InSEQure

January 24th, 2009 Down syndrome, Thomas

SEQure DX, a first-trimester blood test distributed by Sequenom that could accurately diagnose Down syndrome prenatally was number eight in Time’s list of Top Ten Medical Breakthroughs of 2008.

According to an ABC report about the Sequenom test, 87% of women carrying a child with Down syndrome don’t learn the news until delivery. That was the case for me. I opted out of prenatal testing because the screening available at the time was useless without amniocentesis, and my OB candidly explained that the fetus’s risk of positive diagnosis for T21 and the risk of miscarriage from the amnio were about the same (1:300).

Sequenom’s stock is on the rise. Jim Cramer says buy it. He says SEQure DX is a potentially “revolutionary” product, different than presently available tests because it “captures fetal cells in the mother’s blood and carries no risk to mother or child.”

He’s right, and wrong. The test is indeed revolutionary because it removes the risk of miscarriage from the testing equation–which is a very good thing. But saying it carries no risk is a terrible mistake in semantics.

Let me make this clear from the start: I’m not against prenatal testing, categorically speaking. I’m not against prenatal testing for Down syndrome. I’m not even against SEQure DX, in theory. But in current practice, it’s a different story. Ever since they became available, prenatal screenings for Down syndrome have carried significant risks for the participants because they reveal loaded information. Loaded, as in loaded gun. Although safer in some ways, SEQure DX is much more dangerous in others. Looking beyond the complications of false positives, consider the tens of thousands of mothers using SEQure DX each year who will face life-or-not decisions in the twelfth week of pregnancy, even before they hear a heartbeat or feel a roundhouse kick to the bladder. It’s a risky position, indeed.

Of course, SEQure DX is a controversial product. Some Down syndrome advocates accuse the medical establishment of a Gattaca-like scenario in which medical professionals are deliberately attempting to force fetuses with Down syndrome along the fast track to extinction. I harbor that same concern to some extent, but in my opinion the issue isn’t so black-and-white. OBs, geneticists, and the makers of SEQure DX shouldn’t automatically be tarred with a heavy black eugenics brush. Nor can we blame the whole situation on greed for huge profit margins, although certainly the element of Big Business can’t be ignored. I don’t believe the test necessarily represents evil intent. It’s a tool, and it can be used for good. But is it?

Before SEQure DX, an estimated 90% of fetus with Down syndrome were aborted in the second trimester. I’m relieved beyond words that those women receiving a positive diagnosis who will not carry a fetus with Down syndrome to term for whatever reason will likely be terminating pregnancy at 13 weeks instead of 23. But I’m worried–very worried–about the women on the fence. The grief stemming from a diagnosis of Down syndrome can be strong enough to topple even the most stalwart hearts. I fear that the already astronomical termination rate will rise as women opt out when it’s easier to do so–before the bonds which form and strengthen as pregnancy progresses have a chance to develop.

I wonder if I would’ve said yes to SEQure DX four-and-a-half years ago, when I was pregnant with Thomas. I wonder what I would’ve thought and felt had I opted in and gotten a positive diagnosis. It was hard enough to absorb the news when I had a gorgeous scrunched-up little pink guy to attach the diagnosis to. But I don’t begrudge any woman the information from prenatal testing she desires. Is SEQure DX being used for good? Of course. There are benign reasons for wanting a diagnosis of Down syndrome to come sooner rather than later, and I believe women should continue to have that option. It’s not all about abortion. I’m just sad that so much of it is.

I take heart, though, from legislation like The Kennedy-Brownback bill, shorthand for The Prenatally and Postnatally Diagnosed Conditions Awareness Act. As summarized by Patricia Bauer the purpose of the bill is “to strengthen the informed consent process around prenatal testing.”

It provides for families to receive scientifically sound information about the nature of the condition involved, as well as to help them make connections with support services, websites, hotlines and parent networks. The bill also provides for the development of a national clearinghouse of information for parents of children with disabilities, expansion of peer-support programs, the development of a national registry of families wishing to adopt children with disabilities, and education programs for health care providers who give parents the results of prenatal tests.

President Bush signed the bill on October 8, 2008. Its price tag is $25 million over 5 years. I only wish corporations like Sequenom could be required to ante up. But regardless, if the new law receives needed funding and its stipulations are implemented, women will receive the best possible information and support at the time of diagnosis. And maybe, if they do, the abortion rate of fetuses with Down syndrome won’t move any closer to 100%.

