Is this the beginning of the end for Down syndrome?

Nicholas Love. Photo: Russell Shakespeare Source: The Courier-Mail

Annie Love and Nicholas. Photo: Russell Shakespeare. Source: The Courier-Mail

Photo: Russell Shakespeare Source: The Courier-Mail

Prenatal testing for Downs gives parents choice
5.3 per cent of pregnancies with Downs are continued
Most women want risk-free testing

IT rained the day they got the news. Big, pelting drops, as if some screenwriter well-versed in melodrama was dictating the scene. Annie Love couldn't take the call.

She'd been going "slowly nuts" waiting for diagnosis day to arrive and was only just holding herself together. Her husband, Ben, answered the phone. He nodded. Then he mouthed the words. "It's positive. Baby has Downs."

They cried. Huge, heaving sobs to rival the rain. In the days and weeks that followed, they'd pull themselves together, then lose it all over again. And they grieved. This was not the picture they had of their family.

This baby was meant to be "normal" just like Sam, then 3, and Charlie, then 2. Now the view had changed, fuelled
by stereotypes: an overweight kid with a bad haircut being teased, a life on the fringes.

But they'd already decided – after many heart-wrenching talks in the preceding four weeks between suspicious scan and confirming amniocentesis – that they would have the baby. If he had Down syndrome, they'd paint a new picture.

So they prepared. Grief gave way to a readiness and a joy. Everyone close to them knew their baby would be born with Down syndrome. Now it was time to get on with it. They wrote a birth plan. No-one in that delivery room was to be negative. This was their baby and they were happy. He arrived at 2.55am on March 20, 2012. Nicholas Fenton Angus Love, 3.8kg, 52cm long.

And here he sits on the floor right now, goo-gah-gurgling as he plays with his toy with gusto. Plump, healthy, with a knockout grin. And "chromosomally enhanced", as his mother likes to say.

As she looks at Nicholas playing at their home in Gordon Park, on Brisbane's northside, it's hard for Annie, a Catholic, to admit she considered abortion. So did Ben. "From a relationship perspective it was probably one of the hardest things we've ever had to go through," says Annie.

That the Loves decided to have Nicholas after the amniocentesis confirmed Down syndrome makes them a rarity. Most don't. Only 5.3 per cent of pregnancies where there is a prenatal diagnosis of Down syndrome are continued. This figure comes from a respected Victorian study, the only (now-defunct) research in Australia that followed the link from prenatal diagnosis to live births of babies with Down syndrome.

Released in 2008 and based on figures from 1986 to 2004, the study was co-authored by associate professor Jane Halliday, a public health genetics expert with Melbourne-based Murdoch Children's Research Institute. "The vast majority, 95 per cent, were terminated," she says.

It's similar across the Western world. About 90 per cent of foetuses with a diagnosis of Down syndrome are terminated in New Zealand, about 92 per cent in the US, about 93 per cent in the UK.

Now, a new element in the vexed issue of Down syndrome and reproductive choice is entering the fray. From this year, non-invasive prenatal testing is available in Australia. The existing invasive methods of diagnosis – amniocentesis and chorionic villus sampling (CVS) – are taken up by about six per cent of pregnant women, generally after an abnormal scan.

They carry the risk of miscarriage – the main reason women do not seek the test. But the new blood tests, although prohibitive at a cost of up to $2000, do not pose such risks.

Which raises the very real question: Is this the beginning of the end for Down syndrome?

As he wandered the corridors of Earlswood Asylum for Idiots in Dickensian England, John Langdon Haydon Down mused about how some of those under his care had the physical characteristics of Ethiopians, some Malay. And some looked Mongolian.

The medical superintendent sat down and penned a 1260-word article entitled "Observations on an Ethnic Classification of Idiots". Of the "Mongolian idiots", Down's 1866 report said: "The face is flat and broad … The eyes are obliquely placed … They are humorous."

By all accounts, Down was a liberal thinker, but his choice of descriptor would hound those he analysed for more than a century. Mongolism and Mongoloid became accepted terminology, often shortened to "mong". Words like idiot, imbecile and subnormal also were used. The Nazis killed them; the US sterilised them. We hid them away in institutions until the 1970s.

Only in the 1960s did lobbying by scientists – and Mongolian leaders – lead to the condition being called Down's syndrome, now Down syndrome. Sensitivities about terminology remain. Support groups such as Down Syndrome Association of Queensland insist their members are not Down syndrome people (and certainly not sufferers or victims) but people with Down syndrome.

