Once upon a time doctors could only give children with cystic fibrosis a slim chance of surviving past young adulthood. Thanks to new treatments and more holistic care, the prognosis has changed, but that is presenting new challenges.
By Cathy O’Leary
For people born with cystic fibrosis before 1989 it was a grim prognosis, with survival past their 30s considered rare. Even 20 years ago, the average age of death for someone with the condition was only 27.
Understandably, much of the research and medical focus was traditionally on extending life rather than improving symptoms or treating side effects.
But the advent of new treatments, such as the genetic modulator drug Trikafta, means a baby diagnosed with cystic fibrosis now can be offered a very different future to that of someone born in the 1990s – with a good chance of living to middle-age and beyond.
Cystic fibrosis is a complex, multi-system condition caused by one of several genetic alterations that can be passed down through family bloodlines or occur spontaneously. The mutations affect the CFTR gene, which manages the flow of water and chloride in and out of cells lining many of the body’s soft organs, including the respiratory, digestive and reproductive tracts.
The result is a build-up of sticky mucus, leading to recurrent respiratory infections, difficulties absorbing nutrients from food, damage to the pancreas and an increased risk of diabetes, and fertility problems.
Modulator therapies are considered the biggest change in the CF world in more than 50 years, after years of only small incremental improvements. Although not a cure, they have the potential to move CF from being a debilitating, chronic disease to something much more manageable.
In the past, the focus was largely on CF’s respiratory issues, as those symptoms were the most obvious, but now the approach is more holistic and addresses other systems in the body, such as nutrition, cardiac care and endocrinology.
But with more people with CF living longer it is creating new challenges for health services, which need to be resourced and equipped to support them.
There has been a recent injection of money into the local CF efforts, including the State Government late last year pledging $1 million from the Future Health Research and Innovation Fund towards new WA-based research projects this year.
With co-funding from the charities Conquer Cystic Fibrosis and Cystic Fibrosis WA (CFWA), more than $2 million will be used to explore therapies and treatment options for the 430 cystic fibrosis sufferers in the State, addressing critical issues such as antimicrobial resistance.
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But experts argue that with no cure for CF, and its trajectory still hard to predict, medical support for the growing adult CF population needs better resourcing.
Defying the odds
Even among those born with cystic fibrosis decades ago, there are some who have defied the odds to live beyond their predicted life expectancy, including 64-year-old Perth man Mitch Messer.
When he was born, he was not expected to live long enough to go to school, because the treatments were very limited.
He is now one of the oldest people with CF in Australia and has packed much into those years. Last year, Mr Messer was honoured as West Australian of the Year in the community category for his leadership and achievements.
His parents, who lost two sons to CF, were among the founders of CFWA more than 50 years ago.
Following in their path, Mr Messer took on leadership roles within CFWA and the national group Cystic Fibrosis Australia, driving advocacy, research and clinical trial efforts.
His day job is working at The Kids Research Institute as a community involvement coordinator, which is a good fit for his voluntary work with CF.
Mr Messer said the recent State Government funding would help to speed progress so people with CF could plan their lives without the constant shadow of the condition hanging over their heads.
A few years ago Mr Messer was facing the prospect of needing a lung transplant when the drug Trikafta came along, which he credits for saving his life, giving him more energy and improving his lung function.
While he still needs treatment for chest infections, takes medication daily and his lungs are still damaged, the rate of it advancing has slowed.
He told Medical Forum that his health had significantly improved since he started taking Trikafta about four years ago.
“I was looking at having a lung transplant probably within a year or two, and now they’ve told me they will give me a call in a year to see how I’m going,” he said.
“It’s great than I can get on with my life these days, but like all new drugs they don’t work for everyone, and they can cause issues.”
Mr Messer said modulators did not stop someone having CF, but helped their body to function much closer to how it should.
“And that’s especially good for young people because they haven’t had the damage caused by CF yet so it will keep them healthy,” he said.
“But we still need to understand what happens to older people like me, or those in their 30s and 40s who’ve got residual damage that’s been caused by CF. While these drugs slow it down, they’re not going to stop it because the damage has already been done.”
Learning to live in a new body
Mr Messer said the modulators could take some getting used to as they can affect the presentation of symptoms.
“I know when I’m unwell now, but the symptoms are different to when I was unwell before I started the treatment, so it’s harder to recognise when you’re having an exacerbation,” he said.
“In the old days you would cough a lot more and cough a lot more gunk up, but because the drugs are stopping that cycle, it sort of sneaks up on you – you start getting a bit tired and breathless and realise you’re actually unwell, so you’re sort of learning how to live in a new body.”
