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Paediatrician Sarath Ranganathan witnesses first-hand the impact a cystic fibrosis diagnosis has on families. “Parents usually have no idea there is anything wrong with their children and often they haven’t heard of cystic fibrosis,” says the researcher. “It has a very strong negative psychological impact on families at the time of diagnosis.”
In Victoria, cystic fibrosis is screened for at birth and can be detected before any symptoms appear. The condition affects about one in 2,800 Australian children, with one in 25 people carriers of the disease-causing gene.
The disorder mainly affects the lungs and digestive system, but it also affects a number of other organs. The malfunctioning gene causes mucus in these organs to become excessively thick. This can lead to bacteria becoming trapped in the lungs, causing frequent infections. Lung failure is the major cause of death for people with cystic fibrosis and in the past they were not expected to survive into adulthood.
Life expectancy has improved but it’s a difficult and costly disease to manage with daily supplements, physiotherapy and medication to help digestion and breathing. Affected individuals have to avoid being in the same room as others with the condition, because they can pass on specific infections to each other. So it takes a social toll. Depression is about three to four times higher in this group – individuals and caregivers – than the rest of the community.
Sarath’s world-leading research pivots on the window of opportunity afforded by the early diagnosis at birth. It’s what drew him to Australia and in particular, Victoria, where newborn screening for cystic fibrosis has been in place since 1989.
As a PhD student in London, Sarath investigated a novel technique to test babies’ lung function. The test mimicked the classic lung function test, spirometry, used in adults and older children. The research showed lung function abnormalities, an early indicator of lung problems especially in children with cystic fibrosis, could happen earlier than previously thought.
At that time newborn screening for cystic fibrosis wasn’t offered in the UK. “What we wanted to do was extend the work into babies who were diagnosed really young so we could test them as early as possible before they developed respiratory symptoms,” he explains.
Sarath relocated to Melbourne in 2004 to continue his research at the Murdoch Children's. He juggles fatherhood – he has three children aged 15, 12 and nine – with a busy research and paediatric career, including his role as director of a clinical department. He’s a polished professional, but the challenges facing some of his patients are still keenly felt.
“When you’ve got your own kids and you see someone your own children’s age in front of you, going through some difficult times, it’s always more poignant,” he says.
Sarath’s research at the Institute has shown that lung abnormalities, including lung scarring, could be present in the first few months of life after infections and inflammation associated with cystic fibrosis. These lesions can make individuals more susceptible to further infection and cause a decline in lung function, which can ultimately lead to death due to respiratory failure.
“In the past we only really reacted to symptoms, but now we are much more proactive and aggressive, even trying to introduce treatments before symptoms present like coughing, shortness of breath and poor appetite,” he adds.
Sarath’s team established the world’s first study to introduce a treatment – using a drug called azithromycin which is used in older children – to prevent lung scarring occurring in babies.
In the past, drugs for cystic fibrosis treated the symptoms of the disease but new medications are emerging that promise to be game-changers. These ‘disease modifiers’ target and correct the genetic defect of cystic fibrosis.
The drugs, which could significantly improve the quality of life for people with the condition, are usually only prescribed to children aged six and over.
“The idea of our research is that the lung disease associated with cystic fibrosis starts really early. To prevent it, you’ve got to start these sorts of treatments much earlier, as soon as diagnosis really,” says Sarath.
“What we are really hoping to do is to introduce these disease modifying treatments to babies. So we’ll be studying those in the near future, using the same sorts of trial designs, to try and prevent the lung scarring before it has a chance to develop or become serious.”
Sarath – who develops close ties with patients he sees from birth until 18 – says some have gone on to become elite athletes. One former patient is now a professional jockey. Even the Wallabies have a player, Nathan Charles, with the condition – the only athlete in the world playing a contact sport with the disease.
“These people are an inspiration to others with cystic fibrosis and to lesser mortals like myself!” he says.