There are days when having a child with Down syndrome can mean losing all hope of being an ordinary mother: a mother with run-of-the-mill concerns, a mother with run-of-the-mill routines. I know. I’ve had such days. I’ve also found that sharing these feelings with other mothers, even those who have a child with a disability, isn’t always easy―or straightforward. In part I believe my difficulty sharing my experience with other mothers is because the motherhood issues surrounding the birth of a child with Down syndrome are qualitatively different to those experienced by mothers who give birth to children with other disabilities―disabilities such as autism or cerebral palsy.

The mother who has a child with autism or cerebral palsy is usually viewed as a victim―as having had no choice―of life having dealt her a cruel blow. There are, after all, no prenatal tests that can currently pick up these defects. That she may not see herself as a victim, or her child as a victim, often goes unreported. Instead, in the eyes of the popular media, to give birth to a child with a disability is seen as a personal tragedy―a story of suffering and endurance. In other words, disability is to be avoided if at all possible, and women are expected to take advantage of the advances in reproductive medicine―to choose a genetically correct pregnancy―thus improving their lives and the lives of their offspring.

Within this context it is not surprising then that the mother of a child with Down syndrome is likely to be seen as having brought the suffering on herself; of having had choices―tests such as amniocentesis and CVS (chorionic villus sampling)―but of having failed to take control, failed to prevent the suffering of her child. But how informative are tests such as pre-implantation diagnosis, CVS or amniocentesis? How meaningful? More importantly, how safe is it to assume lives are being improved? Could it be, for example, that some lives are now harder rather than easier?

As one mother who has grappled with the issues surrounding prenatal testing and disability I would like to share with you our family’s experience and hopefully illuminate some of the more complex and troubling issues these technological advances have the capacity to create.

Fraser’s pregnancy

I fell pregnant with Fraser in 1995 at the age of thirty-seven. I was already the mother of a fifteen-month-old and, just as I had during his pregnancy, I took the routine maternal serum alpha-fetoprotein blood screen for chromosomal abnormalities at sixteen weeks. It showed I was at high risk of having a child with Down syndrome. However, as I’d had a similarly high-risk reading in my first pregnancy, I wasn’t particularly worried. The risk with Fraser appeared slightly higher, but other than knowing we would have to find time to see the
genetic counsellor again, I didn’t dwell on it.

As it happened, Christopher and I sat in the same office with the same counsellor and once again listened to the risks. “A normal foetus, as you both know, has 46 chromosomes in each cell. But given your high AFP reading, Fiona, there is a significant risk that instead of 46 there could be 47 chromosomes in each cell. Each cell could be carrying an extra copy of chromosome 21. And as you both know,” she continued her voice deepening, “Trisomy 21 is associated with mild to severe intellectual disability. It also increases the risk of childhood leukaemia, certain cardiac disorders and is associated with other genetic disorders such as Hirschsprung’s disease.”

We listened and just as we’d done the first time―decided to have a coffee in the hospital café.

This time, for some reason, the tone was different. This time we could feel the high-octane spiel, feel the pressure pound through our bodies, pulsate through our veins―we should take the test, we should take the test, we should take the test.

We were, were we not, intelligent, well-educated and responsible human beings? Surely we could understand the need to invade, the need to extract a sample of amniotic fluid? Surely there were no ‘ifs’ and ‘buts’ this time? Surely we realised we had been very lucky with our first pregnancy; surely we understood the need for certainty, for reliable and accurate information this time?

We did and we didn’t.

We knew, for example, that even if we ruled out the possibility of Down syndrome, there was no guarantee our baby would be normal. We’d done our research. We knew that of all the children born with an intellectual disability, only twenty five percent have a prenatally detectable chromosomal disorder such as Down syndrome. In other words, the majority of mothers who give birth to a child with an intellectual disability will have received perfectly normal, utterly reassuring amniocentesis results. They will have put themselves at risk and will have been rewarded with good results. They will have been expecting a baby they could cherish, a baby they could feel proud of―a baby they could love.

Our decision

Should we relent this time? Should we accept the professional advice? We talked and we talked. We knew if we agreed to the amniocentesis it would only rule out Down syndrome―or a less common chromosomal disorder such as Trisomy 18 or Trisomy 13. But little else. Four thousand other known birth defects would still remain.

Defects such as attention deficit disorder, cleft lip, cleft palate, clubfoot, congenital cardiac disorder, cystic fibrosis, epilepsy ... would not magically disappear by agreeing to the test. Neither would the possibility of giving birth to a child with autism or cerebral palsy. Or a child with vision, hearing or speech impairment. Neurological problems, skin problems or behavioural difficulties....

We were, however, strongly aware the drive to have a normal child was expected of us. That we were making our decision at a time when social and economic imperatives dictated that we should want the best. The best partner, the best career, the best house ... the best baby.

I had already agreed to a blood test and an ultrasound, so why not an amniocentesis? Why stop now? Why not proceed with a test most women over the age of thirty-five consider essential?

What was wrong with me?

Put simply, the test didn’t engage me. It seemed too specific. To focused. Plus there was also a far larger obstacle. I knew if I agreed to the test and the words ‘chromosomal disorder’ were to appear―a certain set of assumptions, an as yet unspoken trajectory would swiftly emerge. And I wasn’t sure I would be able to follow its course.
 
Beyond the test

I knew if the test results came back positive I would be expected to terminate immediately. To abort my affected foetus. The fact that I could find it difficult to fall pregnant again after the termination or that any future foetus may also be affected by a birth defect would make little difference. Out the four thousand known birth defects it would be considered imperative not to proceed with this particular one.

