Lifestyle

Family's battle to help brothers live with 'bombshell' genetic disease

Family's battle to help brothers live with 'bombshell' genetic disease
Riley Brown was an inquisitive kid who liked to walk on his tippy-toes.
To any ordinary person, that might have explained why his calf muscles were a little enlarged.
To his paediatrician though, it looked like something more sinister.
Riley Brown was an inquisitive kid who liked to walk on his tippy-toes. (9News)
"We were in there for 10 minutes or so and she said 'I think I know what it is; I hope I'm wrong but I'm going to order some blood tests,'" Riley's mum, Vanessa Brown, says.
"She was preparing me for not-good news and said to make sure that I came back with my husband. That was a bombshell moment for me."
Riley's doctor was testing for muscle disease and when Vanessa's husband Nathan googled the symptoms, the couple had alarm bells ringing at deafening volumes.
Blood tests rolled into genetic tests and the diagnosis came back: Riley had Duchenne Muscular Dystrophy, a genetic disease where the body's muscles, including the heart, weaken over time.
Genetic tests showed Riley had Duchenne Muscular Dystrophy, a genetic disease where the body's muscles including the heart weaken over time. (Supplied)
It predominantly affects boys, about one in 3500 of them.
Vanessa was confirmed as a carrier of the genetic mutation.
But the devastating news was about to get even worse.
Riley had a baby brother. Tarek was only three months old at the time and genetic testing confirmed that he too, had the disease.
Both boys would be lucky to reach their 20s.
Riley had a baby brother. Tarek was only three months old at the time and genetic testing confirmed that he too, had the disease. (Supplied)
It was an isolating time for the family from Wetherill Park in Sydney's western suburbs and Vanessa chose not to engage with online support groups for some time.
"I avoided these groups for a long time because it showed me what was going to happen in the future," she said.
"Just recently an 11-year-old boy died from Duchenne. It's a reminder that that's what we're facing in the future. We don't focus on it but it's always in the back of your mind."
Riley and Tarek were diagnosed in 2016. Riley is about to celebrate his ninth birthday on October 1. Vanessa would love if he was still walking on his toes, something she thought back then was an innocent habit.
It was an isolating time for the family from Wetherill Park in Sydney's western suburbs. (Supplied)
Instead, Riley's strength has deteriorated significantly in the past six-to-12 months.
While he attends the local public school, he's not like the other kids. He's in a motorised wheelchair that can't come home with the family because they don't have a car to transport it.
The couple is trying to raise enough money to purchase a car that can be modified to fit not one, but two motorised wheelchairs, so they can take both boys out.
Tarek doesn't need one yet but the family knows it's only a matter of time.
The brothers' parents are now fighting to raise money for a chair that can accommodate two wheelchairs so they can help their boys lead a normal lifestyle. (9News)
"It would make such a massive difference with getting out and about into the community," Vanessa said.
"And most importantly I know Riley would be safe and he wouldn't have to walk to the car. He recently had to walk from school to the car and his legs just gave way and he fell backwards and hit his head. He didn't trip or anything, his legs just gave way.
"He can't run around and play like rest of the kids can. He can still walk but it's dangerous if he gets knocked or pushed. The steroids he's on cause reduced bone density so any breaks can be devastating.
"He doesn't know about the shortened life expectancy but he knows that one day he won't be able to walk.
"We wish he could just be a normal kid and not miss so much school and run around and play soccer. Life is difficult. It's nothing like you imagine when having kids and having a family."
Tarek is reaching the peak of his abilities and Vanessa has noticed that he's been struggling to stand up from a sitting position and make it upstairs.
He looks like a normal four-year-old kid but he can't hop, for example, because he doesn't have the strength in his legs.
Vanessa and Nathan are hoping to get Tarek into a clinical trial starting in the new year at The Children's Hospital Westmead.
It involves a drug already approved for use in the United States but not yet approved in Australia.
So on top of caring for their two boys, the couple is also involved in advocacy for better awareness of the disease, and for the same access to drugs here that children overseas have.
"We just want to be able to do normal family things like go out to a park, be a family and create those memories."