"I have hope again," says Juanita Vernon as the 52-year-old tearfully discusses her feelings about being able to access incredibly costly medication that had drastically improved her quality of life.
Ms Vernon has the genetic condition spinal muscular atrophy (SMA) and was able to walk and live reasonably independently for much of her life, but a few years ago she started losing strength and mobility.
Simple tasks like washing her hair and eating with a knife and fork were becoming impossible until she started taking the drug Spinraza, also called Nusinersen, on her 51st birthday.
The medication, which increases the production of a certain protein, costs more than $1 million per patient in its first year, and has been available on the Pharmaceutical Benefits Scheme (PBS) for people under the age of 18 for about three years.
In March this year it was finally approved for adults after several submissions by the manufacturer.
The drug is expensive because of the high cost of trialling and manufacturing the precision medication.
"In those three years or four years, while we were waiting for it to get passed for adults, I was rapidly progressing and I was becoming more and more aware of my physical weakness, just feeling heavy all the time," Ms Vernon said.
"But I don't have any of that now."
After about a year of treatment, Ms Vernon — who had been given access to the drug on compassionate grounds — has regained some of her independence and can cut up her own food with a knife and fork.
The improvements might sound small, but they have been huge for Ms Vernon.
"I'm not struggling anymore with a lot of personal care," she said, adding that the approval of the drug for adults had given her hope for the future.
"There was still that uncertainty. So on the PBS, I'm reassured now that if things keep going the way they're going with Spinraza for me, I'm going to be OK."
'Success story' for SMA community
Seona Donald is a board member of advocacy organisation SMA Australia and the mother of a six-year-old girl with SMA type 1.
Her daughter, Matilda, would have died by the age of two without treatment, but thanks to taking Spinraza she is on her feet and in the classroom.
"And she's just had her sixth birthday in July. She's now at school, and she's walking," Ms Donald.
"It is an amazing drug. But the great thing is how it's helping adults.
"So there's nobody that's missing out, and that is just the most amazing success story achievement."
For adults, the drug is able to slow the progress of the disease and maintain whatever strength and function they have.
SMA Australia CEO Julie Cini said getting Spinraza approved for adults was a positive outcome for the whole community.
"We are super excited, and the community is super excited that now there's a treatment for everyone on the PBS", she said.
"So no matter what age you are, you can be eligible to have access to Spinraza."
Push by doctor helps obtain approval
Jo Watson from the Pharmaceutical Benefits Advisory Committee (PBAC) said the drug had been limited to children because there was not sufficient data to show improvements in adult patients.
"The times where the companies tried to get these things for the adults, and it hasn't been recommended, there's usually been problems with a couple of aspects," Ms Watson explained.
"There was much less evidence or clinical evidence for the use of Nusinersen in adults than there was for the young babies and young children.
"And because [the PBAC] has to make a recommendation based on both clinical effectiveness and cost effectiveness, the sponsor really struggled to have as much of that sort of proof as they had with the babies and the children."
The final decision to approve Spinraza for adults came after several submissions and thorough reporting by the doctors and patients, such as Ms Vernon, receiving it on a compassionate access program.
"It is such a good news story. It's been one of the most heartening applications to be involved with over all these years," Ms Watson said.
Professor Matthew Kiernan, neurologist at the University of Sydney, said it was the first therapy approved for adult patients with SMA.
"And I suppose it makes it more equitable. It's been obviously approved for younger patients, but this now ensures that people who are over the age of 19 can get access to the medication," he said.
Professor Kiernan was on the advisory committee responsible for providing the data to the PBS.
He said according to a study conducted in Europe, Spinraza could show improvements in 55-70 per cent of adult patients.
"It does seem to have benefit in terms of respiratory function, which is the critical issue for adult SMA patients, because that's usually [the central issue with] getting colds or flus in winter and respiratory failure," Professor Kiernan said.
"So this is showing some benefit. Maintaining at least that function, if not a slight improvement, is meaningful for adult SMA patients."
Now that Spinraza has been approved for adults, Professor Kiernan expects other medications, like oral drug Risdiplam, will follow.
Spinraza's long-term effectiveness in adults will be monitored by the treating neurologists and the information will be passed onto PBS in a bid to ensure ongoing support for the drug.
In a statement, a spokesperson from the Department of Health and Age Care said they were pleased to support the community by approving the life-changing medication.
"For the March 2022 meeting, comments from consumers and health professionals indicated that slowing disease progression and even small improvements in functioning were highly valued by adults who suffer from spinal muscular atrophy, as these outcomes may allow them to continue employment and maintain independence," the department said.
