What seems like an eternity ago I spent a morning on the phone to one of those rare breeds of journalist. One with absolute integrity. One who simply 'gets it'.
Please read the result.
We talked about Down's syndrome, bloggers, life, our families, and the ethics that surround antenatal screening We chatted about the need for full, unbiased support for prospective parents if they choose to take it.
We shared emails, articles and a few TedX talks over the coming weeks. The article Olivia Gordon was penning was for The Guardian Weekend Magazine, a publication I often buy. It promised to be a full and balanced view. Weeks passed, it was pencilled in for many dates that came and went. I began to worry if it would never appear.
But the wait was worth it. Please read probably the most import article we have ever been privileged to take part in - He's Perfect:
It was a cold February Sunday on a busy maternity ward when Caroline White found out her baby had Down’s syndrome. Seb, Caroline’s first child, had been born the day before, swollen and blue. He wouldn’t latch on. He slept and slept, and although no one had mentioned anything, Caroline had a nagging feeling something wasn’t right.
That Sunday, while she and her husband, Simon, were sitting quietly with Seb, reading messages of congratulation, a midwife came to her bed, saying, “I’ve got a few concerns.” Caroline and Simon then waited two hours for a junior paediatrician. “He said, ‘There are a few things which could mean Seb has a chromosomal abnormality,’” Caroline recalls. “I had no idea what that meant.” Later that evening, while Seb slept beside her, she read what the doctor had written in Seb’s notes and typed the phrases into Google: “mild hypotonia” and “flat features”. Up came page after page about Down’s syndrome.
At her antenatal screening, Caroline had been given a one in 700 chance of her baby having Down’s. She had no previous experience of disability. “I was guilty of assuming everyone with Down’s was the same,” she says now. That night in hospital, she felt “petrified; this was my worst nightmare. I felt sick, my face was hot.” She cried quietly so the other three mothers in the bay wouldn’t hear. “I didn’t want to be different.”
For a few days, Caroline clung to a hope that the doctors were wrong. When the consultant delivered the formal diagnosis, she remembers, “Seb was looking beautiful, asleep in his car seat, wrapped up in a white polar bear suit that I’d excitedly bought a few weeks before. I couldn’t believe it. The paediatrician ended the meeting by handing over some leaflets that made my stomach turn.” When they got home, the house was bursting with presents and cards and balloons. “I hated it,” Caroline says, “because it was so perfect, just how I’d pictured having my first baby. Except for one thing.”
As she talks, her three children – Seb, now seven, Dominic, five, and Polly, two – are playing on the floor of her living room. Seb and Polly are often in cahoots, Caroline says, while Dominic is quieter. Dominic and Polly don’t know there’s anything different about their brother (although Dominic did mention recently that Seb “speaks funny”).
Now, she says, she would give anything to have those precious early weeks back to enjoy. “When Seb was born, I assumed a lifetime of exclusion, feeling sad and second rate; I dreaded the future.” Then, one day in the garden when Seb was four months old, he started to smile and Caroline saw his character for the first time. “That was the first good day. After a while I realised he’s not a list of characteristics in a textbook; he’s my child. He’s everything I wanted my son to be.”
Caroline writes a popular blog called Force Of Nature, about life with Seb, including his modelling for companies such as Marks & Spencer and JoJo Maman Bébé, and the various campaigns they have been involved with to raise awareness of issues around Down’s. She is concerned about the way the condition is stigmatised. “Had I been told when I was pregnant, I would have trusted the people in the white coats and terminated,” she says. “That’s what people do. Now I can’t believe I’d have thought that. “I’m pro-choice, but it needs to be informed choice. People need to be aware of what it means to have Down’s in the 21st century.”
Down’s was first identified by the Cornish physician Dr John Langdon Down in the 1860s, although it wasn’t until the 1970s that the condition became known as Down’s syndrome. Today’s parents can remember a time when the word “mongol” was used and people with Down’s were institutionalised. “People didn’t think [those with Down’s] could develop and learn,” says the writer Renate Lindeman, who has three children, two with Down’s syndrome, and is founder of the blog Down Pride. In 1959, a scientist called Jérôme Lejeune discovered that Down’s was caused by an extra chromosome. Antenatal screening for Down’s began in the 1970s, and in the 1980s blood tests were developed to predict expectant mothers’ chances of having a baby with Down’s. In 1983, life expectancy for a person with Down’s syndrome was 25 years; now, people can live into their 60s.
