The pregnancy they dreamed of - and a devastating diagnosis
Just months after their wedding, Emily and Andy’s joy turned into something they never expected to face.
Married in November 2024, it was just a few weeks later that a long-shot pregnancy test delivered the news they’d been hoping for - Emily was pregnant.
“Andy has always wanted to be a dad, for as long as I've known him,” Emily said. “He grabbed me and picked me up, then called his brother straight away to tell him.”
When a routine ultrasound detected two embryos, the couple’s joy knew no bounds.
Pictured: Emily and Andy on their wedding day before pregnancy.
Pictured: Emily's routine ultrascan revealed two embryos.
“I was stoked,” Andy said. “I was cheering and Emily was crying.”
They were, Emily agreed, “over the moon”.
“We started buying two of everything and big, bulk nappy packs.”
Electing to have a 3D scan at 16 weeks, the Hervey Bay couple discovered they were having a pigeon pair; a little boy and a little girl.
“We actually had our names picked out long before then - before we were even married - because we’d always wanted to be parents,” Emily said.
The call that changed everything
But it was after the 20-week scan, at home and relaxing on the sofa, that Emily got a devastating call that changed everything. The scan had detected abnormalities in their son’s development.
"It's not something that I expected. It's the type of thing that you always think happens to everyone else but not yourself,” Emily said.
“I didn't really take much of the phone call in at the time so, the next day, we decided to go down to Hervey Bay Hospital and asked to speak to someone face-to-face so they could explain.
“They sat us down and basically told us, it doesn't look good. But without the facilities there to investigate further, we’d have to be referred on.”
Told she would have to travel to Brisbane for further tests, Emily was desperate to connect with the specialist team who could give them the answers they needed.
Waiting for answers
With an appointment booked at Royal Brisbane and Women’s Hospital (RBWH), the short two week wait felt like a lifetime. A battery of tests ensued, with the couple braced for each set of results.
“We basically just had to take everything week by week,” Emily said. “But finally, it was confirmed. Jackson had a rare structural disorder - Rubinstein-Taybi Syndrome.
“The condition affects multiple organ systems. Even at that early stage, one side of his heart was smaller than the other, his lower limbs had stopped growing and his gallbladder was double the size it should have been.”
Just months into their marriage, Emily and Andy’s joy had given way to indescribable pain.
With no certainty about what the future would hold, they placed their faith in RBWH’s Maternal Fetal Medicine unit and its dedicated team of specialists. The care they received would soon become their lifeline.
Stories like Emily and Andy’s are why expert care is so vital - giving families answers, support and hope during the most uncertain moments of their lives.
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