‘This will change lives unbelievably’
Funding for a drug to help fight a cruel disease is needed in New Zealand, writes Imogen Neale.
A $1 million wonder drug is being labelled as a ‘‘game changer’’ for the treatment of a disease charged with being the leading genetic cause of infant and toddler deaths.
Spinal muscular atrophy (SMA) is a cruel degenerative disease that robs muscles of their ability to function. Babies with SMA type 1 often can not roll over, sit up, swallow or reach out for a toy.
The orphan disease is thought to affect around 100 New Zealanders.
Until now it has been untreatable but Muscular Dystrophy New Zealand chief executive Ronelle Baker said a new treatment called Spinraza is ‘‘an absolute game changer’’.
‘‘This is the first established treatment for spinal muscular atrophy and has demonstrated powerful effects for young children especially.
‘‘It is one of the most exciting breakthroughs in the field of neuro-genetic diseases.’’
Baker said an infant with SMA type 1 would not be expected to live past their second birthday.
‘‘As you can imagine, this is a devastating experience for families,’’ Baker said.
‘‘They are bright, intelligent children with huge potential. This treatment is the difference between life and death for these children.’’
Aucklander Fiona Tolich has SMA type 3. She said the disease has historically been described as like being in the mafia: once you’re in, there is no getting out.
‘‘I, for one, plan on getting us all out.’’
For 37-year-old Tolich, the symptoms were subtle. She’d never been able to stand up without pushing down on something, and occasionally her knees buckled.
But she’d played a lot of sport at school, and had knee surgery, so she didn’t expect them to be perfect.
It wasn’t until her knees started doing it while she held her newborn son, Ryker, that she decided it was time to ask some questions.
This month, Pharmac’s rare disorders subcommittee will hold its inaugural meeting and consider funding for 13 applications. Biogen’s Spinraza is one of them.
In August, the treatment was reviewed and registered by Medsafe.
Pharmac director of operations Lisa Williams said after considering the applications, the subcommittee will make recommendations to Pharmac about whether the treatments should be funded.
Biogen said Spinraza is administered via a lumbar puncture into fluid around the spinal cord to regulate the expression of the SMN gene and stimulate protein production ‘‘critical to the function of muscles that enable movement, speech, breathing and swallowing’’.
Tolich said she has seen the difference Spinraza makes to SMA patients. Earlier this year she attended the Cure SMA Conference in Texas.
‘‘I met a lady who was able to ditch her wheelchair for a cane . . . another lady who could hold a glass cup in her hand as opposed to just barely being able to reposition a plastic straw.’’
In a letter to Pharmac, Tolich said it is crucial that Spinraza is funded for Kiwis.
‘‘Every day waiting for access to treatment is a motor neurone lost and potential life expectancy reduced. I beg you to allow us access to treatment here.’’
Spinraza was approved by the US Food and Drug Administration in December 2016 and parts of Europe in 2017. This year the Australian Government announced it would cover the treatment for SMA patients under 18.
SMA Australia’s chief executive Julie Cini said the treatment’s retail cost is US$750,000 (NZ$1.14 million) for the first year and then AU$125,000 (NZ$135,000) per injection.
The first year involves six loading doses followed by fourmonthly injections.
Cini, who has lost two children to SMA type 1, cannot believe what babies on the treatment are able to achieve.
‘‘They’re doing things like sitting up, drinking from a cup, rolling over . . . they’re reaching milestones children with SMA type 1 can’t reach.’’
She said the treatment gives families more time with their children – and not just time, quality of life.
‘‘This will change people’s lives unbelievably.’’
The 2015 Fetal and Infant Deaths data is due to be released in December, however, a Ministry of Health spokesman confirmed that in 2015 three babies had died from SMA.
This treatment is the difference between life and death for these children. Ronelle Baker