Down’s syndrome: more of an identity than a disease?
How a mother taught me more about Down’s syndrome than any lecture
When I talked to Hayley about her daughter Natty’s diagnosis for Down’s syndrome, as part of a teaching opportunity, she was quick to correct me. “Think of Down’s syndrome as being ‘identified’ rather than being ‘diagnosed,’” she advised. “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, 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, and management than any human experience of the condition. I would have found it easier to recall that 90% of Down’s syndrome pregnancies end in termination than to give the name of someone I had met with the condition.
Hayley knows that the medical profession has a lot to learn about Down’s syndrome. When Natty was born, clinicians were in tears and apologised to her as if they were delivering “the most terrible news.” This had immediately given her the impression that Down’s syndrome was a disaster. “I imagined awful haircuts, dreadful clothes, large tongues poking out, people staring, and a quiet child in a corner,” she told me.
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 Natty was 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. Had she known the realities of Down’s syndrome, “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,” she recalls.
Hayley is grateful that she hadn’t discovered Natty’s condition during her pregnancy. She thinks that women who have positive tests for Down’s syndrome are often coerced into termination. She points to the experiences of several expectant mothers who have approached her to discuss the issue of whether to have an abortion once it is known their baby has Down’s syndrome. One had requested not to be asked about termination if the results of amniocentesis testing revealed that her unborn 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.
Some days after my conversation with Hayley, I read an interview in the Telegraph with the actor Sally Phillips. She regrets that nobody told her, when her son was born with the condition, that Down’s syndrome “is a good thing.” Today, Phillips 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.”
Immediately, I was reminded of what Hayley had told me. Our understanding of Down’s syndrome doesn’t just rest on facts and studies, but is influenced by public debate, prejudices, and personal values. How a doctor presents a condition can dramatically change how people view their most intimate relationships, down to the affection they feel towards their children. “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.
The next time I’m asked to summarise Down’s syndrome in a tutorial, it won’t be an abstract statistic about terminations 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.” A story of a girl who lives with Down’s syndrome, but who was not diagnosed with it.George Gillett, fourth year medical student
University of Oxford, UK
Competing interests: None declared.
Provenance and peer review: Not commissioned; not externally peer reviewed.
- The National Down Syndrome Cytogenetic Register for England and Wales. 2011 Annual Report. 2013. www.wolfson.qmul.ac.uk/files/pdf/NDSCRreport11.pdf.
- Phillips S. My son has Down’s syndrome—but I wouldn’t want to live in a world without it. Telegraph 2016. www.telegraph.co.uk/women/family/sally-phillips-my-son-has-downs-syndrome---but-i-wouldnt-want-to/.