And following on from that logic it would be assumed the ‘how’, the business of termination would be of little importance to me given the perceived gravity of the situation. I would want to solve the problem by removing it. No matter what.

Before the procedure (as it would be referred to) the staff would want to reassure me, would want to comfort me―and in soothing voices tell me, “Yes. Yes, of course this procedure is in your best interests. You and your baby shouldn’t be made to suffer, not now or ever. You’re doing the right thing,” they would reassure me, “You are.” But what would be left unsaid would be the unavoidable realities of termination.

On the elected day, during what would be the twenty-second week of my pregnancy, I would have to consent to the induction of labour. Simultaneously, I would also be expected to consent to a foetal intra-cardiac injection of potassium chloride to ensure the delivery of a dead baby.

I would be advised to give birth to a dead baby because it would be considered better if I didn’t hear the baby cry. Better if I didn’t see the tiny creature breathe. Or try to breathe. The staff would also prefer I consent, would prefer I minimised everyone else’s distress. Then, after the event I would be left alone. Left alone to my own devices. Left alone with no baby.

I would be promised a tiny set of foot and handprints as a memento of my once vibrant pregnancy. And expected to be grateful, to be thankful, for the successful elimination of a pending disaster. But while I knew the staff would mean well, would believe they were doing the right thing for me, I knew it wasn’t the road for me. That I just couldn’t do it.

We spent considerably longer in the hospital café the second time. And even though we tried to keep things light, we were both subdued. Both tense. My risk of having a baby with Down syndrome had come back as 1:120. Yes it was slightly higher than my first pregnancy (1:150), but did it mean anything? Our conversation was full of bumps and long winding trails.

My sister’s experience of disability

Perhaps the prospect of having a child with Down syndrome didn’t terrify me because my sister had a disability. Not that we ever really referred to it as such; it was only ever Alison’s epilepsy. And although it was uncontrollable for most of her childhood, my mother tried to make her life as normal as possible. She was allowed to ride a bike, climb trees and swim. But it wasn’t easy for my mother because, even though she wanted my sister to live a normal life, there were no support services. Only a somewhat pessimistic neurologist.

No one made the link between my sister’s declining school performance and her epilepsy. That she would lose the thread of a conversation because of a brief petit mal, a brief moment when she wouldn’t know what was going on. Or that repeated grand mal seizures took away her capacity for abstract thought and made her more and more concrete in her thinking. But despite the lack of support, my mother worked long and hard to bring up a daughter who could hold down a full time job and live independently. She refused to let her use her epilepsy as an excuse.

So much so that even today I still find it difficult to say my sister had a disability. I didn’t grow up with the word and my sister herself rarely used it to describe herself. Not surprisingly, she went into the field herself, working at first as a residential worker in a special school for disabled children, and later as a rehabilitation counsellor for the Royal Blind Society.

Premature babies 

I couldn’t understand why a baby with Down syndrome was something to be avoided at all costs, while a baby who was born prematurely and likely to emerge from the labour-intensive incubator process with severe life-long disabilities was cherished, welcomed and saved no matter what the expense.

Other than being normal to begin with―where was the difference? Perhaps it was the possibility the premature baby might emerge unscathed. That hope remained. That there was a real possibility the intense and expensive process of saving the baby might not cause any damage.

Whereas with Down syndrome the damage was done. The damage was known. I don’t know. Perhaps even with Down syndrome I felt there could be hope. Hope that the child might only be mildly intellectually disabled. Might not experience any of the serious medical complications. And that new and innovative treatments would be discovered in their lifetime.

I just couldn’t accept the conventional wisdom. Couldn’t accept the need to test. And after approaching the decision from this angle, that angle and every other angle we could think of, we both felt there was little more to say. And returned to our genetic counsellor.

The pressure to conform

“Welcome back,” she smiled. “I’d like to introduce you to Dr M.” I nodded politely in the doctor’s direction while immediately trying to discern if Christopher felt as caught off guard as I did. “You’ll be pleased to know Dr M can perform the test today,” she informed us.

Dr M nodded and reached out to shake my hand. “It’s a bit of a squeeze,” she told me, “but I can fit you in at around four. And don’t worry,” she reassured me, “that’s what we’re here for.”

I was shocked the heavy artillery had been called in. The pressure to conform, the pressure to say ‘yes’ had been dramatically heightened by the presence of a doctor in the room. I could also sense the two women wanted to talk to me alone. That they wanted to talk woman-to-woman, that they thought if they could get me on my own I would agree, I would understand. That it must be the male who was the stumbling block. The problem. But I could also tell they were unsure; Christopher was after all a doctor, a member of the medical profession, one of them. Surely, they reasoned, surely he must understand why I must take the test.

I didn’t want to talk to them alone. In part, because I felt the decision was as much Christopher’s as it was mine. Perhaps a little more mine, but one I wanted to make together. And, much to their dismay, I declined both the talk and the amniocentesis.

“Well, if you change your mind, we’re here,” the counsellor reassured me.

I nodded and as I left I made a point of looking each woman in the eye while shaking her hand firmly. “Thank you, but no thank you,” I reassured them. I wanted the baby I’d felt kick. I wanted him or her no matter what.

After that day the whole issue pretty much faded, in part because soon after I developed a heart problem, a tachycardia and was fairly restricted in what I could do. I worried about the baby but more because of the medication I had to take rather than any genetic issue to do with its wellbeing.
 
END of Part 1

It is with grateful thanks to the author that we have permission to publish this article.

First Published M/C Journal, Vol. 11, No. 3 (2008) - 'able'

Fraser’s Story – Part 1

Copyright © Fiona Place 2008