Woonona’s Ruby McLean is the second Australian child with a rare muscle-wasting disease to get access to a life-changing drug on compassionate grounds.
While there are clinical trials underway into the use of nusinersen to treat spinal muscular atrophy (SMA) in this country, in February Ruby was the second to get the drug through an extended access program.
The program means Ruby’s parents – Haley Simpson and Mitch McLean – are able to get one of the most expensive treatments in the world for free from the drug’s supplier Biogen.
The drug – approved for use for SMA patients in the US but not yet in Australia – comes with a price tag of over $1 million for the first year of treatment.
Two-year-old Ruby has so far had four doses injected into her spine, and her parents reckon the result has meant its definitely worth more than its weight in gold.
‘’Our daughter doesn’t walk or crawl and never will – this condition affects her large muscle groups like her thighs, torso, neck, respiratory and digestive muscles,’’ Ms Simpson said.
‘’So head control has been a major thing, but since starting nusinersen treatment in February she has been turning her head more. We’ve also noticed she’s been able to grasp things with a stronger grip; she’s also been able to raise her arms in the air and sit unaided – things she couldn’t do before.
‘’How do you put into words how you feel to see your daughter do those things, that may seem insignificant to others but to us are just the most amazing things.’’
In a video compiled by the Sydney Children’s Hospital Foundation, Ruby’s neurologist Dr Hugo Sampaio explains how the drug works.
‘’This treatment is able to modify the course of the disease which is the first time we’ve been able to do that,’’ he said. ‘’What it does is it increases a protein which is important for motor neurons and this in turn translates to improved muscle strength and movement.’’
Nusinersen is not a cure for SMA, but Ms Simpson said it will be life-changing for Ruby and hopes it will slow the progression of the devastating degenerative disease.
‘’We know this is not going to drastically change the course of the condition – she’s not going to wake up one day and be able to run a marathon or even live a normal life,’’ Ms Simpson said.
‘’But it will give her a better quality of life – our ultimate goal is to see her happy, that’s what makes us happy.’’
Ruby was diagnosed with the inherited condition at just nine months old. A fundraiser for the specialised equipment she needs will be held at Beaches Hotel, Thirroul on August 12.