Life-saving cystic fibrosis miracle drug stuck in limbo

The breakthrough cystic fibrosis therapy comes with a major catch: it is not yet available in Australia and can cost up to $400,000 per year.

Cystic fibrosis sufferer Lyla Gillard, 12, with her mother Hayley, is alive only because of a wonder drug that is available overseas but not in Australia. Picture: Marie Nirme

Lyla Gillard was diagnosed with cystic fibrosis, a deadly genetic disease that affects the lungs and digestive system, at just six weeks old. She was living on borrowed time — and her mother, Hayley, knew it.

By the time Lyla was 12, her lung function had plummeted to 40 per cent and she was unable to walk her dog, much less run a 100m sprint, her favourite sport.

“Lyla was on oxygen night and day,” said Ms Gillard, who lives in Perth’s north. “In her short life, she has probably had about 70 hospital admissions, and they all last three weeks at a time.”

The incurable disease is surprisingly common: one baby with cystic fibrosis is born every four days, and one in 25 Australians carries the mutation.

Cystic fibrosis causes a thick, sticky mucus to build up in the body’s organs, clogging a person’s airways and trapping bacteria.

Patients will often spend hours each day coughing to keep their lungs clear. Eventually, they will be unable to breathe at all.

In July, it became clear that Lyla was running out of time. As her oxygen levels fell, doctors at Perth Children’s Hospital told Hayley her daughter would need a double lung transplant.

“It got to the point where our only option really was transplant, and you want to do everything to avoid that,” Ms Gillard said.

“We wanted to explore every other avenue.”

With the help of Lyla’s specialist, Dr Andre Schultz, Ms Gillard stumbled across a drug called trikafta, a triple-combination therapy that targets the genetic root of the disease, instead of just alleviating symptoms.

“It’s a game changer,” said Dr Schultz, a paediatric respiratory physician at Perth Children’s Hospital. “We know from trials that the response in individuals with cystic fibrosis is remarkable.”

But the breakthrough therapy comes with a major catch: it is not yet available in Australia and can cost up to $400,000 per year.

However, Lyla is among about 50 Australians, according to Cystic Fibrosis Australia, who have secured access to trikafta on “compassionate” grounds from Vertex Pharmaceuticals, the US company behind the drug.

“She would be dead by now if she had not got that drug,” Dr Schultz said. “Her dad was in tears when he told me how she was able to walk down the stairs and say ‘good morning Daddy’. Until then, she was in bed all day.”

Eight countries, including the US and UK, have approved trikafta. But in Australia, the approval process is in limbo. A decision on whether trikafta should be a PBS-funded treatment will not be made until March, almost nine months after the drug became available on Britain’s NHS.

Nettie Burke, head of Cystic Fibrosis Australia, has called on Vertex, which is set to make about $US6.6bn from trikafta over the next five years, to grant temporary compassionate access to all Australian sufferers. “We believe a few months’ supply for 1200 Australians is reasonable and maybe will speed up commercial negotiations,” she said.

A spokesman for Health Minister Greg Hunt said the government would “not hesitate” to list trikafta on the PBS, assuming medical experts recommend the therapy for use and the company agrees to a price in March.