Karen Gaffney speaking at a TEDx talk. Photograph: Sean Danaher/TedxPortland
“The doctor predicted that I would be lucky to be able to tie my own shoes or write my own name,” says Karen Gaffney, from Oregon, a woman in her 40s who has Down’s syndrome. She also has a science degree, an honorary doctorate, and is a champion swimmer who has crossed the Channel in a team relay event. In May, Gaffney gave a TEDx talk called All Lives Matter, in which she explained why she was wary of the race to “find newer, faster ways to test for Down’s syndrome before birth”. Gaffney, who is part of a growing Down’s pride movement, described how families and grassroots campaigners have, over the past 40 years, “opened the doors” for a new generation of people with Down’s to have an education and become valued employees, accomplished artists and sportspeople: “Dr Lejeune devoted his life to finding ways to improve the lives of those of us born with the extra chromosome. It was never his intention to have his discoveries lead to the tests that would prevent our lives.”
Currently, in England and Wales, 90% of babies diagnosed antenatally with Down’s are aborted. Under NHS guidelines, pregnant women are offered a screening test at 12 weeks, including a nuchal translucency measurement (calculating the amount of fluid under the skin at the back of a baby’s neck) and a blood test. The results of these are combined with the mother’s age to work out a ratio – the chance of the baby having a genetic condition, including Down’s syndrome. If the ratio is found to be high (more than one in 150), a mother can opt to have an invasive test, CVS or amniocentesis, both of which carry a small risk of miscarriage.
But since July the NHS has been in consultation on a new, simple blood test – noninvasive prenatal testing (NIPT) – which measures foetal DNA in the mother’s blood as early as 10 weeks and has a 98%-plus accuracy rate for detecting Trisomy 21, or Down’s syndrome. It is currently available privately, at a cost of between £400 and £900. If offered on the NHS, it could reduce the risk of miscarriage that comes with invasive testing. Amniocentesis would still be necessary to confirm a diagnosis, but because of the test’s accuracy, fewer women would be offered invasive testing. Some would choose not to follow with an invasive test if they intended to continue with the pregnancy anyway.
The National Screening Committee has been analysing a trial study of 2,500 women offered NIPT to screen for Down’s at Great Ormond Street hospital (Gosh), and a final decision is expected next month. Meanwhile, many campaigners are concerned that introducing the new test might increase the number of Trisomy 21 abortions. Professor Lyn Chitty, who led the Gosh study, accepts that this could be the case, since more cases of Down’s syndrome would be detected. “This new testing offers all sorts of possibilities in the future, and we need to be very careful about what we do,” Chitty says. “The main issues we face now are the ethical and moral ones.”
For Renate Lindeman’s Down Pride group, which is actively campaigning against NIPT, the question is simple: just because we can now screen for Down’s so easily, should we?
I’ll never forget my own 12-week scan. My first child’s nuchal translucency measurement was 3.01mm, a sign, I was told, that he could have Down’s syndrome. For a few days, I lost myself on Google and found a world of pregnant women panicking about their numbers. Most of those with high ratios were having invasive tests and, after anxious posts, would return to broadcast their relief: “Everything’s normal, thank God.” Seeing how frightened other pregnant women were of Down’s, it was hard not to be frightened, too.
In the end, my son turned out to have a different condition and, through support groups, we’ve met many families whose children have Down’s. I have been plunged into another world – a world where parents are deeply offended by the way society screens for these conditions, by the official language of “risk”, by the very naming of NIPT tests (Tranquility, Harmony).
Christie Hoos, from Canada, vividly remembers the day she got an email informing her that a photograph of her 10-year-old daughter Becca, who has Down’s, had been taken from her blog and used by Swiss biomedical company Genoma to promote its NIPT Down’s test, Tranquility. Becca was diagnosed with leukaemia last year, and Christie was with her at a paediatric oncology clinic when she picked up the email on her phone, from a fellow parent, telling her that Becca’s picture had been used in an ad campaign in Spain, as well as on Genoma’s website. Christie later blogged: “My daughter has been made the poster child for a prenatal testing kit called Tranquility. As if she were a cautionary tale: don’t let this happen to you… While my girl courageously fights for her life, this company questions whether she has a life worth living. How dare they?”
