Desperately ill and getting sicker every day, Jess Ragusa just wanted to die. Born with cystic fibrosis (CF), and ravaged by a rampant lung infection, life seemed to have become a hopeless battle.
“I remember telling my mum and dad that I didn’t want to kill myself, but I didn’t want to be alive,” Jess sadly recalls. “Everything was too hard. Waking up and doing life shouldn’t be so hard.”
That conversation broke mother Kellie McNamara’s heart. It was bad enough watching her cherished daughter fade away. But seeing her lose the will to survive, coughing up blood and struggling to breathe, was even worse. Even more so was knowing that a breakthrough cystic fibrosis treatment called Trikafta could save Jess but would cost the family a staggering $250,000 per year because it was not yet subsidised by Australia’s Pharmaceutical Benefits Scheme (PBS).
Remarkably, Kellie and husband Mark, who are not wealthy people, decided to remortgage their seaside home on NSW’s Central Coast to pay for the transformative drug that would set them back $21,375 a month.
“I’d rather lose my house than my daughter,” 51-year-old Kellie says today, convinced the couple’s life-or-death choice was no choice at all. “We thought, ‘What was the point in having a beautiful house if we didn’t have Jess?’ That’s why we made the sacrifice to do whatever we had to do to keep her alive.”
The McNamaras managed to borrow enough to buy Trikafta for nine months. No more, no less. “We had a deadline,” laughs Jess, now 29 and a vibrant, healthy mother of two little boys. “I had to get better or send my parents broke and die at the same time. No pressure!”
Three years down the track the family is still repaying the loan but considers it money well spent. What’s more, their gritty determination helped push the government to include this life-changing “miracle” modulator on PBS for the first time.
Initially, subsidised Trikafta could only be accessed by those aged 12 and above, like Jess. But very recently it also became available to younger CF patients aged two years plus, at a cost of just $7.70 per prescription with a concession card.
“This is one of the greatest milestones we have ever seen in CF treatment,” reveals Professor Adam Jaffé, a world-renowned respiratory paediatrician who has spent more than 30 years caring for kids with the incurable genetic condition.
“It’s truly wonderful to see so many lives positively impacted by Trikafta. I’m delighted to share such a good news story,” says the University of NSW child health specialist. “The tears of sadness we used to have in our clinic when outcomes were pretty pessimistic, have turned to tears of joy and happiness.”
The McNamara family’s heartening story is a case in point. When newborn Jess was first diagnosed with CF, through a heel prick test, her devastated parents discovered the outlook was bleak. “I’d never heard of cystic fibrosis,” Kellie sadly remembers. “The scariest thing was that we’d just had our first baby and didn’t know anything about this disease. By the look on the doctors’ faces, it obviously wasn’t a good thing.
“They gave us a book that said our child would die at around six months old, but it turned out to be the wrong book,” she says, still incredulous. “Then we were told Jess wouldn’t survive into her teens, or something similarly horrific.
“I still remember grabbing hold of her in the surgery. I wouldn’t let her go for days. I felt I was losing her already with that diagnosis.”
Luckily, Jess stayed pretty fit throughout childhood, rough-housing with younger brother Jai. Medication, physiotherapy, a special diet, regular check-ups, daily ocean swims and plenty of fresh air all combined to stave off the worst CF symptoms.
But at 18, she caught a near-fatal superbug that threatened to end her too-short life. Kellie explains, “You could see Jess going downhill fast. She was rushed to hospital and the doctors said she would probably only last another six months … ”
Her voice falters. “She’s almost 30 now, but I still get upset talking about it. We’d been given this death sentence, and we didn’t know what to do about it.
“Over the next few years, Jess was really sick. Her body was changing, her colour was changing, her energy level was decreasing, and her lung function kept plummeting. She said she was tired and just didn’t want to be alive anymore.”
Fast forward painful years as Jess’s condition steadily worsened. “It was so hard. Trying to keep well was killing me at the same time,” she says. “My mental health was falling apart too.”
Hearing about Trikafta’s extraordinary results, Kellie and Mark, 63, vowed to do whatever it took to get the drug for their beloved daughter. Borrow against their Copacabana house? No problem.
“Obviously, $21,375 a month is a lot,” smiles Kellie, CEO of a not-for-profit family and children’s services organisation. “The benefit of COVID — and there weren’t many — is that house prices went up, so we were able to use that equity in our home to get a second mortgage.”
“This is one of the greatest milestones we have ever seen in CF treatment.”
Professor Adam Jaffé
Trikafta was so eye-wateringly expensive the manufacturer insisted they pay every month in advance before supplying their local pharmacy. But the McNamaras’ death-defying gamble paid off.
