“I told my kids when they died that I would fix it": This week Julie achieved her dream.

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.

Cini’s first daughter Montanna was diagnosed with spinal muscular atrophy (SMA) when she was just a baby. As she tells Mamamia, it was a “terrible prognosis”.

“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]”.

Deaths from SMA have dropped dramatically in Australia since Spinraza came along.

“You’re thinking, 24 to 30 kids we’ve not lost in the last two years. That’s a pretty cool result.”

Cini says she can’t believe her eyes when she sees kids with type 1 who have been treated with Spinraza.

“To see these kids sitting in a high chair, drinking from a cup and swinging their legs, reaching out for things, is just a phenomenon to me. Every time I talk about it, it sends shivers down my spine because I’ve seen what type 1 is. I’ve lived type 1 not once, but twice.”

She’ll never forget the first time she was able to tell a parent that there was a treatment available for SMA.

“It was the 12th of October, and this girl rang up and she said, ‘I don’t know what to do,’ and I said, ‘There’s actually a drug. Did you know?’ And she’s like, ‘No, I had no idea.’ It was the best moment of my life. I just got off the phone and I bawled my eyes out.”

SMA Australia has been working tirelessly to get the Government to list Spinraza on the Pharmaceutical Benefits Scheme. On Sunday, the news came through that they’d finally been successful.

The drug, which used to cost $125,000 a dose, will now cost parents just under $40 and it will be available to anyone under the age of 18 with type 1, 2 or 3a SMA. The announcement will be made in the Federal Budget tonight.

What the mother of a very sick child wants you to know: Sue Channon talks about what it is like to be a parent of a very sick child and what people can do to make life a little bit better. Post continues after audio.

Cini says there’s still more work to be done, such as raising awareness of genetic testing for SMA. People can find out before conception whether they’re carriers of SMA, along with two other genetic conditions, cystic fibrosis and fragile X.

But this is a proud moment for her, and a victory that she shares with Montanna and Zarlee.

“They have an amazing legacy of helping every other family. I’m so glad that I got to spend time and I’m so glad that they educated me to be selfless and give back to this community.

“I told my kids when they died that I would fix it. And when I get to see them at the end of the day, I can actually say to them, ‘I’ve fixed it.’”