Medical parlance about the "risk" of a baby having Down syndrome is frowned upon. Chance is preferred. And they are not, despite popular belief, always happy; they experience the range of human emotions.

It may seem like pedantry, but when future generations of the people you know and love are coming under the microscope – or ultrasound – and being aborted, hypervigilance by the Down syndrome community is understandable.

Down syndrome in the modern day is a study in changing social values and choice. It's about the fight by people with Down syndrome to be truly included – and valued – in a society that proclaims a respect for diversity, and the fight by women to choose their own reproductive journey and have access to safe abortion. It's about science: the science that discovered in 1958 that Down syndrome was caused by an extra copy (or part copy) of chromosome 21, the constantly evolving science that tells us, pre-birth, if a foetus has a chromosomal anomaly. And it's about how the hard fought for, deeply personal reproductive choices of women (and their partners) are having a collective effect on the number of babies being born with Down syndrome.

When Michael Cox burst into the world 21 years ago with Down syndrome, today's level of prenatal analysis was not part of the medical model. Diagnostic amniocentesis for women of advanced maternal age, when the chance of having a child with Down syndrome increases markedly – women aged 25 have a one in 1383 chance of a child with Down syndrome, while at 40 the chance is one in 84 – had been around since the '70s. But mum Nikki was 34 when Michael was conceived, and it was not suggested. Nikki and husband Simon were told then that the number of babies born with the condition was 1 in 600. Today, the figure is 1 in 1150.

"Big shift," says Simon as he sits on the couch at the family's Jindalee home in Brisbane's western suburbs, flanked by Michael and daughter Bekki, 23, and son Andy, 20. "Particularly given that people are having their babies later." (Another big shift is the life expectancy of those with Down syndrome. In the 1950s it was 15, now it approaches 60.)

As Michael has been growing up, diagnostic tests have improved while screening or scans (less precise, giving an indication of birth anomalies) have become commonplace among all childbearing age brackets. Second trimester maternal serum screening arrived in the mid-1990s and first trimester combined screening in the early 2000s. The combined test involves the ultrasound – which produces that black and white fuzzy photo of a baby in formation – that many women and their partners now look forward to enthusiastically. But for some, it comes with a mind-numbing result they had not bargained for.

"There was no pressure on us for the choice we didn't make," Simon says. "But now there must be. It puts huge pressure on young people to have the test and then to make a decision about the results of the test, and then to live with that consequence." Brisbane-based clinical genetic specialist Michael Gattas agrees that, "rightly or wrongly", screening has become normalised and "if you were a woman who was pregnant who didn't do [the first trimester scan], probably you'd be seen as being abnormal in some way".

Screening can produce false positives but the new generation, non-invasive diagnostic tests– to rival the slightly risky and highly accurate amniocentesis and CVS – boast a 99-plus per cent accuracy. Martin Delatycki, the director of clinical genetics at Austin Health in Melbourne, and Ma spokesperson for the Human Genetics Society of Australasia, says women want risk-free testing.

"It's a cost issue at the moment … but I am absolutely certain that will disappear and testing will become cheaper," Delatycki says. He says while "we are seeing a decline in the number of babies [with Down syndrome] born because of screening in pregnancy", it will not disappear because some people will reject testing on religious grounds or personal beliefs, or because of poor access to doctors. Those people and their children must be supported. But, he says, the debate has been had.

"This is something society has discussed over many years and the conclusion that society as
a whole has made is that it is acceptable to women and couples to have the choice to find out if their baby has Down syndrome or many other conditions and to make a decision whether or not to continue the pregnancy," Delatycki says. "It is a significant minority who disagree with that and think it unethical to do so but overall, society has made that decision."

The Coxes wonder how much people really know about Down syndrome. Simon calls it a "so-what" disability. "For Michael, it's just the beat of the world is just a little bit too quick," says Simon. Michael has a number of factors on his side. He is "high-functioning", escaped the heart conditions that about 50 per cent of people with Down syndrome need to manage by surgery or medication, and comes from a secure, middle-class family. He attended a mix of mainstream and special schooling, catches a bus (but will never drive), makes his own lunch, and is a lifesaver at the local pool. He loves fashion and likes to dance: "Dancing's one of my absolute favourite things to do," Michael says. "I love hip hop, breakdancing."

