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 – 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.
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 parentally 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.
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. Too 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 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 that 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 that 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 as 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.
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 well being.
Despite my heart condition the birth went well. And I was able to labour naturally with little intervention. I knew however, that all was not right. My first glimmer of recognition happened as I was giving birth to Fraser. He didn't push against me, he didn't thrust apart the walls of my birth canal, didn’t cause me to feel as though I was about to splinter. He was soft and floppy. Yet while I can tell you I knew something was wrong, knew instinctively – at another level I didn't have a clue. So I waited. Waited for his Apgar score. Waited to hear what the standard assessment of newborn viability would reveal. How the individual scores for activity (muscle tone), pulse (heart rate), grimace (reflex response), appearance (colour) and respiration (breathing) would add up. I knew the purpose of the Apgar test was to determine quickly whether or not Fraser needed immediate medical care – with scores below 3 generally regarded as critically low, 4 to 6 fairly low, and over 7 generally normal. Fraser scored 8 immediately after birth and 9 five minutes later. His markers of viability were fine.
However all was not fine and within minutes he received a tentative diagnosis – whispers and murmurs placing a virtual sticker on his forehead. Whispers and murmurs immediately setting him apart from the normal neonate. Whispers and murmurs of concern. He was not a baby they wanted anything to do with – an experience they wanted anything to do with. In a very matter of fact voice the midwife asked me if I had had an amniocentesis. I said no, and thankfully because I was still feeling the effects of the gas, the bluntness and insensitivity of her question didn't hit me. To tell the truth it didn't hit me until years later. At the time it registered as a negative and intrusive question – certainly not the sort you want to be answering moments after giving birth – in the midst of a time that should be about the celebration of a new life. And while I can remember how much I disliked the tenor of her voice, disliked the objectifying of my son, I too had already begun a process of defining, of recognising.
I had already noted he was floppy and too red. But I guess the real moment of recognition came when he was handed to me and as a way of making conversation I suggested to Christopher our baby had downsy little eyes. At the time Christopher didn’t respond. And I remember feeling slightly miffed. But it wasn’t until years later that I realised his silence had been not because he hadn’t wanted to chat but because at that moment he’d let his dread, fear and sadness of what I was suggesting go straight over my head. Unconsciously though – even then – I knew my son had Down syndrome, but I couldn't take it in, couldn't feel my way there, I needed time. But time is rarely an option in hospital and the paediatrician (who we knew from the birth of our first son) was paged immediately.
Disability and the Medical Paradigm
From the perspective of the medical staff I was holding a neonate who was displaying some of the 50 signs and symptoms suggestive of Trisomy 21. Of Down syndrome. I too could see them as I remembered bits and pieces from my 1970s nursing text Whaley and Wong. Remembered a list that now seems so de-personalised, so harsh and objectifying.
- Flat face
- Small head
- Flat bridge of the nose
- Smaller than normal, low-set nose
- Small mouth, causing the tongue to stick out and look unusually large
- Upward slanting eyes
- Extra folds of skin at the inside corner of each eye
- Rounded cheeks
- Small, misshapened ears
- Small, wide hands
- A deep crease across the center of each palm
- A malformed fifth finger
- A wide space between the big and second toes
- Unusual creases on the soles of the feet
- Overly-flexible joints (as in people who are double-jointed)
- Shorter than normal height
Christopher and I awaited the arrival of the paediatrician without the benefits of privacy, only able to guess at what the other was thinking. We only had the briefest of moments alone when they transferred me to my room and Christopher was able to tell me that the staff thought our son had what I had blurted out. I remember being totally devastated and searching his face, trying to gauge how he felt. But there was no time for us to talk because as soon as he had uttered the words Down syndrome the paediatrician entered the room and it was immediately apparent he perceived our birth outcome a disaster. You’re both professionals he said, you both know what we are thinking. But he couldn’t bring himself to say the words, say Down syndrome, and instead went on about the need for chromosomal testing and the likelihood of a positive result. The gist, the message about our son was that while he would walk, might even talk, he would never cook, never understand danger and never live independently, never, never, never...
Fraser was only an hour or so old and he’d already been judged, already been found wanting.
Creating Fraser’s Cultural Identity
The staff wanted me to accept his diagnosis and prognosis. I on the other hand wanted to de-medicalise the way in which his existence was being shaped. I didn’t want to know right then and there about the disability services to which I would be entitled, the possible medical complications I might face. And in a small attempt to create a different kind of space, a social space that could afford my son an identity that wasn’t focused on his genetic make-up, I requested it not be assumed by the staff that he had Down syndrome until the results of the blood tests were known – knowing full well they wouldn’t be available until after I’d left hospital.
