Tuesday, September 27, 2011

'Perfect' or 'abnormal:' Which one is your baby?
















'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 feetand his characteristic facial featureswere ordered. Those are D'Arcy's hands holding his feet, and it makes me smile to remember that Ben had already stolen our hearts.

16 comments:

I adopted my granddaughter, who has autism, Fetal Alcolhol, and Bipolar Disorder. She may be "abnormal", but she is perfectly her. I wouldn't change any of her.

Louise,

This is a very thought provoking post.

I too had an amnio with Dempsey to see if she had the same terminal genetic illness as Savannah, but more importantly to me at that time, to see if she could save her sister's life through a cord blood transplant.

As it turned out, she didnt have the same genetic fingerprint AND couldn't save Savannah through a transplant. At that time I didn't care if she too had the same genetic fingerprint and terminating was also offered to me before we even knew if she was healthy or not. I would never have considered it and was somewhat offended by the Dr's advice.

I overheard a funny conversation last week that put things in perspective and one that I will remember if I ever hear a mother say she is worried about NOT having a 'normal' child....or that the child HAS to be a boy OR a girl! That conversation went like this...

"Our daughter is finding out today if the baby is a boy or a girl and if it is healthy and 'normal.'

The person who replied to this, whose daughter at 15 died from a brain tumor I might add, answered with....

"It doesn't matter if its a boy or a girl...only if that it's healthy. But then even if the babys not healthy, it won't matter, you'll love it anyway."

I smiled as I listened, from a mum who couldn't agree more. You love your babies no matter what. And you learn from these special kids too, they are such a gift! I wouldn't swap my time with Savannah and her special needs and heartache that it brought for anything.

Thanks for sharing your story Louise, it's very powerful.

with love
Diana x

So well written. I wish I could have read stories like yours when I was expecting. There is a site I have contributed to: www.prenatalpartnersforlife.org

I also had the false assurance of "normal" test results (level II ultrasound, not the amnio). And with my prior pregnancy, false alarm about the triple screen numbers. Do the doctors even know what they are doing? It appears that the testing is more to protect themselves than you or your baby. Just read about a couple being awarded $7M for the "wrongful birth" of a child with my own child's rare disability. Because they weren't counseled adequately.

Louise, thank you for baring your heart with this amazing story. So much to think about...

The whole concept of "perfection" is sobering. As parents living with children with disabilities, it seems like we grow into a larger definition of "perfection" than we otherwise might.

Disabilities don't taint our children's perfection. If anything, disabilities exercise the muscles of character to make them strong.

When we limit our idea of perfection to one based on outward abilities and appearances, we miss the deeper perfection of the heart and soul. Maybe it takes the experience of living in our shoes to see that? I'm sad for the doctor who can't see past the "burdens" a child and family faces to the beauty of the life that is that child, and the beauty of the love of his family.

Not only has your decision to bring Ben into the world blessed him, but look at how it has touched the lives of others! "Bloom" is such a perfect name for this blog...would you have had such an impact on other families were it not for Ben?

Thank you so much for sharing your story. When I became pregnant with my daughter through IVF we were strongly advised to have an amnio completed which we had refused. Our daughter was born with a rare genetic condition leaving her with severe global deveopmental delays. She is now 1 years old and we have been discussing if we should try for another child. We were again advised to have an amnio done, even though we know that we would not terminate the pregnancy. We were counselled that then at least it would give us time to prepare if we were to have another disabled child. I did not realize that an amnio does not test for any genetic abnormailites. I think it would be even more of a shock and harder to deal with if we were lulled into a false sense of security.

Louise,

thank you for sharing such a powerful and moving post. I hope many get to see it--especially medical professionals involved in prenatal decisions and care.

Do you know Barbara Rothman Katz's book Genetic Maps and Human Imaginations? If not it's worth looking at.

George

Hello GB's mom -- maybe you can do a guest blog for us sometime? It would be great to hear more about your granddaughter!

Great wisdom to share Diana!

It's amazing how our approach to problems can victimize or empower us.

It reminds me of things that doctors have said that have stripped me of my power and things they've said that have made me feel that I can handle what life has given me and grow from it.

It's all perspective, isn't it?

HI Kate -- thanks for your comment. I am sure the legal environment in the US creates added pressure for prenatal testing. I will check out the site you suggested. Cheers, Louise

Thank you Rose Marie. You're right about how 'warped' our culture's concept of perfection is. I love your idea that children with disabilities push us to see wholeness in a new way. If only "character" was seen as being a more important part of schooling and socialization. xo

Hello anonymous -- thanks for writing!

The testing has become more sophisticated since I was pregnant with my son 18 years ago! There are different molecular tests (FISH tests) that can be used to detect certain rare conditions. But you have to know that you are looking for such a condition (e.g. already having had a child with the disorder). It would be interesting for someone to update us on the state of genetic testing now --just what does an amnio cover, and what doesn't it.

I did a quick seearch and pulled this up: Amniocentesis does not detect all birth defects, but it can be used to detect the following conditions if the parents have a significant genetic risk:

Down syndrome
Sickle cell disease
Cystic fibrosis
Muscular dystrophy
Tay-Sachs and similar diseases
Amniocentesis can also detect certain neural tube defects (diseases where the brain and spinal column don't develop properly) such as spina bifida and anencephaly.

Another site says it can now identify hundreds of genetic conditions, but again, I'm not clear on the limits

I think too much money is spent on testing and not enough on ensuring quality of life for children with disabilities and their families. It would be interesting to know the "cost" of testing relative to the number of fetuses terminated. Perhaps every time a child is terminated, what is estimated as the cost savings should be directed to a fund for families living with disability. I know that's what one of our readers Barb Farlow has often suggested.

Hi George -- I don't know that book and will check it out!

Is 'perfectly abnormal' an optional answer, Louise? The experience you describe with the medical staff and the brochures really resonated with me. It's so hard to believe how much 'science' has taken away the fact that we are human beings filled with emotion and how easily communication could be fixed in the medical setting. Great, thoughtful post. Thanks for sharing it with us!

Louise,

I'll try to visit this post again when I have more time. Nonetheless, please allow me to take a few moments and share my thoughts.

This is well thought out piece which not only reflects the true character of BLOOM, but that of its author as well. May you forever continue to share your honesty, integrity, strength, love, brilliance, and compassion in every word. For, this story will help all those who read it.

Congratulations and thank you.

Yours truly,

Matt Kamaratakis

What a stirring post. Thank you so much for sharing

Having walked this path ourselves with our son Jeremiah (Trisomy 18, August 17 - September 7, 2002) and with my youngest daughter, Hannah, I now walk this road with my clients as a high risk doula. Thank you for bringing this issue into focus so clearly.

The lack of clear information around prenatal testing is something that I have long been frustrated by, and these issues were highlighted well. The only thing I would add is the lack of understanding many individuals have when they go to an ultrasound. Most of us see ultrasound as a chance to 'see our baby' while it is still in the womb. We want to know that our baby is 'okay', but we don't think about the corollary - that we could find out that something is *not* okay.

I really think that we need to push for much more accurate informed consent procedures for the prenatal period. No matter which decision an individual will choose to make, no one should go in to have "routine bloodwork" or ultrasound without understanding the pandora's box of decisions they are potentially putting themselves into.

I won't speak to the limits of amniocentesis testing, but will say that the basic karyotyping (counting up the number of chromosomes) will show any full trisomic or monosomic state, and should also show up most partial trisomies or monosomies. The most common of these conditions is Down's Syndrome (Trisomy 21) and the second most common is Edward's Syndrome (Trisomy 18).

Heather Morgan