Jeans for Genes Day: Mum’s ‘absolutely devastating’ phone call

After years of IVF, one couple’s dreams came true when they finally became parents. But when their son was five weeks old, that dream was shattered.

After six years of failed IVF and trying eggs from different donors, Caron and Matt thought all their dreams had come true when they finally became parents.

Their son Jude was born, happy and healthy, after what Caron described as a “great” pregnancy and delivery.

“I remember when we went through IVF – obviously there’s so many appointments,” she told news.com.au. “And when I had Jude, I just remember saying to my husband, ‘Thank God, I’ve got no more appointments.’”

But when Jude was just five weeks old, the family’s dream was shattered.

“I got a phone call from a paediatric registrar at Nepean Hospital where he was born, and they said that his newborn screenings tests indicated that he had cystic fibrosis,” Caron said.

“And that just flawed me. Being a registered nurse, I knew about CF. So it just devastated me.”

A progressive, genetic disease, cystic fibrosis primarily affects the lungs and digestive system because of a malfunction in the exocrine system that’s responsible for producing saliva, sweat, tears and mucus. In Australia, one in 2500 babies are born with CF — equating to one every four days.

“It was absolutely devastating,” Caron said, adding that in his first year of life she “felt more like his nurse than his mother”.

RELATED: Incredibly rare disease strikes twice

Jude was diagnosed with cystic fibrosis at five weeks old. Picture: Supplied

His parents, Caron and Matt, were ‘devastated’ at the news. Picture: Supplied

“I couldn’t wrap my head around the fact that it was so hard to have him in the first place, and then to find out that he had a fatal illness, you know, when he was five weeks old, it was just so unfair.

“I couldn’t understand how that could happen – how we had wanted him so much and that he could be taken away. But I always said at the time, ‘I fought so hard to get him here, I’m going to fight even harder to keep him.’”

Since then, life for Caron, Matt and Jude – who turns seven in December and is an ambassador for Jeans for Genes Day 2021 – has been a cycle of hospital appointments, physio and medication and, most importantly, trying to prevent Jude catching any illnesses that could cause him permanent lung damage.

“It’s a lot of hospital visits – they become like your second family. And it’s always – every little cold that he gets, it’s actually terrifying,” Caron said.

“Because every infection, every cold, can cause permanent lung damage. So it’s not like when a regular child gets a cold and you go, ‘Oh, he’ll be right in a few days.’ It takes them a lot longer to get over it. They usually need two courses of stronger antibiotics to get over it.

“So it’s always, ‘Is this going to be the cold or respiratory illness that puts him in hospital?’”

Caron knew, when Jude was diagnosed, that CF is fatal, that those with it often die at a young age, and that “the outcome wasn’t good”.

But, despite working in the field and having looked after people who had babies with cystic fibrosis, she didn’t know that there are more than 2000 different genetic mutations of the disease.

Jude’s particular mutations, which can cause “lots of problems” with both his lungs and his digestion, are both rare, “and they’re both considered severe”.

“So in terms of the outcome for a person – the outcome at the end is always death for someone with cystic fibrosis, sadly – but you do have milder variations where they can kind of have a longer life expectancy,” Caron explained.

RELATED: Scary reality behind baby sleep joke

Now six, Jude is an ambassador for Jeans for Genes 2021. Picture: Supplied

In the six years since his Jude’s birth, there have been leaps and bounds in both research and treatments available to those with cystic fibrosis.

“Time isn’t on your side, and you obviously don’t want your child to get a lot of lung damage because obviously you can’t fix that, [but] in terms of hope for a cure or hope for medications to prolong their life and improve their quality of life, there’s so much hope and so much research, and a lot of advancements,” she said.

It’s for this reason that the work of organisations like Jeans for Genes is so important, with one in 20 children impacted by a genetic disease.

“Even before I had a child with cystic fibrosis, being a nurse I’ve always thought that anything to do with research and science, that’s your ticket. That’s a cure. So it was a great honour for Jude to be picked as an ambassador,” Caron said.

“And we’re really promoting that because for a lot of children with genetic diseases, that is your only hope. That science, it’s that research – they are the people that will find the cure to save our children’s lives.”

With your help we can make a difference for future generations. Jeans for Genes Day is on Friday August 6, but you can donate any time of year! Sign up to raise money, volunteer or learn more at JeansforGenes.org.au

Originally published as Jeans for Genes Day: Mum’s ‘absolutely devastating’ phone call