A mother holding a baby girl with Down’s Syndrome. Photo: JGI/Tom Grill
A mother holding a baby girl with Down’s Syndrome. Photo: JGI/Tom Grill

ParentsOctober 11, 2016

Are we sleepwalking into a world without Down Syndrome?

A mother holding a baby girl with Down’s Syndrome. Photo: JGI/Tom Grill
A mother holding a baby girl with Down’s Syndrome. Photo: JGI/Tom Grill

Many parents make the reasonable decision to terminate their pregnancy following an in utero diagnosis of Down Syndrome. But as more sophisticated tests make it easier and less risky to diagnose early, Tessa Prebble wonders whether we’ve really thought through the consequences.

When I found out I was pregnant, my GP immediately handed me a pamphlet about the 12 week ultrasound/blood draw combo that almost every expectant mother is given. The test uses a combination of that scan and blood results to determine your risk ratio for the presence of Down Syndrome, Edward’s Syndrome or Patau Syndrome (Trisomy 21, 18 or 13).

The scan looks at the baby’s physiology, including the nuchal fold at the back of the neck. When I went in for my own scan, I had no idea what the radiographer was looking for. She kept saying the word “nuchal” and how it was on the larger side of normal. “Normal” is anything up to 3.5mm. Eva’s nuchal fold was 3.51mm. I reassured myself that someone has to be on the upwards end of the scale, otherwise that scale wouldn’t exist.

My risk rate when my blood results came back in was 1:69. There was a one in 69 chance that my baby had one of these syndromes. That her nuchal fold was not just an anomaly, but a marker for something else.

An amniocentesis was ordered and as I drove to the appointment I thought about what decisions I would make if it came back showing that my child had Down Syndrome. I was fairly confident in that moment that I would terminate the pregnancy.

A mother holding a baby girl with Down Syndrome. Photo: JGI/Tom Grill
A baby girl with Down Syndrome. Photo: JGI/Tom Grill

But my results were clear. The nurse called me to tell me the amnio revealed a “healthy baby girl”. A decision on whether to follow through with the pregnancy never had to be made. While I can say now that who knows what decision I would have made if it actually came to it, I know that my initial instinct was to terminate.

When Eva was born, I actually longed for a diagnosis like Down Syndrome, because her issues and conditions seemed so much worse. She was born blind and deaf, with heart and brain abnormalities. She had low tone and couldn’t feed orally. There was a high chance she would never walk or talk. Down Syndrome, with its more public presence, seemed like a lighter load in comparison. The syndrome my daughter was diagnosed with was CHARGE Syndrome. They don’t test for it in utero.

There is a test being talked about in the UK called non-invasive prenatal testing (NIPT) which uses the mother’s blood to test that of the foetus. It has a 99% accuracy rate, and essentially means that instead of having to weigh the risks of an amnio, which carry a 1% chance of miscarriage, a simple blood test could tell you if your child has one of the Trisomy-based syndromes. It has been recommended that the test be made available on the National Health Service (NHS), the equivalent of New Zealand’s public health, meaning it would be free to expectant mothers. At present, mothers in the UK are offered the same combination of scans and blood tests that we have here in NZ.

If that test had existed in NZ when I was pregnant, yes I would have got it. Testing for these syndromes seemed like a forgone conclusion. Why wouldn’t you test when we have the ability to know?

Doctors and midwives schedule you for your 12 week scan and 20 week scan without even asking if you want it. If you read the small print on the pamphlet these tests are optional, but when I was pregnant it didn’t feel like that. They felt standard and essential and to refuse them felt reckless and irresponsible. Foolhardy. Flying in the face of science and medicine.

Sally Phillips (best known for her role as Shazza in the Bridget Jones movies) didn’t discover her 12 year old son, Olly, had Down Syndrome until he was 10 days old. She recently authored a BBC documentary, A World Without Down’s Syndrome, inspired by the rates of termination that tests like the NIPT can and have caused. In the documentary Phillips visits Iceland, where the introduction of the test has resulted in 100% of Down Syndrome pregnancies being terminated.