Mr Messer said the risk of infection was always looming over people with CF, and with antimicrobial resistance it was getting harder to get antibiotics that could treat all the bugs.
That meant researchers needed to find new ways to treat infections using options such as phage therapy, which enlists viruses to kill bacterial infections.
Mr Messer said that while better drug treatments had resulted in less in-patient care, it had in turn increased the need for more care on an outpatient basis.
Sir Charles Gairdner Hospital houses WA’s adult CF centre, with a multidisciplinary team including CF doctors, nurses, physiotherapists, dieticians, pharmacists and a social worker. It also liaises with the paediatric CF team at Perth Children’s Hospital, helping patients transition to the adult unit.
Mr Messer said it needed to be able to provide comprehensive care to meet the complex healthcare needs of adults with CF.
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“The treatment model is shifting, and we’re talking to the State Government to say that we need to ensure the facility that provides that outpatient care, the CF clinic, is actually fit for purpose,” he said.
“It was developed in the 1990s and the number of people with CF going to the hospital was about 100, whereas we now have well over 200 people with CF going there.
“But it hasn’t really kept pace, so it’s not up to standard and we’re saying you will lose the benefits that have been achieved if we don’t keep the standards and services, and we don’t have that in WA.
“That will require extra funding. If you don’t provide good care there’s no point in providing people with new drugs because they will end up being unwell because they couldn’t get access to an appropriate facility, and then the only way is to go into hospital as an in-patient which is much more expensive.”
Lisa Bayakly, chief executive of CFWA, the peak advocacy group in the State, agreed that the course of CF had changed and needed to be factored into the health services required.
“We’ve been funding research for about 30 years and a lot of the earlier work was around how we treat the inflammation in the lungs, treating infections to extend life, and what sort of exercise and physio people should be doing to stay healthy and alive as long as possible,” she said.
“And now people are living longer with the new treatments and new modulator therapy, it’s very much about how we improve the quality of that life and deal with some of the complications that CF adds to a person’s daily load.
“The focus has shifted from keeping people alive to helping them live as healthy as possible. One of the fears people still have is getting a resistant infection, or if they’ve already got resistant infection that it exacerbates and becomes problematic and leads to long hospital stays.
“We still need to look at how we better prevent that, and how we know quickly when someone is at risk, but we also need other options, things like bacterial phages.”
Ms Bayakly told Medical Forum another concern was that as people with CF age, they become more prone to other conditions.
“For example, we have CF-related diabetes, which is a whole other form of diabetes, presenting differently to other forms,” she said.
“What it means is that people are living with two chronic conditions. It’s related to how CF affects the function of the pancreas.
“There is also a high prevalence of liver disease in the CF community, as the CF takes its toll on the liver over time, with successive medications. And unfortunately, having advanced liver disease can make people with CF ineligible for some of the more contemporary gold standard treatments.
“We’re currently funding some research to better understand liver disease because historically a lot of the research has been focussed on the lungs.
“The liver is not well-studied, nor is the CF-related diabetes, and with new treatments people are also having babies, so we need to better understand fertility and the impact of medications on the child.”
The cardiovascular health of people with CF also needed attention because the legacy CF diet was a high fat diet to help the pancreas function, she explained.
“In many people on the new treatments the pancreas function might not be returning to normal but it is improving, so now there are concerns about the potential impact on their cardiovascular health,” she said.
“We’re also conscious that there are some people who aren’t eligible to take the new modulator therapy, or they’ve had to come off them because they can’t tolerate them, so we have to keep progressing alternatives.
“At CFWA we support babies through to those in their early 60s who would have had one or more organ transplants.
“And we’ve had some people diagnosed later in life as adults. Obviously, it is genetic so you are born with it, but some only get a diagnosis as adults.”
Outpatient care vital
Ms Bayakly says that our healthcare system must adapt to change, with the CF adult population growing 20% in three years and set to continue on that trajectory.
“With less people being in-patient, some of that funding needs to be redirected to outpatient clinic because it’s so important to keep on top of the disease and it can be quite harmful to pick up an infection and not get onto it quickly.
“Preventative care is vital, and we’re in discussion with the State Government about the need for a redevelopment or expanded CF clinic.
“Every part of the health ecosystem which is supporting individuals is affected by the dramatic changes we’ve seen, but where it probably needs to change the most is in the adult outpatient care because that’s where the numbers are growing so dramatically.
“The clinic is under a lot of pressure, and something needs to change.”
For more information visit www.cysticfibrosis.org.au
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