'Perfect' or 'abnormal:' Which one is your baby?
By Louise Kinross
It all began so simply.
I was a couple of months pregnant with my first child. My obstetrician asked if I wanted maternal serum screening. I knew this blood test (called alpha-fetoprotein or AFP for short) detected risk for Down syndrome in a fetus. I also knew it was known for false-positives.
I had never seriously thought about prenatal genetic testing. "Can you ask me again so I can think about it?" I said.
A couple of weeks later I went for routine blood tests and was surprised to see the AFP ticked off on the requisition.
Why hadn't the doctor asked me if I wanted this test?
I was angry.
But I was a healthy 30-year-old woman and I was here at the lab giving blood anyway. What could it hurt?
Two weeks went by and my sister-in-law—a physician—reassured me that if there was a problem I would have heard by now.
The next day I picked up a voice mail from my doctor: “You have an increased risk of having a Down syndrome baby and need to get down to the hospital tomorrow for counselling."
My heart sped up. Was something wrong with my baby?
D'Arcy and I went to the hospital clinic. The genetics counsellor looked fresh out of college, with a large textbook open on her desk. She said I had an elevated level of AFP which gave me a 1 in 200 chance of having a child with Down syndrome, instead of the regular odds of 1 in 400 for a woman my age.
The numbers meant nothing to me.
I could have an amniocentesis to confirm or rule out the diagnosis, the counsellor said—but the procedure came with a 1 in 200 risk of miscarrying the baby.
I had the same odds of having a baby with Down syndrome as losing the baby from the amnio test! I didn't want to lose this baby, which was already moving inside me.
The “counsellor” part of genetics counsellor proved a misnomer. There was no discussion about our values, what parenting meant to us, or how we felt about screening for and aborting a fetus with genetic disabilities. Other than a recounting of the dry statistics, there was no discussion at all.
If I wanted the amnio, I had to have it the next day, the counsellor said; I was at the tail end of when they conducted terminations.
D'Arcy and I wanted this baby.
How would I make a decision? I couldn't make a decision, I told the counsellor.
She gave us two pamphlets. One had a scant, two-paragraph description of Down syndrome on it. It described the condition in stark medical terms, listing one "defect" after another. It ended with an odd sentence about how Down syndrome babies could also be happy and lovable—as if clarification was needed that these children were, in fact, human.
The other—a pink brochure—was about termination. What exactly was it? It was a “mini-labour,” the pamphlet said, making it sound as inconsequential as a manicure. Nowhere on the pamphlet did it describe termination as abortion, and nowhere did it state the method at 16 weeks.
I didn't know it at the time, but there's nothing “mini” about a termination of a four-month-old fetus. The fetus' heartbeat is stopped by injection, regular labour is induced and can go on for hours, and a fully-formed, dead fetus is delivered (parents often have hand and footprints taken as a memento).
When I couldn't make a decision about whether to have the amnio test, the genetics counsellor suggested I speak to an obstetrician who would counsel me.
“Look,” said the grey-haired man in a white coat. “If you have an (amnio-induced) miscarriage you'll be depressed, but then you'll get pregnant again and have a normal baby. But,” he began to squawk, eyes popping and mouth twisting, “if you have a Down syndrome baby, that'll be a burden you live with for the rest of your life!”
I cowered in my chair like a child.
We left the hospital in a vacuum filled by the two-paragraph medical description of Down syndrome, the obstetrician's tirade, and the knowledge that the deadline for the amnio loomed the next day.
I didn't search out more information when we got home. I was full of moral angst and indecision but it didn't seem to be the kind of thing you talked about. Oddly, I didn't jump on the computer and research everything there was to know about Down syndrome.
I had little firsthand experience with disability to draw on. Kids with intellectual disabilities didn't go to neighbourhood schools when I grew up. I remembered Bobby, the oldest of six children in a family that lived on a street behind our house. Bobby had Down syndrome and was dropped off in a station wagon from a sheltered workshop in the afternoon. He always ran, head down, into the house. Even as a child, I sensed that his dropped head signalled something bad, something sad or shameful.
I had been brought up with a sense of the value of all human life and with a wariness of medical intervention.
However, it appeared that this was an outdated way of thinking. My therapist told me she would abort if she was carrying a child with Down syndrome. “Life is hard enough when you have your wits about you,” she said.
Of course at this point I hoped it was all a mistake and I would never be faced with making a decision.
I had the test, not having a clue what I would do if it came back positive.
For the next week, I was gripped with anxiety. I would sit, holding my belly, knowing that at a gut level, the idea of aborting a child with a genetic flaw wasn't compatible with my values. It didn't feel right. Every fibre of my body was opposed to judging the life inside of me as unacceptable and needing to be expelled. If I couldn't accept this baby—a part of me, and entrusted to my protection—how could I accept myself?
But the doctor's voice echoed in my mind: the responsible thing to do was to abort this "burden." I pictured myself walking into the hospital, suitcase in hand, emotions shut down.
My husband D'Arcy said he would support whatever I decided, but mainly he chose to believe that everything would come back fine.
And it did.
We were elated to receive a phone call that the amnio result was in and it was “normal.”
I didn't realize that the amnio, at the time, only tested for a certain number of major genetic conditions. Because the limits of the test hadn't been explained to me, I interpreted the result of normal—which also wasn't explained to me—to mean that my child was normal (whatever that means!). With the full information that the amnio doesn't test for a host of rare genetic conditions, I don't know if I would have taken it.
Having received a clean bill of health from the gold standard of prenatal testing, it was a surprise when we were told shortly after Ben's birth that he had a constellation of symptoms that indicated a chromosome problem.
