Down’s Syndrome: from diagnosis to identity?

This article was originally published in Student BMJ, a magazine produced by the British Medical Journal for medical students. An online version can be found here.

Hayley, a young mother, is quick to correct me. “Think of Down’s Syndrome as being ‘identified’ rather than being ‘diagnosed’” she advises, “it carries with it the lack of ‘disease’”. Embarrassed and worried I’d caused offence, I was also intrigued by this new perspective. What was this world I’d entered into, where medical syndromes were no longer diagnosed?

Perhaps my slip-up was unsurprising. As a student, my only encounters with Down’s Syndrome had been in lecture theatres and textbooks. My revision notes featured more information about investigations, diagnosis & management than any human experience of the condition. If anyone had asked me, I would have found it easier to recall the statistic that 90% of Down’s Syndrome pregnancies end in termination than to give the name of anyone I had met with the condition.

I hadn’t told Hayley this, but she knew better than anyone that the medical profession had a lot to learn about Down’s Syndrome. When her daughter, Natty, had been born, clinicians were in tears as they gave Hayley the diagnosis. “It was as if they were delivering the most terrible news,” Hayley tells me, which instilled her with the impression that Down’s syndrome was a dreadful thing. “I imagined awful haircuts, dreadful clothes, large tongues poking out, people staring, cruel comments and a quiet child in a corner”.

Ten years later and the reality could not be more different. Hayley describes her daughter as “funny, bright and confident” – a girl who continues to surprise teachers with her talents.

But Hayley cannot change how she felt when her daughter had been born. She regrets how her experiences were shaped by doctors eager to diagnose a condition that she now understands better as an identity than a disease. If I’d known the realities of Down’s Syndrome back then, Hayley recalls, “I would have just loved our beautiful daughter for who she was and enjoyed her fleeting infancy for that precious time. Society stole that from me.”

Hayley is grateful that she hadn’t discovered Natty’s condition at an earlier stage in her pregnancy. “Screening comes with implications, if results are positive there is much evidence of coercion to terminate” she tells me, pointing to the experiences of a number of women who have approached her to discuss the issue. One had requested not to be asked about termination if test results suggested her baby had a high chance of having Down’s and ensured that her wish was documented in her medical notes. “I saw that, but I thought I’d ask you anyway” the consultant told her. Another couple were asked nine times if they were sure they wanted to continue the pregnancy. “I wouldn’t want a Down’s baby myself” was the advice offered by one doctor.

In Hayley’s situation, she’s unsure what the outcome would’ve been. “We’d have been a team of the blind leading the blind” she wonders.

Some days after my conversation with Hayley, I read an interview in the Telegraph with the actor Sally Phillips. She regrets that nobody had told her, when her son was born with the condition, that Down’s Syndrome “is a good thing”. Today, Philips believes that people with the condition are “specifically gifted relationally. People aren’t fascinated by the things people with Down’s Syndrome can do better: relate to people, be funny and be comfortable in their own bodies” she suggests.

Immediately, I was reminded of Hayley and the lessons her story had taught me. That our understanding of Down’s Syndrome doesn’t exist in an objective reality of facts, figures and studies but is exposed to the forces and pressures of public debate, prejudices and personal values. How a doctor presents a condition can immediately change how we view our most intimate relationships, down to the affection we feel towards our children. “I think the way the diagnosis was given cost me about two years of love” Hayley told me, in a frank admission of the inadvertent influence the medical profession had on her relationship with her daughter.

And so, the next time I’m asked to summarise Down’s Syndrome in a tutorial, it won’t be an abstract statistic about the number of Down’s Syndrome pregnancies which end in termination that I’ll be quoting. It’ll be Hayley and Natty’s story. The story of a girl who, her mother tells me, “makes us howl with laughter, holds our faces close, and tells us how much she loves us”. The story of a girl who lives with Down’s Syndrome, not of one who was diagnosed with it.


4 Comments Add yours

  1. Stella Rixon says:

    Lovely, thank you George….keep spreading the word! 😊


  2. Jessica E says:

    Can I just say how much I liked your piece about Downs Syndrome. Not only well written, but it really does challenge the medicalisation of children with disabilities and show how this deeply interferes with the ordinary, healthy relationships that needs to develop between parents and their children.


  3. noeolivr says:

    Great article; yet, it’s “Down” syndrome, not “Down’s syndrome.” Named after John Langdon Down. Credibility is much higher when you know more about what you’re talking about.


  4. Hoi Fei Kwok says:

    I went to medical school in the late 80’s and grew up in an era that disabled children were segregated or hidden. The things I knew about Down Syndrome were the statistics about half of them had congenital heart disease, some are born with tracheo-oesophageal fistula, and they have global developmental delay. All very negative. And then I had my son who was born with Down Syndrome. That was the beginning of a journey for me to learn what I did not learn in medical school about Down Syndrome. It has been such a positive experience. I wasn’t told in medical school that my son would be so funny and inquisitive. My son would love learning about the planets and the world and he knows the names of all the planets and dwarf planets. And I wasn’t told that people with Down Syndrome are not suffering and vast majority of them enjoy life. I am glad that people go into medical schools nowadays can learn more about Down Syndrome thanks to people like Hayley.


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