Maybe.

O Captain My Captain

July 5th, 2007 Down syndrome, Thomas

Sitting in the driver’s seat of my van yesterday, I turned around and saw something amazing: Thomas, so big he filled his toddler car seat. He weighs about 24 lbs now. That’s nearly six times his birth weight of 4 lbs, 3 oz.

The day he was discharged from the hospital after a 6 week NICU stay he weighed about 5 lbs. He was swamped by the straps and buckles of his infant car seat. We shoved rolled-up blankets around his tiny limbs, arranged his oxygen tubing just so, and drove him home.

For weeks I fed him by resting him on a pillow on my lap, parallel with my thighs. The soft support enabled him to relax enough to drink from the bottle. Not once did I hoist him onto my shoulder, the way I did with my other newborns. I held him only in the crook of my arm, gingerly.

Twenty months later, it’s hard to reconcile that memory with the strapping toddler before me. His body is solid with muscle. He pulls to a stand with confidence. He smacks his toy piano like an impassioned virtuoso. I feed him in his highchair now, spooning heaping loads of oatmeal into his hollering-hungry mouth. I carry him on my left hip, his knees firmly clenching my middle.

These changes all mirror the evolution of my feelings as Thomas’s mother. How fragile I felt during those early weeks. How scared I was, how vulnerable to the twisting fear of the unknown. I held my son the way I beheld my future: with uncertainty.

Not so now. These days I stride forward with eagerness, with my son heavy on my hip, his arm reaching forward, his fingers pointing the way. I will follow wherever he leads me.

Lucky

December 18th, 2006 Mothering, Thomas

There’s nothing like a trip to the ER to give you some perspective on life.

On Saturday night Thomas woke up in deep distress–couldn’t breathe. As I held him on my chest I could feel his muscles heaving in and out, trying to force his diaphragm into action. I was proud of myself: I calmly called the pediatrician, then woke Reed up to tell him I was leaving for the hospital. “Have fun,” he said.

I didn’t get weird until we were halfway there. It was snowing like mad, and the van was slipping, and from his carseat a few feet behind me, Thomas was trying to cry. I suddenly thought of the scene in A Civil Action where the kid with cancer dies in the backseat of his parents’ car, en route to the ER, during a terrible rainstorm. “Please don’t die. Please don’t die,” I said, although the more likely scenario was that we would both die under the cast-iron bumper of a skidding semi.

When we arrived intact, I wrapped him up in quilts and carried him into the ER. First thing I saw was a blood-covered guy covering his left eye with his mangled-looking hand. “Wine glass to the eye,” I heard the triage nurse explain to an orderly. “Wine glass in the eye.”

Eeeew. And that goes for the injury, the all-too-imaginable scenario that caused it, and the guy’s girlfriend, who was wearing a cheap cocktail dress and flip-flops. For a minute, I almost forgot why we had come.

Thomas had a fun few hours of being suctioned out, x-rayed, poked and prodded, and sprayed with nebulized steroids. Every time they whipped out a new drug or monitor or tube, I couldn’t help but think about how glad I was that I could bring him here, as awful as it was for him. I lay on the hospital bed for hours after the nebulizer treatment. Thomas eventually fell asleep on my chest, and his breathing had eased beautifully. I was so grateful I didn’t have to suffer through this terrible night alone, at home. There’s nothing worse than feeling helpless. And while the omnipotence of modern medicine is a complete farce, in this case at least there were things that could be done, things that helped. All for a measly $75 copay.

My feelings are too complex for me to wrestle cleanly into words right now. All I can say is I can’t believe how lucky I am. I walked that edge where you face a verdict–will it get better, or won’t it?–and got a quick and easy yes. Once upon a time, I thought yes was a given, but these days I know better.

We drove home at 3 a.m. The snow had gathered in the perfect image of Wenceslas’s vision: deep and crisp and even. The whole surface of the world glittered.

Saturday Night

November 28th, 2006 Thomas

I strip Thomas down for his bath. His naked self always surprises me. He’s so big, and not just in the sense of mass. He’s so solid, so alive. His pink light, unveiled, fills the room.