And he's an Australian representative swimmer, having competed in Down syndrome championships in Italy, Portugal and Taiwan. He's the Australian backstroke champ, but prefers freestyle, and hopes to make the team bound for Mexico City next year. He's blitzed all his parents' expectations. When Nikki learned of Michael's condition, she worried he wouldn't speak. "He can talk the leg off an iron pot," she says, laughing. And Simon admits to disappointment that his son would never play rugby for Australia. "I remember feeling terrible driving to work one day and thinking, it's an absolute tragedy that my son won't have that opportunity," Simon says. "Well, he's the only one [of five children] who has represented Australia."

The Coxes know many people see Down syndrome through old stereotypes – a fully dependent child with poor social graces, clinging to the hand of a carer. Simon says they should come along to some Down syndrome swimming championships. "If you see Mike's swimming team out in Italy, all wearing casual clothes, happy, you do a double-take before you work out they've got a disability." He says you can see a split in attitudes between older parents of people with Down syndrome – who have a memory of institutionalisation and segregation – and younger parents who encourage their children to be more outgoing. Michael often goes out to pubs with Andy, who says "more people respect it than target it".

Generation Y Bekki lends weight to a belief held by DSAQ executive officer, Louise Lloyd, that because people with Down syndrome have been integrated into the school system and other social outlets, upcoming generations of parents will be less concerned about bringing a baby with Down syndrome into the world.

"It's not something I see as debilitating; I don't see it as a disability, because Michael's so capable," Bekki says. "There is no way I would ever abort a child based on a disability." She looks across at her brother, who she admits to protecting from bullying in the schoolyard, and smiles. "I mean, he swims internationally; that's something I will never achieve in my life."

Proud mum Nikki says Michael is an inspiration. "It would be really very sad to see that go, there's a loss of general compassion in the world, of slowing down, trying to think in different ways. If we try to make everybody
the same, we're going to lose something very basically, fundamentally important in humans."

Sean Fisher, with father Terry, mother Lisa and younger brother Declan. Source: news.com.au

One word came out of Lisa Bridle's mouth as she came to after an emergency caesarean and heard the doctor say her son had Down syndrome. Fear, loss, shame washed through her and she screamed: "No!"

Eighteen years on, she cries as she admits to being upset with husband Terry Fisher for telling his workmates they'd chosen the name Sean Patrick. In those dark early days, she wished they'd kept that quiet so the carefully chosen name could go to a "proper" baby.

"That feels like such a shameful admission," the bravely honest Bridle says now, wiping away the tears. "To think that you could be so rejecting of your own child." Sean's the young adult in the suit on a noticeboard above us, the one whose picture graces the 18th birthday invitation Bridle hands me later. "He's pretty delightful," says the mother from Dutton Park, in Brisbane's inner south.

When Sean was born, Bridle was 30, a social worker and already a mother to Milly, then 2. (Declan, now 11, came later.) Bridle thought she was broadminded, not one to discriminate. "It was a big wake-up call to say, 'Actually, I have all these prejudices that I would never have owned up to'," says Bridle. "And that's one of my strongest feelings about prenatal testing; we think our culture is a whole lot more tolerant of diversity than it is and people think they're making choices in a fair and balanced way. Because of my own reactions, I absolutely get that people go into a panic."

But Sean was here, he was sick and she was his mother. Maternal instinct kicked in. By the time Sean was one, his health battles were over. There have been other skirmishes, and Bridle is not one to sugarcoat the fact that a parent of a child with Down syndrome needs to be a strong advocate for their needs and rights. "No matter how much we love and value Sean, we know he has been and will continue to be rejected by some," says Bridle.

Bridle's own delivery room reaction haunted her and spearheaded her decision to do a PhD in bioethics and prenatal testing. She spoke with 17 mothers of children with Down syndrome. They were devastated at first, thought their lives were over. Now, they found those ideas foolish. Their children had brought them joy and were more capable than they'd expected. Mothers found previously untapped strengths and were more adventurous than before. Many came to accept that life was full of uncertainties and parenthood was one of its biggest gambles.

"There's a lot that can happen to your child when you become a parent and you can't protect them or yourself from all of the possibilities," Bridle says. The idea that prenatal diagnosis and a "normal" result would somehow "future-proof" a child intrigued Bridle. Most disabilities are acquired, she says.