Within three days of her first dose of Trikafta towards the end of 2021, Jess stopped coughing blood. Her lung function, which had dived to 50 per cent, went back up to 84 per cent.
Six months later the drug was placed on the PBS for patients aged 12 and above due, in part, to the McNamara family’s ardent advocacy and a petition to Parliament from Cystic Fibrosis Australia.
What’s more, Jess became pregnant naturally, following two years of fertility and IVF struggles, within weeks of starting to take Trikafta. The birth of babies Cooper and Kodi, now aged 22 months and 12 weeks, at last achieved her dream of starting a family with builder husband James Ragusa, 30.
“Medical professionals say pregnancy is a side effect of Trikafta, and let me tell you it’s the best side effect ever,” jokes Jess, cuddling up to her beautiful boys at home in Saratoga on NSW’s Central Coast. “All these babies are a great first-time statistic for CF-ers like me. I’m really thankful to Cystic Fibrosis Australia for everything they do.”
The future looks increasingly bright, according to Sydney Children’s Hospital consultant Professor Jaffé. “This used to be a disease where I was very experienced managing end of life for children with CF. It was one of those things we had to be good at.
“So if I say that in the past 18 years, I have only experienced one death — about a decade ago — because of the latest advances in treatment, it shows how the face of CF has completely changed.
“Meeting parents whose baby has just been diagnosed, many years ago those conversations would have been pretty pessimistic because the average age of survival was in the 30s.
“But the discussions we have now are completely different. It’s optimistic, around the vision we have that children born with CF today will live to old age and die of old age and just take a couple of tablets a day.
“While we haven’t cured CF, these new modulators are game-changers. Ultimately, we know lung damage begins within the first few months after birth in babies with CF. The aim is to prevent this damage by starting treatment earlier.
“The recent availability of Trikafta in children from two years old means it has the potential to reduce lung damage and have a lifelong effect, improving morbidity and mortality.”
That promise has sustained parents Ashley Hayes, 37, and Luke Goldman, 39, since their son, Heath, was diagnosed with CF after his birth in February 2020.
“He got really sick 22 hours afterwards,” his mother explains emotionally from Sydney’s beachside Manly. “We were first-time parents, so we didn’t really know what to expect. But he wasn’t feeding and had a really big tummy. We knew something wasn’t right.”
Rushed to ICU at Sydney Children’s Hospital, day-old Heath went straight into surgery to remove part of his bowel. That’s when CF was mentioned to the already shell-shocked couple.
“We didn’t know what to do and stupidly Googled it,” says businesswoman Ashley, also mum to IVF son Reid, aged two. “What we found was a lot of outdated information about the life expectancy of children with CF. It was a very intense experience, not something I’d wish on any parents, let alone new parents.”
But their outlook changed dramatically when they met Professor Jaffé and his team at the Children’s Hospital at Randwick. “It was very, very dark until then, but suddenly we felt everything was going to be okay.
“The first thing Adam said was, ‘Let me un-Google you!’ He told us the future was bright, that the internet just couldn’t keep up with all the CF research and development going on.
“The goal was to keep Heath as healthy as we could until Trikafta became available through the PBS,” says Ashley. “Every time he got sick, like a cough or a cold, we would hold our breath.
“I think he had six or seven general anaesthetics, seven full admissions and 60-plus days in hospital in his first three-and-a-half years. Of course, you worry, but I feel very, very lucky to live in a country that has some of the best, most affordable paediatric care in the world.”
Heath started taking Trikafta only weeks ago, once it became available to his age group through the PBS in August. “We’ll see how he goes. It absolutely blows my mind that the medication costs a quarter of a million dollars a year,” marvels Ashley. “I told Heath his first week of treatment was worth more than Mummy’s first car!”
Unfortunately, recent data suggests Trikafta is unsuitable for up to 26 per cent of CF children with specific gene mutations or co-existing medical conditions. “It’s a huge win for the majority, but we are hugely aware of those people who aren’t eligible,” stresses Bianca Ferrari, 37, Director of Fundraising, Marketing and Community at Cystic Fibrosis Australia.
“We don’t want to leave them behind. We’re constantly doing what we can for them behind the scenes and there’s always new research going on.”
Optimism is alive and well in Australia’s inspiring CF community. As Ashley says, “We’re really hopeful, and that’s all we ever wanted.
“So many mums and dads fought and paved the way for us to be here today, not without pain and sacrifice and loss. I will always be grateful to them. We never take it for granted that we had Heath at the right time to benefit from Trikafta.”
Related stories
Native ad body.
What you need to know about migraines
Native ad body.
