thank you for your courage in speaking up. And I am so sorry for your loss.

Julia said...

I am new, and stepped back here through the posts currently at the top. I am so sorry about Maddy's death. My son died only two and a half weeks before her, so I recognize a lot of emotions you write about.

As a biologist though, I am kinda suspicious of the ff thing. In those don't travel far populations, the rate of any ff screw-up should be higher than 5 overall. It kinda sounds to me like an f1f1 f2f2 kind of odds, a compound recessive issue (sort of like some eye colors, actually). I don't know whether this helps any at all. Have you heard anything about the tests from Holland yet?

Antigone said...

My older brother was born with a devastatingly debilitating herited disorder. Nobody knew or understood exactly what it was. Thirty years after his birth, they finally figured it out. It's one of those rare and recessive genetic mismatches. My parents were each unlucky enough to carry this rare recessive gene and even unluckier to decide to mate with each other. I'm one of the 3:4. Before finding out, I'd decided I wouldn't reproduce because I didn't know if I had good genetic material. After I found out, well, I started trying to get pregnant - guilt free. And now here I am. I don't know what the problem is yet. I'm hoping I just have antiphospholipid antibody syndrome. How ironic if it were genetic.

littleharves said...

hi just wanted you to know that your story is my story right down to the test with the doctors in the netherlands. the big difference being that harvey lived for 13 months. our results just came back as clear!. clear was a very odd term to use though, tests coming back as clear generally make you want to cry whoopee! harveys 'clearness' killed him. i am now on a 2ww with ivf using donor sperm as we weren't prepared to take the 1 in 4 risk. harvey had many many challenges in his short life. i invite you to visit my blog , warm hugs, anne xxx

running1 said...

Hi, a woman in my support group referred me to your blog. In our plsp, we are the only parents who have a surviving child. My toddler is a girl and we lost our second daughter. So many of the things that you say hit home. So home. Did i mention a crazy dog too. I really look forward to reading more. Especially what its like year later. Thank you for taking the time to write. I love your sense of humor.