I was afraid of my daughter’s diagnosis of Down’s syndrome. I had a lot to learn and more to unlearn | Family
WWe talk a lot about Down syndrome in our house. My youngest child Greta, now 5, was diagnosed with mosaic Down’s syndrome just before her second birthday. My partner and I answered many questions from his older brothers Jasper, 10, and Rory, 8. I explained to her that her vocabulary would probably increase and that if it didn’t, we would find other ways to make sure she could let us know what she wanted and how she felt.
Now Greta makes the request. At bedtime a few weeks ago the question came up, “What does Down syndrome mean?” “
“It means you have an additional ingredient,” I replied. “Not many people have this ingredient. It means you are amazing. She proudly shook her shoulders and snuggled up in her bed.
But in the days after her diagnosis, I would never have used the words “Down syndrome” and “astonishing” in the same sentence. Despite the happiness and good health of my little girl, and despite the joy she brought to our family, I was sure that the confirmation of her extra chromosomes would irrevocably change her life – and ours – for the worse. I had a lot to learn and even more to unlearn.
Over the past few years, people with Down’s syndrome and their families have provided me with an incredible education. Just like Greta herself. I’m no longer surprised by his tenacity, his willingness to persist in learning things that might come more easily to others. By the time of her second birthday, we were using laminated photos of Vegemite and peanut butter so she could easily indicate what she wanted on her toast. Months later, when she said her first two-word sentence “more strawberries”, I happily texted the whole family before heading straight to the supermarket for more supplies.
A few years later, I couldn’t have imagined the conversation I recently overheard between Rory and his friend. “Does your sister stop talking?” His friend asked. Rory replied, “When she’s sleeping.”
Thinking back to my fear at the time of Greta’s diagnosis, I wonder what it would have been like to learn her genetic makeup while I was pregnant.
There are around 400,000 pregnancies in Australia each year and a growing number of expectant parents are choosing non-invasive prenatal screening (NIPT). DPNI marketing materials tend to focus on the “relief” and “reassurance” that a low-chance screening result brings. But I was struck by the silence surrounding the 2-3% of NIPT results showing a high probability of a chromosomal difference.
In my role as host of a new podcast called One Screened Every Minute, I interviewed people who received high-chance NIPT results for a range of chromosomal differences, including Down syndrome. These stories are shared so that we can learn but not judge.
The interviews reveal the immense emotional labor involved in understanding and navigating the decision-making regarding whether to perform invasive diagnostic tests and, ultimately, whether to continue or terminate a desired pregnancy. While scientific advances give expectant parents an exact number of chromosomes, what this actually means for their unborn child is much less clear. In the search for answers, this void can be filled by fear and misinformation.
In ABC’s recent documentary The Upside, Obstetrician Professor Steve Robson was interviewed by Julia Hales. He said a huge problem for doctors is the fear of “missing” a diagnosis of Down’s syndrome and of being sued. When Hales asked Robson, “What do doctors know about life with Down syndrome?” he readily admitted: “Nowadays, many doctors do not have much experience. [with Down syndrome] and in many ways, they almost fall back on textbook descriptions.
A clinical environment in which doctors know little about life with Down syndrome – and fear litigation – is not conducive to informed decision making. But when expectant parents decide to terminate or continue a desired pregnancy, they need balanced and accurate information. Could the stakes be higher?
On the podcast, Dr Melody Menezes, chief genetic counselor and scientific director of Monash Ultrasound for Women, suggested concerns about potential litigation were blinded. “I’m still worried about that. . . someone could. . . interact with a person with Down’s syndrome at work or in the community and go back to a health professional and say, “You didn’t tell me this was what my child could have done”. You didn’t tell me that was what it could have been for them.
There are risks in leaving out the good things – what connoisseurs often call the “extraordinary banality” of living with Down syndrome. Menezes directs expectant parents to Down Syndrome Victoria for the opportunity to hear directly from people with Down syndrome and their families.
A request to subsidize the cost of NIPT through its inclusion in the Medicare benefits program was rejected in late 2019. Those who support the decision argue that there is a need to allow equity in access to health care. screening technology. Whether NIPT is subsidized or not, the ethical use of this technology relies on expecting parents to be given accurate and balanced information, as well as the time they need to make informed decisions, both before and after. a screening.
This is surely the minimum you should expect when you expect.
Elizabeth Callinan is the host and executive producer of One Screened Every Minute. The podcast is produced by Joel Supple and supported by the University of Melbourne, the Melbourne Disability Institute and the Vasudhara Foundation.
The Upside is available now on ABC iView.