I slide him into his bath ring and watch him smack the water with his pudgy, stubby hands. I scrub his head with white shampoo foam and dig the lint out of his neck folds and armpits and toe-creases. I haul him out, dripping, rub him down, and stuff his shivering flesh into his blue-and-red fleece sleeper. (Literally stuff. He loves to spread his fingers out when I try to thread his arms into his sleeves.)

I cradle him on my lap, warming him, and hold his bottle while he sucks down six ounces of milky heaven. After four ounces his eyelids begin to flutter and his muscles soften. He sinks into my space, heavy with impending sleep.

I carry him to the crib in his darkened room, lay him down, arrange his limbs just so, and pull up the flannel blanket. He lays on his stomach–head resting on his left cheek, slanted eyelids shut, arms bent up at the elbows. The Christmas lights hang twinkling from the eave outside his window. Pink and blue and yellow and green, the light washes across the carpet and touches his face. He is the picture of nostalgia, rosy-cheeked sleeping cherub, all lovely and clean and still.

As I stand and watch, my cells swell to fulness, brimming over with a breathing prayer: thank you.

Children of God

October 19th, 2006 Mothering, Spirituality, Thomas

One year later, the memory is still fresh enough to bring sharp tears.

It’s a given that childbirth is painful. Even with the pain relief measures I’ve accepted each time, it has still hurt. A lot. But Thomas’s birth was in a whole different category of pain.

I think it was a combination of factors–the physical and emotional stress that had built up for two weeks beforehand, the uncertainty and fear that likely accompanies every premature delivery, and the out-of-my-element feeling that resulted from having this round be so unlike my other childbirth experiences. I didn’t know my own body, I didn’t know what would happen, I didn’t know anything. Every expectation I had about what my labor and delivery would be like was turned on its head. The baby, while appropriately turned on his head, must have been facing the wrong way, which meant that he wasn’t moving along the way he should have been. The anesthesia failed. And the Pitocin-fueled contractions were enough to push me right over the edge of composure.

Now logically, everything was just fine in that birthing room. The atmosphere was a bit tense because of the increased risk of problems with the baby’s health, and while all possible preparations were in place to temper a full-blown medical emergency, we never had one.

But I had a little emergency of my own.

It came right at that apex when the pain is intense enough to make me wish for a hasty exit from earth, or at least the freedom to curl up into a tight ball and preserve all my strength for weathering the pain. That’s the exact moment when I’m expected to assume a very un-curled-up position and somehow channel all my strength elsewhere. Of course it’s hard. But what I felt went way beyond hard. Suddenly and unexpectedly, I was walloped with a feeling of hopelessness I’ve never felt before during childbirth.
This was new and unthinkable territory. The determination that had kept me engaged thus far–I have to get through this, for the baby’s sake–began to slip. My concern for self was eclipsing concern for other–and not just any “other,” but the most innocent and vulnerable and dependent and deserving “other” imaginable.

Despair, for a mother, may be defined as thus: being in so much pain and desperation that you’d consider abandoning your child in order to bring yourself relief.

***

When I was first awakening to Christianity I found it difficult to fully sympathize with Jesus. I didn’t doubt that what he endured was awful, much more awful than anything that man has endured. But after all, he wasn’t a regular guy. Didn’t being a demi-god give him just a wee bit of an edge?
It took me years to realize that, in fact, Jesus’ supercapacity did not work in his favor, so to speak. Actually, the opposite was true. Yes, he was stronger–much stronger–than any of us. But that just meant he was able to bear far more. It didn’t make it easier. It just made the depths much, much deeper. And that’s just the beginning. Not only did the depths exceed any place within our ability to grasp, but he also had the capacity to free himself from those depths at any given time.

This is the stunning truth of Christianity: that a being not only voluntarily suffered beyond our puny mortal comprehension, to free us puny mortals, but also sustained his suffering through his own power. His body did not manufacture its own misery, as a woman’s does during labor. He was not just a willing participant in an act beyond his control. The circuit of pain could remain open only through his own unflagging will.

I still cry every time I think about Thomas’s delivery. I’m frightened by the memory of pain so keen and commanding. And I’m ashamed of my weakness, ashamed that I had, even for a fleeting time, looked for an out.

But God is wise enough to not offer us outs in times of creative extremity. No, that’s a torment he reserved only for himself.