Woonona girl Ruby McLean has been on Spinraza to treat the degenerative disease, spinal muscular atrophy, for over 12 months and her quality of life has improved considerably. Picture: Adam McLeanWhen Haley and Mitch McLean’s daughter Ruby was diagnosed with spinal muscular atrophy, they were told she wouldn’t make it to her third birthday.
Today they sayRuby, who will turn four this year, is exceeding all expectationsthanks to a life-changing drug that they have been able to access from the US supplierthanks to a compassionate scheme.
Outside of clinical trials, Ruby was just the second n child to get the drug through theextended access program.
The Woonona family has welcomed the news that the groundbreaking drug Spinraza, or nusinsersen, will be available to all n families from June 1, 2018 after it is listed on the Pharmaceutical Benefits Scheme.
The measure, to be included in Tuesday’s Federal budget,will see the price of a single script reduce from more than $165,000 to just$39.50.
“I just say ‘thank you’ to the n government –words can’t describe how much this will mean to so many families,” Mrs McLean said.
“Spinal muscular atrophy isn’t the most common condition, but for those who are affected it’s life-altering in every way.
“When we were given the diagnosis, there was no hope and that’s a horrible thing –this drug has given us hope back.
“However it’s out of the reach of most ns as in the first year children need to haveseven doses, which would cost around $1 million.
“We were so fortunate to be part of a compassionate scheme (from US drug company Biogen) and will now be able to roll over onto using the PBS for this incredible medication.”
Spinal muscular atrophy(SMA) is a rare genetic muscle wasting disease that is the childhood version of motor neurone disease.
The most severe formType 1 –which Ruby has –can cause respiratory problems, extreme weakness and early death.
Spinraza is the only effective treatment, and is administered through a lumbar puncture.
“Ruby started (on the drug) at Sydney children’s hospital last February, and her seventh dosage was last week,” Mrs McLean said.
“Straight away there was a dramatic leap forward. She’d not been able to hold her head up straight which had affected her posture, meant she could not sit unaided and had very little movement as she was off balance.
“It allowed her to hold her head up straight which made a massive difference. It also allowed her to do many other things that people take for granted –such as being able to hold a Barbie doll.”
Ruby with her parents, and younger brother Henry. Picture: Adam McLean
After a bit of a plateau, there has been another “leap forward” in Ruby’s condition.
“Ruby is weak, respiratory wise but she’s recently been able to hold her breath for longer, so she’s been able to swim underwater,” Mrs McLean said.
“She’d also been fed through a PEG tube as she couldn’t swallow, but now she’s halfPEG fed and half fed orally which means she can join us for dinner.”
Spinraza is a treatment, not cure. However Mrs McLean said: “It’s about quality, not quantity –and this is her best chance at quality of life”.
The drug is the first treatment to ever be listed on the PBSfor the treatment of paediatric patients with infantile-onset or childhood-onset of SMA.
Spinal Muscular Atrophy CEOJulie Cini has welcomed the Federal budget measure.The independent Pharmaceutical Benefits Advisory Committee recommended the listing in April 2018 after rejecting it in 2017.
“After 14 years of supporting and advocating for families, we are delighted that families can have access to treatment here in without having to seek treatment overseas,” Ms Cini said.