Over the next few days Fraser had to spend some time in the neonatal intensive care unit because of an unrelated medical problem. His initial redness turning out to be a symptom of polycythemia (too many red blood cells). And in many ways this helped me to become his mother – to concentrate on looking after him in the same way you would any sick baby. Yet while I was deeply confident I was also deeply ashamed. Deeply ashamed I had given birth to a baby with a flaw, a defect. And processing the emotions was made doubly difficult because I felt many people thought I should have had prenatal testing – that it was my choice to have Fraser and therefore my fault, my problem. Fortunately however these feelings of dejection were equally matched by a passionate belief he belonged in our family, and that if he could belong and be included in our lives then there was no reason why he couldn’t be included in the lives of others.
How Prenatal Testing Shapes Our Lives
It is now twelve years since I gave birth to Fraser yet even today talking about our lives can still mean having to talk about the test – having to explain why I didn’t agree to an amniocentesis. Usually this is fairly straightforward, and fairly painless, but not always. Women have and still do openly challenge my decision. Why didn’t I take control? Aren’t I a feminist? What sort of a message do I think I am sending to younger women? Initially, I wasn’t able to fathom how anyone could perceive the issue as being so simple – take test, no Down syndrome. And it wasn’t until I saw the film Gattaca in 1997 that I began to understand how it could seem such a straightforward issue.
Gattaca explores a world in which genetic discrimination has been taken to its logical conclusion – a world in which babies are screened at birth and labeled as either valids or in-valids according to their DNA status.
Valids have every opportunity open to them while in-valids can only do menial work. It is a culture in which pre-implantation screening and prenatal testing are considered givens. Essential. And to challenge such discrimination foolish – however in the film the main character Vincent does just that and despite his in-valid status and its inherent obstacles he achieves his dream of becoming an astronaut.
The film is essentially a thriller – Vincent at all times at risk of his true DNA status being revealed. The fear and loathing of imperfection is palpable. For me the tone of the film was a revelation and for the first time I could see my decision through the eyes of others. Feel the shock and horror of what must appear an irrational and irresponsible decision. Understand how if I am not either religious or anti-abortion – my objection must seem all the more strange. The film made it clear to me that if you don’t question the genes as destiny paradigm, the disability as suffering paradigm then you probably won’t think to question the prenatal tests are routine and essential paradigm. That you will simply accept the conventional medical wisdom – that certain genetic configurations are not only avoidable, but best avoided. Paradoxically, this understanding has made mothering Fraser, including Fraser easier and more enjoyable. Because I understand the grounds on which he was to have been excluded and how out of tune I am with the conventional thinking surrounding pregnancy and disability – I am so much freer to mother and to feel proud of my son.
I Would Like to Share with You What Fraser Can Do
- get dressed (as long as the clothes are already turned the right side out and have no buttons!)
- understand most of what mum and dad say
- play with his brothers on the computer
- make a cup of coffee for mum
- fasten his own seatbelt
- wait in the car line with his brothers
- swim in the surf and catch waves on his boogie board
- compete in the school swimming carnival
- draw for hours at a time (you can see his art if you click here)
- is the first child with Down syndrome to attend his school
- loves the Simpsons, Futurama and Star Wars
- begs mum or dad to take him to the DVD store on the weekends
- loves sausages, Coke and salmon rissotto
- enjoys life
- is always in the now
| Having fun with Photo Booth||His brothers Aidan and Harrison|
Brotherly Love – a photo taken by Persia (right) and exhibited in Local Eyes. It also appeared in The Fitz Files (Sun-Herald 30 Mar. 2008)
What Excites Me Today as a Mother
I love that there is now hope. That there is not just hope of a new test, a reliable non-invasive prenatal test, but hope regarding novel treatments – of medications that may assist children with Down syndrome with speech and memory. And an increasingly vocal minority who want to talk about how including children in mainstream schools enhances their development, how children with Down syndrome can, can, can … like Persia and Tyler for example.
That perhaps in the not too distant future there will be a change in the way Down syndrome is perceived – that if Fraser can, if our family can – then perhaps mothering a child with Down syndrome will be considered culturally acceptable. That the nexus between genetics and destiny will be weakened in the sense of needing to choose one foetus over another, but strengthened by using genetic understandings to enhance and assist the lives of all individuals no matter what their genetic make-up. And perhaps one day Down syndrome will be considered a condition with which you can conceive. Can imagine. Can live. And not an experience to be avoided at all costs.