Mike Freelander (Macarthur, Australian Labor Party) Share this | Hansard source

This is a personal thing for me. I've looked after people with cystic fibrosis since the 1970s. I've cared for many children who, unfortunately, haven't survived. I've seen the slow but steady improvements in the care of people with cystic fibrosis, and now life expectancy has gone from the late teens to the late 30s. So really there have been some significant changes.

I've seen children with cystic fibrosis present in many different ways, from a condition called meconium ileus, which is a type of bowel obstruction in the neonatal period, through to hyponatremia, low salt levels in the blood and seizures; failure to thrive; malnutrition; and recurrent pneumonia—all different presentations of cystic fibrosis.

Like with many paediatric disorders, Australia has actually led the world in management of cystic fibrosis, and we were one of the first countries in the world to introduce the newborn-screening test for cystic fibrosis. This led to early diagnosis, early treatment and better outcomes. In the days before the 1980s, the diagnosis was made on clinical suspicion, and many children had much-delayed diagnoses and were quite sick and malnourished by the time they were diagnosed.

The underlying defect in cystic fibrosis is a genetic defect in salt transport across the cell membrane. Children with cystic fibrosis produce very sticky mucus, which leads to problems with pancreatic function, malnutrition, recurrent chest infections and chronic cough. Other complications include something called biliary cirrhosis, where the bile is sticky and blocks the bile ducts, and chronic liver disease follows and all the complications of that.

The primary defect really depends on the genetic mutation. There are a whole list of genetic mutations that cause cystic fibrosis. It's what's called autosomal recessive, so you need to get an abnormal gene from each parent. If they are both carriers, their children have a one-in-four chance of having cystic fibrosis. The commonest genetic defect is a gene deletion called delta F508. That's the one that is being targeted in the use of Orkambi. Orkambi is actually a combination of drugs: it's a combination of the drug ivacaftor, Kalydeco, which is used for a couple of specific genetic mutations, and lumacaftor, which is a different sort of drug that targets the two mechanisms that are involved in delta F508 homozygous people with cystic fibrosis, whereas Kalydeco is a life-changing, game-changing medication for people with cystic fibrosis with what's called the G551D mutation. Orkambi is not as game-changing for the 50 per cent of people who have the two doses of the delta F508 mutation. We know from studies that Orkambi does make some difference in lung function, and some improvements in weight gain and in nutrition, but it is not as life-changing and game-changing as Kalydeco.

The government and the minister are to be congratulated for the approval of the use of Kalydeco in the five per cent of people with cystic fibrosis for which it works. That is a wonderful, life-changing drug for those people. Orkambi is slightly different, in that the studies have not shown as dramatic improvements in the delta F508 homozygous people, which is about 50 per cent of the people with cystic fibrosis. Nevertheless, it has shown some improvements. We know that there are better drugs on the horizon, so I think it would be reasonable to have the Orkambi until better drugs are available. I do think we need to spend much more time, effort and resources on better treatments for people with cystic fibrosis. That means better home nursing, better home physiotherapy, better research et cetera, and we can fund the specific clinics for this.

See this speech in context