It’s a fate no family should have to endure – three children from one family all struck with the same fatal genetic condition.
That’s the reality facing Tarneit’s Tantaro family.
Brothers Jakob and Lukas and their cousin, Anthony, were born with Duchenne muscular dystrophy (DMD), a hereditary condition that causes muscle wastage, breathing difficulties and heart problems.
The degenerative disease means that 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. There is no cure.
Seven-year-old Jakob has started using a scooter for long distances and is suffering from a speech impediment. He takes steroids daily in a bid to manage his condition.
Lukas, 5, has started on steroids in the past month. His movements remain normal for a child his age, but he is completely non-verbal and relies on a book that has symbols and words to help him communicate. His back is more curved than his brother’s, which could be an early sign of scoliosis.
Anthony, 10, is slowing down and can no longer get off the floor on his own. He can’t do simple things such as putting on his own socks, and mostly relies on his motorised scooter to get around. He takes steroids and heart medication and has been seeing a psychologist as the effects of the condition bring him down.
Both Anthony and Jakob are taking part in a placebo trial for the drug Ataluren, which helps to slow down the effects of the disease.
The concern is that full approval for the drug is about five years away for Australia, so the family is planning to send the boys to Italy for treatment early next year while grandmother Sue lobbies for Ataluren to be made available in Australia.
Every day, the boys’ parents and grandmother are faced with the harsh realities of the disease, which is slowly eating away at their mobility and spirit.
For Sam, who is mum to Jakob and Lukas, her day begins at 6am when she wakes up her sons to remove the leg braces they have worn all night and massages their legs for up to 30 minutes to relax their muscles.
The rest of her day goes something like this:
7am: Jakob and Lukas both take their steroids; Jakob takes his first dose of Ataluren/placebo.
7.30am: Sam assists both boys with eating breakfast because they have trouble using cutlery and chewing.
8am: Sam helps both boys through their stretches then helps them get dressed.
8.45am: Drop Jakob off to school.
10am: Sam works with Lukas in a bid to lift his verbal skills.
11am: Lukas is taken to a number of appointments on any given day, including a speech pathologist, occupational therapy, hydrotherapy, hospital visits and appointments with early intervention workers. Sometimes Jakob is taken out of school for appointments, too.
Lunch: Help feed Lukas lunch.
1pm: More stretches for Lukas.
3pm: Pick up Jakob from school.
6pm: Help both boys eat dinner.
7pm: Stretches for both boys. Then shower and dress both for bed; and put leg braces on both boys to wear throughout the night.
It’s a routine that gets more onerous as the boys get older and their condition deteriorates.
Both Sam and her sister, Maree, who is mum to Anthony, have had to stop working to become full-time carers for their children.
“They go to the Royal Children’s Hospital to see the neurologist, the physio,” Sam said. “They go to speech therapy, occupational therapy – there’s a lot of appointments.”
The family has set up a trust account – the Cousins Crusade Appeal – and is raising money to fund the overseas treatments and for things the National Disability Insurance Scheme doesn’t cover, such as accessible vehicles, scooters, wheelchairs and various therapies.
Sue is building a specially-equipped respite home in Tarneit for her grandsons. It should be ready in the next six to nine months. Two members from the Point Cook Rotary Club have offered to do her yard once the house is complete.
“The house at the moment is for respite care, and the only time Sam will move in is if she needs to move in,” Sue said. “Same with Maree. It’s there for when they need a break.”
The Wyndham community has rallied behind the family, with a recent Wyndham Business and Tourism Association charity event raising $8108 for the Tantaros.
Donations to the Cousins Crusade Appeal Trust can be made at BSB 063 622, account number 1104 0406.
