Felicity Brown was diagnosed with spinal muscular atrophy and can soon access Spinraza. (ABC Radio Darwin: Jesse Thompson)
Children with the rare muscle-wasting genetic disease spinal muscular atrophy (SMA) will from today have cheap access to a drug that has shown miraculous results among the few Australian children to have used it.
The ABC last month revealed that Nusinersen, marketed as Spinraza, will become available on the Pharmaceutical Benefits Scheme (PBS) for all SMA sufferers under the age of 18.
Just outside Katherine in the Northern Territory, the Brown family live on a large rural block close enough to drive into town but far enough out to have livestock and wide, open paddocks.
When their daughter Felicity was born it didn’t take them long to investigate warning signs.
“She wouldn’t bear weight on her legs and she wasn’t taking to standing up, whereas her older brother was pushing furniture around the house well before that stage,” Claire Brown said.
Felicity was two-and-a-half and had been misdiagnosed with cerebral palsy by the time a neurogeneticist diagnosed her with SMA, the most common genetic cause of infant deaths.
The Browns live on a rural lot near Katherine in the Northern Territory. (ABC Radio Darwin: Jesse Thompson)
The most severe form, type 1, has the earliest onset and causes extreme muscle weakness to the extent that key milestones — crawling, walking, playing with toys — fly by unmet, with many sufferers not living to see their second birthday.
Felicity, who will soon celebrate her ninth birthday, was diagnosed with type 2 SMA.
“When we received the diagnosis we were presented with a lot of different information about how she might deteriorate and what she might be required to do down the track, such as requiring ventilation during the day, having to be fed through a peg in her stomach and all these different things,” Ms Brown said.
The family’s house is filled with evidence of how they’ve accommodated Felicity’s condition: hospital baths, walkers and access ramps for the wheelchair she uses to move.
Felicity drives a motorised wheelchair. Her condition means she cannot currently stand or walk.
They wake up on school days shortly after 5:00am to embark on a long school commute that in the wet season involves several vehicles, two different wheelchairs and a tinny paddling over a floodway.
“The question was posed to us: ‘You might have to consider moving to a bigger urban centre’,” Ms Brown said.
While the family benefits from a strong network of local support, last month’s announcement means relocating is no longer on the table.
In coming months the Browns will travel to Sydney where Felicity will access Spinraza for the first time.
Medicine to cost just $40
Despite significant improvements among babies that have accessed Spinraza, the drug has until now remained out of reach for sufferers of SMA types 2 and 3.
It was made available to some type 1 sufferers on compassionate grounds, and led to one Darwin baby who could previously only move her eyes and fingers holding up her head and peering around autonomously.
Prior to Spinraza’s listing on the PBS, accessing it through regular means cost hundreds of thousands of dollars annually.
Now the medication, administered by a specialist into the spine, will cost just $40.
Families who previously had few options but to watch their children deteriorate were “ecstatic, elated and relieved” to hear the news, according to Julie Cini, the head of the support organisation Spinal Muscular Atrophy Australia.
Many were also surprised, because in the space of just several months the Pharmaceutical Benefits Advisory Committee went from rejecting Spinraza to recommending it be subsidised for types 1, 2 and 3a of the disease.
Ms Cini, who has campaigned for access to Spinraza since losing her own two children to SMA, said receiving the news was like finishing an ultra marathon.
“We had actually said at the stakeholder meeting that there are a lot of families who had type 1 children [who accessed Spinraza] who were now exceeding the milestones of the type 2 children,” she said.
“When you’re looking at everyday living skills like sitting, crawling, walking, feeding, [the PBAC] definitely saw that there was this urgent unmet need.”
Ms Cini believes the coming weeks and months may be the first time that Australian children with types 2 and 3 will have access to Spinraza.
The family home has been adapted to meet Felicity’s access requirements. (ABC Radio Darwin: Jesse Thompson)
Nervous wait for results
As hospitals prepare to start administering the drug, there will be a nervous wait for some to see whether it will reverse muscular deterioration or simply stop it.
Early intervention provides the greatest chances of improvement and a question mark hovers over what improvements it will bring for sufferers of type 2 and 3 whose onset is later.
“There might be a child with type 3 who’s starting to lose the ability to walk; he’s actually ambulant but he’s falling over a lot,” Ms Cini said.
“Hopefully it’s going to give them the ability to enable their strength to improve so they don’t fall over anymore.”
Felicity’s lower limbs are most affected by the disorder, but her upper limbs are weakening; she’s beginning to find dance challenging and her mum has to brush her hair.
While some of the uncertainty remains, the Browns are excited by the prospect of a more fulfilling life for their daughter.
“We’re not expecting Felicity will miraculously be able to stand up and walk around,” Ms Brown said.
“But we’re hoping the drug as least will be able to slow down the progression of her condition, or halt it ultimately.
“If there’s the return of some function that would just be a huge bonus for us.”