Mum’s Shock: I Didn’t Know I Had Down Syndrome!

Mum-of-three Ashley discovered that she shared a very special connection with her daughters
  • Ashley Zambelli, 23, was keen to start a family with her partner Taylor
  • They went on to have three beautiful kids together, and two of them were diagnosed with Down Syndrome
  • Ashley had genetic testing and it was revealed she herself has mosaic Down Syndrome

Here Ashley tells her story in her own words.

Trigger warning: Baby loss

Looking down at the pregnancy test, my eyes were glued to the two lines – positive!

Aged 19, my partner Taylor, then 24, and I had been trying for a family since we moved in together in February 2019.

‘I can’t wait to start this journey together,’ he said, when I shared the result.

Though I was excited, our good news didn’t come without concern.

Having suffered three miscarriages previously, I’d been left broken.

Growing up, other kids would talk of becoming astronauts or police. But I only dreamed of one thing – becoming a mum.

Following my most recent miscarriage at nine weeks along, we learned I‘d been carrying a boy who’d had Trisomy 21, also known as Down syndrome.

Shocked, I’d believed the risk was normally associated with women who conceived later in life.

More surprisingly, docs revealed because I’d already conceived a child with Down syndrome, our chances of this baby having the same genetic condition were greater, so I’d had some blood tests.

When the results came back at 12 weeks, they confirmed there was a 96 per cent chance our baby – who we found out was a girl – would also have Down syndrome.

And an ultrasound at 19 weeks revealed our bub was missing her nasal bone, both her femurs were short, and she was diagnosed with a heart condition – all indicators of Trisomy 21.

Ashley pregnant with Lillian
Ashley pregnant with Lillian (Credit: Supplied.)

‘There was no way we were giving up on our girl’

‘There’s a risk that you’ll miscarry or your baby will be stillborn,’ our obstetrician warned, suggesting termination was an option.

But after losing three babies already, there was no way we were giving up on our girl.

Despite the challenges ahead, we vowed to love our baby no matter what.

Giving birth to Lillian in December 2020, Taylor and I instantly fell in love with our beautiful girl.

Bringing her home after three days in NICU, she was so calm and sweet.

‘I’m so happy,’ Taylor kissed me.

We were finally parents.

Born with a hole in her heart, which was common among kids with Down syndrome, she underwent surgery at 13 months old to have it repaired.

Lillian after her heart surgery
Lillian after her heart surgery (Credit: Supplied.)

We were also so lucky to have my dad Scott, 49, and my grandparents, Gary and Susan, both in their 70s, who lived close by, helping out as often as we needed.

A year later, I gave birth to our second daughter Evelyn, who was born perfectly healthy.

Despite their differences, our girls were two peas in a pod, crawling around and playing together.

Hitting their milestones around the same time, I felt they were learning a lot from each other.

In August 2022, I was ecstatic to learn I was pregnant again, after a fourth miscarriage two months earlier.

At 14 weeks, doctors confirmed our bub – another girl – had a 96 per cent chance of having Down syndrome, just like her oldest sister.

‘It’s rare to conceive three children with Down syndrome,’ my new obstetrician said.

She referred me for genetic testing to determine the reason. When I was 28 weeks along, the results came in.

‘You have mosaic Down syndrome,’ a genetic counsellor revealed over the phone.

Zambelli family
Ashley and her family (Credit: Supplied.)

‘I felt validated to finally have an answer’

It occurs when a person has two or more genetically different sets of cells. In my case, I learned a number of my cells had 46 chromosomes – which is the usual amount – while others had 47.

Initially surprised by my diagnosis, I was then excited. I feel even more connected to my girls now, I thought, smiling.

Looking back, I’d had some health issues growing up including low muscle tone, problems with my jaw, and my knees dislocating at 12 which resulted in knee surgery – all symptoms of Down syndrome. 

I felt validated to finally have an answer.

Induced at 37 weeks to lower the chance of our girl being stillborn, we welcomed lovely Katherine in April this year. Like Lillian, she has a hole in her heart, and is undergoing surgery this October.

I’ve since learned the bubs conceived that had Down syndrome came from my left ovary – which had some cells with 47 chromosomes – and Evelyn was from my right ovary.

Although they can’t be sure, docs suspect that the miscarriages I experienced all came from my left side.

To honour the babies I never got to hold, I had a blue and pink ribbon – the symbol for baby loss awareness – and tiny footprints tattooed on my hip. That way I carry them with me wherever I go.

Our girls, Lillian, now two, Evelyn, one, and Katherine, five months, are perfect in every way.

Lillian and Evelyn love to hold their baby sister’s hand as they all watch Monster’s Inc.

The girls are all different, but at playtime they love to draw while my bub coos so sweetly.

As Lillian is still learning to talk, she signs to us please and thank you – and loves to point at her beautiful sisters.

I love how we’re all unique. There’s nothing more special than that.

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