"You have a decision to make."
Those were the first words Stephanie's obstetrician said to her and her husband after they had just sat down in the doctor's surgery.
"We looked at him and asked, 'What are you talking about?' Stephanie Rodden told Mamamia, recalling that her doctor hadn't even uttered the words hello yet.
"Your baby’s got a high chance of Trisomy 21... Down syndrome," he said.
For Stephanie, who thought she was simply having a routine 12-week scan, the diagnosis came as a complete surprise.
"My husband and I were glancing at one another and I was thinking to myself, 'What's Down syndrome? Who do I know with Down syndrome?'"
Stephanie, 47, and her husband were given a timeline of how many weeks they had to make a decision if they wanted to terminate. Her doctor also suggested an amniocentesis, a medical procedure used to test for Down syndrome or other chromosome conditions which "may slightly increase the overall risk of miscarriage".
Stephanie, who had conceived her son through IVF, refused to take the risk and knew right then and there sitting in the doctor's surgery she was going to keep her baby.
"I knew straight away that we were going to keep him, there was no doubt in my mind and it didn't matter about having diagnostic testing because whatever the outcome was, we were going to be proceeding with the pregnancy."
But while her mind was made up, she was still trying to process the news.
"We walked out of the [doctor’s] room and I burst into tears in the reception."
"I remember sitting in the car with my husband afterwards and we were just crying and we were like, it's going to be okay, we'll get some help, we'll find other people."
But the pair, who were already parents to a son, walked out of the appointment without receiving any support, aside from a mention of Down Syndrome NSW and a number for a psychologist who didn’t end up providing help.
Turning to family and friends, they got a mixed reaction.
"We had people say we were going to be ‘wonderful parents, don’t worry’… and other’s who begged us to terminate and said ‘what about your other son? What about him, you’re going to ruin his life'… we were told some pretty horrible things."
One person even told her that "the news was worse than their own baby dying in their arms".
"Everything seems to be like you're fighting to defend your child," she explained.
Without the support from other mums in similar situations, Stephanie said the pregnancy was a "lonely journey".
"I would wake up in the middle of the night like I couldn't breathe, worried sick for the future of my child."
But when their son, Lincoln, arrived in 2017, everything changed.
"I tell you as soon as I laid eyes on him when he was born, I had this massive sigh of relief. I felt like I could breathe again, and once he was here, I was like, thank god… because we were told so many times he probably wouldn't make it because he has a heart condition as well. So it was just a big sigh of relief."
Lincoln is now a happy, active four-year-old, who loves reading and teasing his older bother.
The lack of support Stephanie received later inspired her to found her own organisation, Celebrate T21, and more recently, launch a book to support other families who receive a diagnosis.
"The decision that I made was to take action, take action against the way that I felt I had been wrongly delivered a diagnosis, the way that I felt that other families could be impacted upon when receiving a diagnosis."
The book, which includes photographs and stories of more than 180 Australian families with Down syndrome, will be gifted to families receiving a diagnosis, and also provided to medical practitioners for them to share with parents at the point of diagnosis, as well as other places like hospitals and schools.
"We've had so many families that said they were given really dire outdated statistics and facts [at the point of diagnosis and then left to sort of pick up the pieces."
"The book for us is just being able to provide families with a balanced view of what life is like living with somebody with Down syndrome.... and give families that reassurance that if nothing else, there is support for them and they don't have to feel on their own."
Ultimately, it's about rewriting the narrative of Down syndrome, Stephanie says.
"It changes the narrative around 'I'm so sorry, your child's not going to be able to this' or 'we'll book you in for amnio' or going straight to 'would you like to have a termination?', without providing that opportunity for further discussion or for insight to be able to talk to other families."
It’s a book she said would have made a big difference when she received her son's diagnosis.
"All I wanted was to see faces, quotes from other people and understand a little bit more about things. And when you look at the book, you see the journey from pregnancy up to adulthood and we see the diversity of different mixes of families and different dynamics between siblings."
"All this love is exuded and raw truths from some of the families, and it’s complemented with the beautiful images.”
Aside from her book, Stephanie said she would like to see families given more access to support at the point of diagnosis.
"I think the support is what's really important to parents. It’s hard to go alone on this journey and to not be connected with Down Syndrome Australia, or Celebrate T21 or any of those key networks."
In the meantime, Stephanie has some advice to any expecting mothers who have received a Down syndrome diagnosis.
"Take a deep breath and try not to worry because once your baby is in your arms all else will melt away.”
"This is coming from my perspective prenatally, but just remember that you're having a baby and a baby should always be a ‘congratulations’. And if you are feeling devastated or sad, because you're in shock of what this means for you, we are here for you, your Celebrate T21 family are here and we will help to guide you along the journey."
First published on Mamamia.com.au visit here to view the original:.https://www.mamamia.com.au/down-syndrome-test/