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A new drug, yet to be approved by the Therapeutic Goods Administration, is giving a small group of chronic Cystic Fibrosis (CF) patients at Mater a second chance at life.
More than 3500 Australians live with CF, a life-limiting genetic disorder that mainly affects the lungs and digestive system.
A team of Mater clinicians have successfully applied for 11 critically ill Mater CF patients, who have failed existing treatment, to access the drug Trikaftor, under a compassionate program.
Twenty-two year old Joey Cummins is one of these fortunate patients.
One of eight siblings, Joey is the youngest brother of Australian Rugby Union great Nick Cummins, known as The Honey Badger. Joey’s sister Elizabeth also suffers from CF.
Joey spent much of his childhood in and out of Mater Children’s Hospital and has always struggled to maintain a healthy lung function and gain weight.
“I missed out on a lot of school growing up as there wasn’t much time between hospital admissions,” Joey said.
“In 2015 I received a major setback when I caught the flu. My lung function went down to 20 per cent and I was in hospital at the Mater Young Adult Health Centre Brisbane for a month.
“It was then that I was talking to medical teams about a lung transplant as it seemed like my only option.”
When Joey was given the news that he could access Trikaftor, he was thrilled to have another treatment option.
He said he never expected such a marked improvement to his overall health in as little as a couple of days.
“This is the best treatment I have ever had. I’ve gone from a lung function of 36 per cent to 46 per cent which makes an incredible difference.
“While I have treatment each day, I can lead a normal life. I can go for a walk and not be fatigued and I’ve managed to put on four kilograms in only four weeks,” he said.
Joey has never been able to work due to his illness, however with this drug, he said it was changing the course of his future.
“I’m now looking for a job and I’m considering further study as I know that I’m physically up for this now and so far it’s not looking like I’ll need to go to hospital anytime soon,” he said.
Mater’s Director of Cystic Fibrosis Dr Lucy Burr said the results of this drug for patients with chronic CF were remarkable.
“Patients are noticing benefits within only days of starting the drug. We are seeing dramatic, early changes in lung function and patients are reporting significant improvements in their breathing and digestion.”
“For patients like Joey, with such a low lung function, and who has exhausted all available treatments, there are limited options apart from going on the lung transplant list,” Dr Burr said.
The drug was recently approved in the United States of America and Dr Burr hoped it too would get the green light in Australia in a couple of years.
“Trikaftor helps improve the function of the protein made by the mutated F508 gene which 90 per cent of CF patients carry. This drug could potentially treat all of these people.
“Following a lengthy application process, we were able to access the drug for a small cohort of critically ill Mater patients who met strict criteria including having lung function less than 40 per cent, specific gene mutations and not having any other treatments available to them.
“This follows two clinical trials of the drug, conducted at Mater, where patients achieved around 10 per cent improvement in lung function—a significant result leading to associated improvements in symptoms.
“This is an exciting time for CF patients.”
For other CF patients, like Joey’s sister Elizabeth, he hoped it wasn’t a long wait for the drug to be approved in Australia.
“I feel so fortunate to be on this drug and I look forward to the day that my sister and many more people with CF can access it and experience the amazing benefits like I am.
“I want to thank Dr Burr and the team at Mater for making this happen.”
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