For new parents Lucy and Roberto, awaiting the birth of their first child should have been a time of celebration, but with negativity surrounding a suspected Down Syndrome diagnosis, their prenatal experience was tainted with fear and uncertainty. 

The expectant parents learned that their daughter would be born with Down Syndrome after a prenatal screening showed a high likelihood of Trisomy 21 (T21) – which was then confirmed with an amniocentesis. In light of the news, Lucy and Roberto were introduced to a genetic counsellor to discuss the diagnosis and the couple were left distraught by the interaction that followed. 

“The only way to describe the discussions that occurred after the diagnosis is sad, depressing, and as though it was the most terrible outcome possible,” Lucy recalls. “There was no congratulations, the staff just apologised. I remember thinking, my baby isn’t dying, why is everyone so sorry?” 

“The genetic counsellor told us that our baby would likely have a moderate intellectual disability and went on to describe some of the physical features of Trisomy 21, such as small ears and stature. It all felt like a warning,” Lucy says. “We didn’t find any of the information useful, quite the opposite, so we stopped taking her phone calls from that moment. We wish she could see our beautiful, smart, and thriving daughter now.”

Until eventually changing hospitals, their early experiences with medical professionals continued to be negative. At the 20-week scan, Lucy and Roberto saw an obstetrician who said she had noted some suspected abnormalities in the heart, and due to amniotic fluid building up, there was a good chance their baby’s heart could stop at any moment. 

Lucy recalls the conversation: “The obstetrician, in the most insensitive tone possible, asked if we wanted to terminate. We were so confused as all of the scans had been fine up until this point. I was an absolute mess and my partner Roberto was furious. He frustratingly asked the obstetrician if she had anything positive to say, but she just stared blankly at us. We got up and left the room.”

A week later, and now at a new hospital for a second opinion, it was clear to the medical team how distressed Lucy and Roberto were. Fortunately, they were able to put the soon-to-be parents’ minds at ease, explaining after careful review that their baby’s heart would in fact not stop due to the build up of amniotic fluid. Their unborn child did have a minor intestinal obstruction which would require surgery after birth, but everything else relating to the pregnancy was normal. 

Knowing their baby was safe, the couple could finally begin to relax, but the traumatising experience negatively impacted the whole family. “She was safe,” Lucy recalls. “I could finally breathe and stop worrying that I might lose my baby at any moment. But it was a dark time for my family. Our parents and siblings were also deeply traumatised by what we consider an unprofessional experience.” 

When Down Syndrome is suspected, Lucy and Roberto would like to see medical professionals involved in early care better equipped with up-to-date information, as well as a referral for each family to Down Syndrome New South Wales (DSNSW)

Connecting with DSNSW was a turning point for Lucy and Roberto. They were visited by staff with a shared lived experience, who were able to pass on positive and encouraging messages about their own children’s achievements. With the right advice and information now at hand, the soon-to-be parents found comfort and support in the Down Syndrome community.  

Established in 1980 by parents of children with Down Syndrome, DSNSW is a peak body designed to support families throughout their unique journey. The organisation also runs educational workshops and training for health professionals, employers, and disability service providers. 

During the early days of their pregnancy, Lucy and Roberto attended fortnightly ‘New Parent’ sessions and a key signs course hosted by DSNSW, and since welcoming their daughter, the couple are still an active part of the community. 

“Knowing DSNSW is just a phone call away was, and still is, incredibly helpful and we are so thankful for such a supportive and proactive organisation,” Lucy says. “We’ve already learned so much and met some great people.” 

“It’s wonderful that there are so many educational sessions available to us, we now feel positive about Amelia’s future,” she continues. “To know that DSNSW and so many inspiring people are advocating for our loved ones really means the world to us.”

Today, the couple are focusing on making new memories with plans to visit Roberto’s family in Sardinia, Italy, to celebrate their daughter’s first birthday – a date Amelia and her mother Lucy sweetly share.

“I’m so grateful for every day that I get to spend with Amelia,” Lucy says. “I just can’t get enough of her, I even miss her when she sleeps – she brings us so much joy. I can’t wait to be beside her as she grows, develops new skills, and learns all about the world around her.” 

“We call Amelia our little superstar, and have no doubt she is going to be amazing in whatever path she takes in life,” Lucy continues. “She has enriched our lives beyond belief and we are so proud that she is our daughter.”

Down Syndrome is a genetic condition caused by an extra chromosome. It is naturally occurring and every person’s experience is different. In Australia, approximately 290 babies are born with Down Syndrome every year and up to 90% of pregnancies with the genetic condition are reportedly terminated. 

DSNSW is on a mission to debunk common misconceptions about Down Syndrome. According to the organisation, people with Down Syndrome now have a life expectancy of 60 plus years, compared to just 25 years in the 1980s. In 2023 alone, DSNSW supported over 5,000 parents, siblings, and carers alongside 3,724 people living with Down Syndrome. With the right support and encouragement, many people with Down Syndrome can go to school, find meaningful employment, have fulfilling relationships, and live independently. 

Emily Caska, CEO of DSNSW, and her team have supported thousands of families who experienced a similar situation with medical professionals as Lucy and Roberto. Caska stresses that Australia’s termination rate is disproportionate to the quality of life people with Down Syndrome have and recently fronted the NSW Birth Trauma Inquiry, established in June 2023, to support parents working through trauma as a result of their prenatal experiences. 

“This is about making sure families have the basic right to make an informed choice with no judgement and no pressure to choose one way or another,” Caska says. “It’s about respect for families facing an unknown and challenging decision.”

For families who have received a Down Syndrome diagnosis, Lucy shares her advice with The Inarra. “Don’t research everything on Google, jump on Instagram instead and start following other families’ journeys. This will give you a glimpse of your beautiful adventure ahead,” she says.

“If something doesn’t feel right, ask for a second opinion or reach out to someone in the T21 community,” Lucy adds. “And don’t compare your child to others. Your children will reach milestones at their own pace, and it will be even more special when they do.” 

DSNSW also runs training courses for medical professionals to help combat negative, often traumatising, experiences after a diagnosis. Lucy and Roberto hope that sharing their story will empower families and give them confidence for the exciting future ahead. 

“T21 will not stop people from living a beautiful and fulfilling life. With the right support, they can go to a mainstream school, attend college, find a job, and live independently,” Lucy says. “Our loved ones are incredibly resilient and can overcome health challenges. To health professionals, I’d like to say, start the conversation with expectant parents with a smile, and make sure the first thing you say is congratulations, not sorry. Every new baby deserves to be celebrated.”

This Mother’s Day Down Syndrome NSW are asking people to consider buying their own mum a virtual gift, and stand in solidarity with mum’s and their families who have had or are expecting a baby with Down Syndrome. All money raised will fund Down Syndrome NSW initiatives, specially designed to ensure mum and baby have the best start in their journey together. To purchase a virtual gift or make a donation visit https://www.downsyndromensw.org.au/get-involved/mothers-day

Visit Down Syndrome New South Wales for further support and information

Words by Danielle Fowler | Photography by Jez Smith