She says now, “Prenatal testing will always be a hot-button topic for parents like us. Let’s be honest, with a 90-95% termination rate, parental preparedness is not the primary goal of these tests. I find it morally reprehensible.”
Christie’s blogpost went viral, and the images of Becca were withdrawn. Genoma said they had downloaded the picture from a stock image website and made an “honest mistake”. They published a response insisting that the goal of Tranquility is “to reduce the number of invasive interventions which pose a risk to the foetus. Any other considerations are beyond our scope.”
Could the current NHS consultation be a tipping point, a chance for pharmaceutical companies and the medical profession to rethink how Down’s is presented to expectant parents? Tom Bachofner, a graphic designer from Cheshire and father of three, describes the moment when his youngest child, Rosie, now four, was diagnosed antenatally as a “very negative experience”. He and his wife, Karen, were given a one in 12 chance of Down’s at screening, and got the diagnosis after an amniocentesis. “We were in shock,” he says, but “we discussed it for about a minute and luckily we both felt the same: we were prepared for a daunting road and we weren’t frightened.” Having made their decision, they were hoping someone would hold their hands and tell them where to go from there, but it wasn’t like that. “We were met with blank looks from the midwife and consultant, as if they weren’t expecting that decision. The midwife went off a bit red-faced and came back 10 minutes later. I was expecting a pack of information, but it was a ripped piece of notepaper with a website address scribbled on it.”
This reaction continued throughout the pregnancy. “At the end of what felt like every consultation, there was always that, ‘Anyway, if you do change your mind at any time, the option of the abortion is still there.’ Even as late as 30-odd weeks, we were being given that option. I didn’t like it. This was our child.”
Tom blogs at thefuturesrosie.combecause he wants other parents to know “there’s nothing to be frightened of. Rosie’s given so much love to our family. She is different, but we’re all different. I get nervous about her future, but about my sons’ futures, too.” He adds: “We don’t judge people who have an abortion, but I’d very much like people to know that there are an awful lot of positives to be had.”
Tina Carr and Dean Burgess, a full-time mother and engineer in their early 30s who live in Cheltenham, have just had their fourth child. When it was confirmed, following a 12-week scan and then an amniocentesis at 16 weeks, that their baby had Down’s syndrome, Tina describes it as a “relief – an end to all this uncertainty”. But the midwife didn’t see it that way. “She said, ‘It’s not good news’ and, ‘I’m so sorry.’ I said to her, ‘It’s absolutely fine, don’t worry.’ She said, ‘It’s not fine, though, is it?’” The midwife told her that, in the previous year, only two people she had seen had carried on with their pregnancies after the diagnosis. “People clearly don’t feel supported from the outset. There must be so many people who are unsure and not given any information. All we were given was a phone number.”
Tina and Dean are the first pregnant couple to feature in the Lose The Label campaign on Facebook, run by Michelle Clark from Cambridgeshire, whose daughter Mara is three and has Down’s syndrome. Lose The Label publishes photographs of children with Down’s and, starting with Tina and Dean, expectant parents, too. The campaign, which began in 2013, went global with its third image, and Clark is now sent as many as 50 photos a day (she currently has 2,000 queueing to be published).
Her next target is the updating of information on Down’s across the internet, because as things stand, she says, “Why would people not fear it?” Similarly, the Down’s Syndrome Association’s Tell It Right, Start It Right campaign aims to educate health professionals about how best to advise families.
Lindeman says the ultimate goal of her parents’ group is an end to all screening for Down’s. She argues that the focus on Down’s over all other conditions is illogical and “out of proportion. Why Down’s syndrome?” If there was an equivalent test for learning disabilities – antenatal screening for autism, say – would we be comfortable offering it routinely? “Maybe in 100 years we won’t see any children with conditions like this,” adds Hayley Goleniowska, writer of the blog Downs Side Up. “It’s sugar-coated eugenics. What are we trying to get rid of?”
