Brendan and Sharon Voss with their sons Elijah and Sam who has been diagnosed with batten disease at four years old.
Brendan and Sharon Voss with their sons Elijah and Sam who has been diagnosed with batten disease at four years old.

Boy first in Queensland to receive groundbreaking treatment

FOUR-YEAR-OLD Sam Voss has become the first person in Queensland to undergo groundbreaking medical treatment to extend his life expectancy, after receiving a terminal diagnosis.

Parents Sharon and Brendan Voss have watched their once vibrant little boy deteriorate in front of their eyes during the past six months causing unimaginable heartbreak as they come to terms with the incredibly rare diagnosis of batten disease, a fatal neurodegenerative disorder.

It was initially thought to be epilepsy. Mr Voss said medical staff at their local hospital in Mount Isa were at a loss after six months of trialling medication that was having no effect on Sam's condition.

"I think we got up to trialling five or six medications," Mr Voss said.

"No one in Queensland could figure it out so they had to send DNA tests to America to get answers."

Three months ago the parents were told by doctors in Brisbane via video link their little boy had batten disease and would have a life expectancy of about 10 years old.

Mrs Voss recalls the heartbreaking moment.

"It was absolutely harrowing, after they said terminal I just switched off," Mrs Voss said.

"It was like my heart was ripped from my chest."

Queensland Children's Hospital paediatric neurologist Stephen Malone has been managing Sam's care and said the rare disease affects the nervous system until the body eventually shuts down.

"Children with this devastating and rare disease typically show symptoms by age two to four years, and progressively lose motor and language skills, and develop seizures which may be difficult to treat. Over time children become wheelchair-bound, lose vision, and typically die in the teenage years," Dr Malone said.

In a small piece of luck for the Voss family a new drug treatment was released on the market in Australia only a month before their diagnosis, but with little testing the family had to decide if they wanted to pursue it.

"They did say to us you have to think about it long and hard but what is there to think about when there's no other option," Mrs Voss said.

"The longer they can keep him here the better, it could be six to 12 months we don't know."

Dr Malone said Sam had to travel to Brisbane every 14 days to receive the invasive treatment from a specialist medical team.

"The problem with the condition is that it's a lack of a special enzyme in the brain and the eye," he said

"You need to be able to give the brain back this enzyme to function, and to do that we have to deliver the enzyme directly into the brain, rather than giving it by mouth or into the bloodstream.

"To do that the neurosurgeons have to implant a catheter into the brain, that stays in and is accessed by our team every two weeks to deliver the treatment."

Dr Malone said although Sam's condition could never be reversed the purpose of the treatment was to slow down his terminal diagnosis.

"It doesn't necessarily improve someone with the disease, but it significantly slows the progression.

"We would hope this treatment would give a stability to his condition and with time there may be other therapeutic options. At this stage it's the only viable option for Sam."

The family's life has been turned completely upside down with mum Sharon having to return to work to cover financial costs while dad Brendan has become a full time carer for Sam who now has the mental capacity of a 12-month-old, which is the same age as their youngest son Elijah.

"Sammy is in his little bubbl. He doesn't know any better, he's quite happy. But we know what he was like before and that's heartbreaking, Elijah now speaks more than he does," he said.

"He's the best he's going to be right now and he's only going to get worse.

"The worst thing is Sam's still here and we're mourning him like he's gone. All we have is hope."

>>A GoFundMe Page has been set up to help the family with ongoing medical costs. Visit www.gofundme.com/sammysfight to donate