Bridle accepts that advances in prenatal diagnosis are not pushed by "crazy scientists" working in a vacuum. "There's a demand and people want it." People like Nicholas's mother, Annie Love, who thought she'd never have an amniocentesis – until her suspicious scan. "We were going a bit insane from not knowing; I felt it would allow us to prepare either way," Love says. She has mixed feelings, though, about the ease with which mothers will be able to get a diagnosis in future through non-invasive testing, and so does Bridle. Will seeking a diagnosis – and taking action on the result – involve a less rigorous decision-making process when the risk of miscarriage is gone?

And, says Bridle, if mothers want prenatal diagnosis, so do governments. It helps the bottom line. Every woman who makes the choice to terminate a foetus with Down syndrome saves the government money, according to a range of cost-benefit studies. Bridle's thesis quotes a 1993 report by renowned Australian geneticist Grant Sutherland that put the figure at a saving of $1 million per child.

Bridle included counter-arguments, too, such as that from British emeritus professor Sue Buckley, of the University of Portsmouth, who asked: "Do we look at ordinary babies at birth and calculate potential costs of accidents, unemployment, prison, addiction or chronic illness?"

Some see sinister motivations behind prenatal testing. In New Zealand, an organisation called Saving Downs has taken its government's prenatal screening program to the International Criminal Court, saying it is persecutory. It considers prenatal testing a form of eugenics, the bio-social philosophy associated with, but pre-existing, Nazism, that espouses breeding out "inferior" humans. Geneticist Halliday dismisses the eugenics argument as "far-fetched" because "people make all sorts of choices in life and this is just another choice. It's not politically motivated at all, which is what eugenics was about, reforming a population."

Bridle holds judgement on master race theories but does wonder where our compulsion to learn about – and control – what is going on in the womb will stop. Scientists are working on prenatal tests to pick up markers for autism, a multi-spectrumed condition which can be heartbreaking but also produces some great minds. Will they work out how to identify those with a genetic predisposition to addictive behaviour? What then?

Brody Logan, 5. Source: news.com.au

The refrains of "I'm a little teapot" coming from Brodie Logan's iPad are starting to get a bit too loud. Mum Angela suggests the five-year-old turn it down. Brodie shoots her a look as if to say 'Party pooper!' and keeps the volume where it is. On the second request, Brodie considers her options and turns it down. Yep, just like most five-year-olds.

Angela smiles at her daughter's chutzpah and continues reeling off Brodie's achievements. "She's writing her own name. She can count well into her teens. She loves to learn, she loves to be with other kids and be involved and play. She packs her lunch [for a mainstream school], wants to help cook dinner. She's independent, fiercely so."

That's not the picture that was painted for Angela and husband Ben, of Ipswich, when Brodie – their first, followed by Harvey, 3, and Sammie, 18 months – was born with Down syndrome. Angela says while the medical care at a major Brisbane hospital was top-class (Brodie needed a heart operation at 11 weeks), she was shocked by the "overwhelmingly negative" advice from medical staff and social workers about life with Down syndrome. The then 26-year-old was told Ben would leave her, friends would drop away and "basically my life was over". She insists one midwife said to her: "You know you don't have to take her, you can leave her and just go."

If such attitudes are expressed to mothers once they've had a child with Down syndrome, asks Angela, what are pregnant mothers with a positive diagnosis told? "That sort of negative bombardment takes its toll," she says. Lisa Bridle found in her Down syndrome research that a number of pregnant women were given very dark assessments of their future and that of their child. One woman told Bridle she was encouraged to terminate her pregnancy the same afternoon of her diagnosis. Geneticist Jane Halliday strongly denies the medical world is more inclined to suggest termination of a foetus with Down syndrome.

Angela's not convinced. She says advice about the positives of a life with a child with Down syndrome has to be as available and promoted as the drawbacks. Raising a child with a disability "is not a life for everybody". But with the advent of prenatal non-invasive diagnosis, it's more important than ever to show that raising a child with Down syndrome is "not all doom and gloom".

"This test is here, it's a fact, but the education has to come along with it," she says. "Because those negative things are so powerful, it's so emotional and so raw that you could make a knee-jerk decision that you can't take back."

So here is Angela Logan's assessment of life with Brodie: "My life isn't ruined; if anything, it's expanded," says Angela, who has returned to university to study social work. "I couldn't give you a bad thing. That's completely honest. There's stress, it can be frustrating, but parenthood gives you that. Brodie's determination, everything she is and she stands for, she's worked for and I think she's just amazing. I will fight tooth and nail to clear a path for her. She's one of the best things that ever happened in my life because she changed my life. And I would like people to know that."

This story originally appeared in QWeekend Magazine. Get it every Sunday in The Courier Mail.