Goleniowska, from Cornwall, used to be a teacher, but Downs Side Up, which gets 35,000 hits a month, has become a full-time job. Mother of Mia, 11, and Natty, eight, who has Down’s, she has advised the NHS and government, and is now a point of contact for parents all over the world. “You think you’re writing into a void, but along will come an email from someone on a maternity ward, saying, ‘My baby’s next to me, I’ve just had a diagnosis and I’ve found your blog – thank you, thank you, thank you.’ Or someone says, ‘I’ve decided to keep my baby after seeing Natty.’ And then I think, I’ve got to keep going.”
Goleniowska and her husband, Bob, who works in the music industry, had “shrugged off” a one in 297 chance of their baby having Down’s, and the diagnosis was made shortly after Natty’s birth. There was talk of some leaflets, a poem comparing having a child with a disability to holidaying in Holland instead of Italy, and the comment that “some of them even go to a mainstream school”. Goleniowska says she “wanted to scream”.
Now a passionate campaigner, Goleniowska helps match learning-disability nurses with midwives to get the best information to parents at the point of diagnosis. She would like Down’s to be reclassified as a mild-to-moderate learning disability, not, as it is now, a “severe handicap”.
The Antenatal Results and Choices charity (Arc) sees things differently. “This may be controversial, but Down’s syndrome isn’t an insignificant condition,” says its director, Jane Fisher. Arc offers nondirective information to parents before, during and after antenatal screening, she says. Fisher supports women’s right to terminate babies with Down’s even after 24 weeks, and strongly disagrees that women are influenced to terminate. “There’s sometimes a tendency from those who have children with Down’s syndrome to believe that women are making ill-informed decisions when they choose to end the pregnancy, that they’re pushed into it based on out-of-date information, or that they’re making a selfish decision because they want the perfect baby – that they’re not prepared to put the extra work in – and we would categorically counter that. It’s an informed decision. It’s difficult enough to make that decision without having it vilified.”
Emma, a 44-year-old exercise teacher, and her partner, James, 43, ended a pregnancy last year after a private NIPT Harmony test, done at 11 weeks, showed their child had Down’s syndrome and two heart problems that would mean surgery immediately after birth. It was the couple’s first baby, after a previous early miscarriage.
“We’re both older, my family are all older and have their own children to look after, and James works away a lot,” Emma says. “I didn’t feel there was anyone for me to lean on, and if something happened to me or James, it would be the worst quality of life for our child and ourselves.”
Emma remembers an NHS testing midwife who spoke to her soon after taking the Harmony test about what Down’s syndrome might involve. “She made it clear there was a spectrum, from a child who can grow up, function and live alone to a child who is possibly violent, incontinent and unable to communicate. That was quite a shock, and I just wasn’t willing to do that. I was so scared and, knowing there were heart troubles as well, it made it easier to come to that decision [to terminate].”
The couple had a CVS as a formality, to confirm the diagnosis, then Emma “gave birth” to the baby, a girl, at 15 weeks and four days. “I knew I would be sad, but… I was sobbing. It was horrendous. I thought I knew what grief was like, but I didn’t. It takes over your life.” Emma doesn’t feel as if she was led into her decision. “The midwife was trying to allow us to have the facts and it was eye-opening.”
She says she still feels raw with grief, and James “will not utter a word about what happened”. Emma says, “If someone asks me, I’ll tell them what happened and why I did it – I did what’s right for me. It’s unbelievably sensitive and no one should push their opinions on other people. I feel I’m up for extreme scrutiny and judgment, yet those people haven’t been in my shoes.” The couple are trying for another baby, and Emma says she still thinks about her daughter all the time.
The reality is, parents are criticised whichever path they choose. Jane Fisher of Arc says that for women who speak up about terminating a Down’s pregnancy, “the vitriol and hate mail are mind-boggling”. Meanwhile, in the comments following one article about Hayley Goleniowska’s daughter’s modelling, someone suggested she would be better off dead. You don’t get hardened to such comments, Goleniowska says. “I have to go offline and cry.”
Yet she believes there is progress, noting that Down’s terminations have fallen slightly from 92% between 1989 and 2010 to 90% since 2011, and that now, “in many cases, there’s good practice medically”. She tells a story she recently heard of how one consultant handed over a newborn baby with Down’s and said to the mother, “He’s perfect.” “It gave me goosebumps to hear that.”
Olivia Gordon
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