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.