"But I had a normal amnio?" I questioned. 'How could that be?"
I soon learned that I wasn't the only one with the perception that amniocentesis was infallible. Professionals and lay folk alike were befuddled that I could have both a normal amnio and a child with a genetic condition.
D'Arcy and I had always planned on having at least three children, and we wanted them to be close in age.
When Ben was about seven months old, I began thinking about when I would try to get pregnant again—in the new year, I thought, when Ben was about a year old.
I went to see my family doctor and was surprised when she tried to talk me out of getting pregnant again so soon. I interpreted her response as a negative reflection on Ben: why would we want to take on another child when we already had our hands full with a child with a genetic diagnosis?
That got my back up.
I didn't want Ben's condition to put limits on our dreams. I didn't want to make having another child "conditional” on Ben's progress. That wouldn't be fair to him or to us.
But the thought of pregnancy was now filled with anxiety and trepidation: Would our second child be born with medical problems or disabilities? What if our second child had Langer-Giedion Syndrome?
We were told the likelihood was less than 1 per cent because Ben's genetic deletion was random or spontaneous and not related to a change D'Arcy and I carried. In fact, shortly after Ben's disorder was diagnosed, a genetics counsellor enthused: “You have every chance of having a perfect baby—next time!”
But numbers meant nothing to us.
One day while I was agonizing over this, D'Arcy turned to me and said: "Louise, I love Ben. If we were to have another Ben, I would be ecstatic."
That was a turning point.
I became pregnant again when Ben was 18 months old, at age 31. Amnio wasn't available to moms of my age, but because we already had one child with a genetic condition, it was offered.
To say I was conflicted was an understatement.
The first time around it plagued my pregnancy with fear. Now, as the mother of a dearly loved child with a genetic condition, I couldn't imagine aborting a child with a similar condition. What would that say about the value I placed on my son Ben's life? How would I ever look at Ben again, knowing I had stopped the heartbeat of another fetus like him—because it didn't "measure up."
On the other hand, the fact that we were being offered the testing seemed to imply it was the medically appropriate or responsible thing to do. And an unfortunate corollary of that, which soon entered my mind, was that if we didn't have the testing, people would think we had 'chosen' to have a child with a disability—or that we had somehow caused the disability or failed to prevent it (even though prevention in this case meant eliminating the child): “They already have one child with disabilities. How could they have another?”
It seemed guilt would be my companion, no matter which course of action I took.
As I wrestled with whether to have the test or not, I also tried to predict what it would be like to have two children with disabilities (I've since learned that we're bad at predicting our ability to cope with a situation).
I sobbed to a friend that I didn't think I could handle the emotions of having two children with disabilities -- which I pictured as the grief, fear and anxiety associated with Ben—times 2.
But I believe it was more that I didn't think I could handle the stigma—the self-consciousness of feeling that others were looking at my kids and judging them as less than whole.
One of the greatest sorrows we experienced with Ben was others not delighting in him the way we did. A joy of parenting is seeing your child bring happiness to others: it's painful when people focus on the disability instead and feel sorry for you.
Ironically, the obstetrician who made his bias to terminate clear when I had an amnio with Ben, was the same obstetrician I was sent to for prenatal counselling with my second pregnancy.
When I appeared at his door, he looked up from my chart with annoyance and said: "Why are you here? We don't offer amniocentesis to women at age 31."
His entire demeanor softened, however, when I told him I already had a child with a genetic condition.
He paged through my chart to find the letter from my genetics counsellor outlining Ben's genetic condition and its symptoms.
Suddenly, he understood completely, he said "why you would want to do everything in your power to prevent having another abnormal baby."
We were back in the black and white land of perfect and imperfect babies, normal and abnormal babies.
The obstetrician emphatically supported my having an amniocentesis and I went along with him. I was young and lacked the confidence to do what I felt was right—regardless of what others thought.
The day of the test, I was an emotional wreck. Everything inside of me was screaming "no, no, no"— don’t touch my baby. But my fear of judgment should I not test and give birth to a child with disabilities was greater.
My first amnio with Ben had been painless. When the doctor inserted the long needle into my lower abdomen with Lucy, I felt acute, shooting pain and I struggled to lie still. How had inserting a needle into a pregnant women's stomach while you watched the baby on ultrasound—praying it wouldn’t get hit—become a normal part of pregnancy? It was so unnatural, so foreign. I felt victimized.
Prenatal testing has transformed pregnancy from a time of joy and hope to one of dread. Will your baby pass the test? The focus is on weeding out and eliminating 'wrongful' life. It's based on a belief in the power of technology to eradicate human pain—that life can be emotionally and physically pain-free if we get rid of certain health and disabling conditions. But getting rid of them doesn't mean preventing them, it means eliminating the children who carry them. And can a 'good life' be defined by health and intellect alone?
When Lucy's amnio came back “normal,” we were somewhat relieved, but it didn't quell our anxiety. We had had a normal amnio with Ben. Near the end of the pregnancy, the obstetrician said Lucy wasn't growing properly—she was smaller than expected for her age. I had to go for special high-tech ultrasounds every couple of days at the hospital. I began to fear that like Ben, Lucy had a growth problem. “Could it be a genetic condition,” I asked the obstetrician?
“No,” he said. “You had a normal amnio.”
“Exactly,” I said, reminding him that an amnio didn't detect the genetic deletion in my son.
Photo above is of Ben's feet at three days old. The geneticist thought they were unusually wrinkly and a photo of his feet—and his characteristic facial features—were ordered. Those are D'Arcy's hands holding his feet, and it makes me smile to remember that Ben had already stolen our hearts.