A lifesaving drug is now available to Australian children.
For 14 years, Julie Cini has worked to save other children from dying from the condition that killed her daughters, Montanna and Zarlee. This week, she finally achieved her dream.
“Basically, they told me, ‘There’s no cure, there’s no treatment for this. You’ve got 12 months with your daughter. Take her home and love her.’ Nothing they could do.
“I was a first-time parent, she was my first daughter, I knew nothing else. I had this beautiful sweet little child and my world was just turned upside down. This precious little thing was going to die before my eyes.”
Six weeks after Montana died, Cini started SMA Australia. And today, at last, her hard work has seen the price of a life-saving drug slashed by hundreds of thousands of dollars a year.
“My partner at the time and I knew we wanted to support other families,” she explains. “12 months after that, I got pregnant again with my second child. When I was 13 weeks pregnant, my partner was killed in a car accident. Subsequently, my second daughter was diagnosed with SMA and died 12 months later. So I lost the three of them in two-and-a-half years, but I wanted to continue supporting other families.”
SMA is a genetic muscle-wasting disease, the childhood version of motor neurone disease. It has four types. Children with the most severe type, type 1, usually die before their first birthday.
Parents generally see the signs in their babies’ first three months, when they’re not reaching any milestones.
“They can’t lift their head up, they’re really quiet, they have a weakened cough,” Cini explains.
Recently, the pharmaceutical company Biogen developed the drug Spinraza to treat SMA. But the cost of treatment is hundreds of thousands of dollars a year. Cini says that Biogen has been providing Spinraza for the past 18 months free of charge to children with type 1 SMA, “so that they could stay alive till it got funded through the PBS [Pharmacetical Benefits Scheme]”.