Phillips argues, convincingly, that with tests like these, and the attitude held by society about special needs, we are sleepwalking our way into eliminating Down Syndrome from the world. And this would be a detrimental and tragic thing.

She told The Guardian that if she had known about her son having Down Syndrome she would have continued with the pregnancy, but that it worries her that the assumption is that she wouldn’t.

“In a system where everybody screens and where you know at 10 or 12 weeks with 99% certainty whether your unborn baby has Down Syndrome, it becomes ‘your fault’ if you choose to have the baby. We have imperceptibly flipped into a situation where the woman is under societal pressure to have that termination. Where does it lead? If you choose to have that child, should the government help you? After all, it was your choice. Why should anyone else help you?

“We are really close to that attitude already. There is already a new kind of pernicious discrimination towards disabled people, the idea that they are scroungers. ‘Why should you steal my taxes?’ Who, then, would want to have that child?”

This is a concern I share with Phillips. I have argued multiple times that if families were given the support they needed then life with a child with special needs would not be seen as something to be avoided. If finding out Eva was blind and deaf and might never walk didn’t have me envisioning a lifetime as her carer with no hope for her ever living an independent life of her own, maybe it wouldn’t have been such a grieving process for me.

If I knew that she would be taken care of, by me and by the government; that her education wouldn’t have to be fought for tooth and nail; that there would be a home for her when she was ready to leave my home where she would be supported by carers to live her own life; that she would be accepted into the community as a valued member of society, not a suck on resources and taxes, then maybe I would not have felt her diagnosis as such a blow. Maybe I would not have seen her issues as a burden to begin with, but as something natural and part of the spectrum of human life.

But if having a child like Eva, or like Olly, was something we all had a choice in, would it be “our choice” to forgo any support if we then followed through with the pregnancy? Or at least, is that what society would think?

A French boy with Down Syndrome spending a day undergoing tests for a research programme. (Photo: BSIP/UIG via Getty Images)
A French boy with Down Syndrome spending a day undergoing tests for a research programme. (Photo: BSIP/UIG via Getty Images)

Phillips is right to raise concerns, not just with the test itself, but with the medical assumption that a positive result of a syndrome will be met with termination. This assumption comes from a frame of reference where anything outside what is considered “normal” is bad.

Before I had Eva, my own frame of reference had me believing that to have an intellectual or physical disability was something which prevented quality of life. I was so sure of my ignorant position on this that I would have told myself I was doing the right thing by terminating a pregnancy if I knew the baby had a major issue or “abnormality”. I put value in intellect and higher education, the ability to follow your passions and achieve goals, the ability to give back to the community in a financial sense.

The truth is my frame of reference has shifted dramatically. The amount of change Eva managed to cause in those around her, me in particular, shows me how little importance some of my earlier notions of quality of life actually were.

My attitudes changed; the way I see the world changed. But it changed because of Eva. So I cannot blame people who still see the world as I did. I cannot blame the parents who decide to terminate their pregnancy due to Down Syndrome, because I see the world they are making that decision in. My frame of reference was tipped on its head because my daughter showed me what really mattered, and how narrow my view of quality of life and fulfillment actually were. But not everyone has access to that frame-shattering insight. Not everyone has an Eva in their life to show them what else is possible. Not everyone knows the power of realising that there is no “normal” and life is meant to be varied and different.

A woman’s right to choose is something I still strongly defend. I am pro choice, even if my own situation has changed in regards to how I see disability and special needs. I defend the rights of women to make a decision on their pregnancy, with or without a diagnosis like Down Syndrome.

I’m not arguing that termination is not okay, or that termination for these reasons is not okay. I want to look at why Down Syndrome and other conditions are seen as so negatively that in Iceland not a single Down Syndrome pregnancy has been brought to term.

Photo: Maskot via Getty Images
Photo: Maskot via Getty Images

While I am with Phillips on so much of what she says about life with a child with special needs, it’s worth pointing out that she paints a rather simplified picture of the situation. She talks about the positive sides of parenting a child with Down Syndrome, and there are many, but she doesn’t address her own privilege in this situation. Phillips herself has the resources and financial stability to weather this. Her situation means Olly’s diagnosis didn’t mean financial ruin for her or her family. She could afford to provide education and medical support for her son even if the public system didn’t fulfill its part.

