Sue Tantaro’s grandsons are loud, lively and full of personality.
As they play in the backyard of their grandmother's house, west of Melbourne, it’s almost easy to forget about the cruel genetic disorder that will one day rob them of the ability to walk and eventually the ability to breathe unaided.
Ms Tantaro said it's a reality she wakes up with every morning.
“As a grandmother, it's heartbreaking. I’ve cried every day for almost five years. I get up in the morning, have a bit of teary and get on with my day.”
Anthony, Jakob, Lukas and Sue Tantaro. Source: SBS News
Anthony, Jakob and Lukas all have Duchenne Muscular Dystrophy (DMD). It was passed on from their mothers, Samantha and Maree, who were unaware they were carriers of the disease until all three boys had been born.
Samantha, mother of seven-year-old Jakob and five-year-old Lukas, said she received the final diagnosis when Lukas was just 10 months old.
“I already knew what it was because of my nephew and because of Jakob as well. It was devastating ... I’ll always remember those days.”
For the brothers, life is a carousel of exercises, doctor’s visits and stretches to preserve their muscle function. Samantha says it's a constant fight against a disease that moves at devastating pace.
“They don’t know the extent of what’s going to happen because they’re quite young. They haven’t asked me questions and we haven’t gone into that. And they see Anthony and know he has the same thing.”
Source: SBS
DMD is characterised by progressive muscle degeneration. It is caused by an absence of a protein called dystrophin, which helps keep muscle cells intact. Symptoms usually begin from three to five years old, and by 12, children generally lose the ability to walk.
It affects about one in 3,500 boys but is extremely rare for girls. A statistic that is bittersweet for Maree Tantaro.
She is currently pregnant with a daughter, but worries what the next few years hold for her 10-year old son Anthony.
“He's deteriorating quite badly now. At his last appointment we were told that he doesn’t have much longer to be walking around.”
Grandmother Sue is determined to keep him walking by any means necessary, even if it means seeking treatment overseas.
While watching the furore in Canberra over parliamentarians holding dual citizenship, it occurred to her they might be able to access treatment for the disease in Italy.
“I sat at work one day and I went 'oh my Dad died an Italian citizen,' it just dawned on me, just like that, it was like ok, I can find out what I can do about it. So I went to my sister who luckily kept all my dad's documentation.”
Source: SBS
She applied for Italian citizenship for her daughters and grandsons in an effort to gain access to a new drug that is available under conditional approval only in Europe. Mid-next year, the family are hoping to set the plan into action.
It will be a long journey for the three boys but Anthony said he's looking forward to the new treatment and of course the pizza.
“We have to go to Italy which is really boring because it’s a really long flight, but the fun part is eating lots of food and stuff.”
The drug is called Ataluren or Translarna, and is designed to overcome the nonsense mutation in the boys' genes to produce a functional dystrophin protein.
Anthony and Jakob are currently participating in a trial for the drug, but it’s unknown if they’re receiving a placebo or the real thing. They'll gain access to the drug in the latter half of the trial but there's no guarantee they'll receive it after the trial is complete.
There’s also no guarantee the drug will ever be approved for general use in Australia, and if it is, Sue said without it being listed on the Pharmaceutical Benefits Scheme the costs could be exorbitant.
“That drug is $300,000 per 20-kilo child. If you’ve got the money then yes, but when you have three children with it that’s almost one million dollars. It’s never going to happen for our family.”
Executive director of Muscular Dystrophy Australia Boris Struk knows the frustration of wanting access to new treatments for the disease. He also has a son with DMD.
Source: SBS
Mr Struk said while progress can seem slow for families dealing with the disease, advancements, particularly in easing symptoms is being made.
“Previously parents were told go home, enjoy your son, they’ll be gone by 14-15."
"That’s now changed, we’re looking at late teens into the early 20s. It's a different paradigm today and a lot of that is to do with the mechanics of what's being done."
He says treatment for DMD is evolving slowly, but he says it’s necessarily slow.
“The foot is not on the break, the foot is on the accelerator. You try and fast track as much as you can within the bounds of safety.”
Source: SBS
But Sue is determined to explore all options as quickly as she can. She is fundraising to get her grandsons to Italy in 2019 and to a drug she hopes will keep them loud and lively for longer.
“We haven't got time to wait. It's a time bomb, a ticking time bomb. This is the only hope we have, and every part of me wants this to work.”
