'My son has a genetic condition. I'll likely outlive him'

“I don’t get to keep my boy for long, so that’s why I’ve got to make the most of every second.”

There’s a good chance Cara will outlive her son.

She knows it. She’s known it since the moment her trembling hands typed Duchenne muscular dystrophy into Google. 

One search. One sentence. One ticking clock. 

In 2018 Lucas was diagnosed with Duchenne muscular dystrophy. Image: Supplied

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"The future changed"

“It was like this kind of surreal feeling that every hope for the future changed,” Cara told Kidspot. 

“But then in that same moment, nothing changed… you know, we still had each other.” 

The Perth mum’s nine year old son, Lucas, was diagnosed with Duchenne muscular dystrophy in 2018. 

It’s a rare, progressive genetic disorder that causes muscle degeneration and weakness.

Primarily affecting boys, Duchenne slowly robs children of their ability to walk, move, eat and eventually, to breathe. Life expectancy is typically between 20 and 30 years of age.

“We've now had a few years to sort of process it and understand what it means. That process took a long time,” Cara explained.

From the start, Cara had a gut feeling that something wasn’t quite right. As a first-time mum, she chalked it up to inexperience.

"All my concerns were like, 'oh, he's a boy. Boys develop a little bit later,’” she recalled. 

But then the differences became impossible to ignore.

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During a brief stint living in Sydney, Lucas had a couple of nasty falls that landed him in emergency where things started to click.

A pediatrician on duty at the hospital referred them to someone else who after a series of physical assessments mentioned Duchenne on the spot.

Cara had never heard of it. She walked out of the clinic thinking they had finally found an answer.

“I remember walking out of the clinic just going, 'oh, that’s okay, like at least we’ll have a diagnosis. We can fix it',” she recalled.

“That’s when I came back and Googled, like everyone does... and then that’s the moment, my life. I felt like it changed.”

Cara learned not only was Duchenne incurable, it was also genetic.

Specifically, it had come from her.

“I found out I was a carrier after Lucas was diagnosed,” Cara said. 

“Somehow this little mutation happened in me and I gave it to Lucas.”

The guilt was instant. And crushing.

Cara eventually sought genetic counselling. A vital resource for coming to terms with the why behind her son’s diagnosis.

“That helped me deal with the guilt a lot so that I didn’t feel so guilty that I’d passed something on to my son,” she explained.

According to Professor Yemima Berma from Human Genetics Society of Australia, counselling for results is under-resourced across the nation. 

“Genetic services in Australia have not grown to match the rapid growth in uptake of genetic testing in healthcare,” she said. 

“In some areas Australians are waiting up to 4 years to access expert genetic advice.”

Understanding genetics can assist couples with future planning and understanding what they could unintentionally pass onto their children. 

“Genetic testing of potential carriers is important for reproductive decision making and to establish if any additional surveillance is needed."

The family focus on making every second they get with Lucas count. Image: Supplied.

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Cara and her husband have tested their stored embryos to avoid passing on the mutation and one day they plan to test her 8-year-old daughter too, after she turns 14.

For now Lucas’ future might be short, but it’s filled with love. 

"I think what sort of changed in me as a mum was just knowing that my job now... is I've got to give my son the best life possible,” she said.

The family has already made modifications to their home to prepare for what lies ahead. Things like wider doorways, ramps and accessible bathroom fittings.

He’ll potentially need a wheelchair around the age of 12, much like many boys diagnosed with the condition. 

Life is shaped around a particular mindset. 

“I don’t get to keep my boy for long, so that’s why I’ve got to make the most of every second,” Cara said.

Originally published as 'My son has a genetic condition. I'll likely outlive him'