Not all parents are in that situation, and it’s cruel to guilt individual parents who make a decision to terminate based on their own situation and ability to care for a child with extra needs. It’s cruel and unhelpful to insist that the fault lies in the individual parents themselves, when it’s obvious that it lies in a society that puts the bulk of the financial burden on parents, instead of helping them so that going through with a pregnancy like this doesn’t need to mean risking so much.

We are looking at this whole situation backward. There is nothing wrong with Down Syndrome, or the people who have it. There is something wrong with the rest of us. Instead of ensuring that children born with conditions like Down Syndrome, or in my daughter’s case, CHARGE Syndrome, are supported in every aspect, we make it so hard on families that terminating seems like the best possible option.

And while I dislike the philosophical fallacy of the slippery slope, it’s hard not to see how a test like NIPT and the resulting encouraging noises of the medical profession to end these pregnancies, could lead anywhere positive for other genetic anomalies.

I cringe to say eugenics, but can it be called anything else when we are eradicating whole groups of the population based on our own frames of reference around what is a good life? Life is complicated and messy and there are so many elements we cannot control. When did we decide that it was okay to play god with genetics and decide which elements weren’t okay? If we tumble on down this slippery slope, what will come next? It’s awfully difficult for many people in this world, because of the limitations and prejudices placed on them by others. Are we really saying that instead of addressing those prejudices and making life easier for them, the answer is instead to stop those people existing?

When we see inequalities and prejudices in other areas do we just try to erase the problem? Of course not. Instead, we get angry and demand justice. We don’t ignore the problem, or accept the situation as it stands. So why are we suggesting it with Down Syndrome? Why are we putting parents in a position where the results of the NIPT test automatically make many couples lean towards termination, because they know having this child will mean a lifetime of struggle and fighting for their child’s rights?

Of course there will be love. Love so boundless you will not know what hit you. But any parent of a child with special needs will tell you that this is not an easy life, and that that love enables you to have strength and resilience you didn’t know existed.

And if we do succeed in eliminating Down Syndrome in certain countries, where will our frame of reference shift to? My position before my daughter was born came from a place of ignorance. I had never had much experience with special needs and for me that world was one of speculation and assumptions. Being put face to face with this life is how I have changed. This life challenged all my assumptions and showed me how wrong I was.

A father and his daughter, who has Down's Syndrome. Photo: Getty Images
Photo: Getty Images

If we eliminate whole groups, the chances for these face to face encounters will diminish. More people will stay ignorant and disability and special needs will be further relegated to the basement of our consciousness. Our attitudes will entrench and deepen. Our lack of familiarity will breed further intolerance and ignorance, until they find a way to test for the next genetic marker. In this world, those who do have a disability or syndrome of some kind will be further isolated. The communities that used to exist will dwindle, leaving those families alone in their fight for their children.

It may sound like I’m describing the setting of some dystopian thriller, a 21st century remake of Gattaca, something so grey and futuristic that it’s easy to ignore and pass off as a hysterical ‘what-if’. But the reality is that there are countries that are eliminating Down Syndrome right now. Not in the future. Now. And for those of us who have had our frames of reference shifted by our own amazing children and the children of those close to us, we are trying desperately to shift all of yours before we lose something precious.

Eva may never have contributed to the great cog-movements of capitalism, or got a degree from university, she may never have become mayor of Wellington or even paid taxes, but in her short 10 months in this world she made more impact and change to more people than many able-bodied, sighted, hearing people. Her life had purpose and meaning, despite the genetic markers inside her that may have lead me to terminate her life if I had known they were there.

Tessa Prebble is the writer/producer/creator behind The One in a Million Baby. Her podcast began in September 2015 and features interviews with different families living with special and medically fragile kids. It aims to tell the stories of those families so that those who are going through something similar can feel less alone, and those not in their shoes can learn about their lives. Follow the podcast through iTunes, Stitcher Radio or her blog. You can find Tessa on Facebook and Twitter.

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