A Wyndham family is grappling with a fatal genetic condition that has struck three of their children.
Tarneit grandmother Sue Tantaro is doing all she can to support her three grandsons –Anthony, Jakob and Lukas – who were all born with Duchenne Muscular Dystrophy (DMD), a condition that causes muscle wasting, breathing difficulties and heart problems.
The degenerative disease means by the time the boys are 12, they will lose their ability to walk. In their teens, they’ll lose their upper body function and will eventually become quadriplegics.
Most DMD sufferers usually die from heart or respiratory failure in their early to mid 20s. The condition affects one in 3500 boys and one in 50 million girls.
Sue’s eldest grandson, Anthony, was diagnosed three years ago just shy of his fifth birthday.
Anthony’s mum, Maree, said despite her son being a slow developer as a baby and toddler, doctors were not initially concerned.
“We were just told by a couple of GPs that they didn’t think it was anything serious – they thought it may have been autism or another issue,” Maree said.
Unhappy with the lack of answers, Maree went to yet another paediatrician, and Anthony was finally diagnosed. The family then discovered his condition was hereditary.
By this time, Maree’s sister, Samantha, already had son Jakob, now five, and was heavily pregnant with Lukas, now three.
Both boys have since been diagnosed with DMD.
Sue’s other daughter, Logan, is now being tested for the disease-carrying gene.
If she is found to have it, Logan will opt to have children through IVF, which can eliminate the risk of her children having DMD.
“Had Anthony been diagnosed early, we wouldn’t have had the other two … we would have used IVF to have children,” Sue said.
“I think I’ve cried every day since Anthony was four and 10 months. As a grandparent, I worry about my daughters, who worry about their own children.”
Samantha and Maree will eventually have to quit their jobs to be full-time carers for their sons.
The family is keen to raise awareness about early detection of the disease, and will hold a fundraiser next month to go towards the boys’ medical and lifestyle expenses.
Sue estimates that it will cost more than $1 million to care for the boys, with money needed for scooters, wheelchairs, modified cars and houses, and regular physiotherapy, speech therapy and hydrotherapy.
“The government does help, but there’s not unlimited funds,” she said.
“There are some drugs that change DNA that are still being approved in America and the UK … we are working with (charity) Save Our Sons, so that when a trial comes out here, the boys will go on the trial. There is hope … you always live in hope.”
The family are throwing a Cousins’ Crusade Cocktail party, with auctions, live music and appearances by AFL and NRL players at Berth Restaurant and Events on March 17.
Details at: cousinscrusade.eventbrite.com
