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SMA Australia

SMA AUSTRALIA

Phone: (03) 9796 5744

2018 04 rickards

Six-year-old Violet Rickard sometimes asks her mother if she’s going to die.

She also wonders why she can no longer take the lids off her Textas so she can colour with her friends, raise her eyebrows, or simply itch her own feet.

For Anna, 36, her daughter’s questions are heartbreakingly difficult to answer.

Violet suffers from the genetic condition Spinal Muscular Atrophy (SMA). And while a new drug which could stop its progression is now available, it is out of reach because it costs $125,000 a dose.

“I try to be honest with her without taking away hope, but unless she gets this treatment there is no hope,” said Mrs Rickard, who is from northern NSW.

“I say ‘the SMA will change your body over time and it will be weaker. I’m going to be here with you and I’m going to make sure you never feel scared.”

Charity body, SMA Australia, has taken the battle to get the drug, called Nusinersen and marketed as Spinraza, on the Pharmaceutical Benefits Scheme (PBS) which would make it available to around 600 families in Australia, to Canberra today.

Sufferers have previously faced a bleak outlook as their muscles, including those needed to breathe and swallow, gradually waste away.

Previously, patients were sent home from hospital with no treatment or cure.

But according to drug company Biogen in published reports on its website, trials of Spinraza have stabilized and improved motor function, even allowing children to crawl or stand again.

Mrs Rickard said getting it for Violet, would be “the biggest thing that ever happened to us”, comparing the treatment to chemotherapy for cancer.

Mrs Rickard, an occupational therapist, said the hardest thing is seeing her daughter losing the ability to do simple things.

“What she can do one day she can’t do the next, said Mrs Rickard.

“This time last year she used to be able to stand for about 10 seconds with me holding onto her, which meant things like going to the toilet was easier,” said Mrs Rickard.

“She used to be able to open Texta lids by herself but now she can’t do that.

“She used to be very good at swimming but with the degeneration it’s now very difficult.

“She used to be able to when she was lying down lift her foot to itch it but she can’t do that anymore.

“Even just being able to attend school full time. She goes part time but has to have days of rest because she gets so tired.

“This drug would stop that degeneration.

“We would be very hopeful, from the studies and the other children, that she would actually make some improvements as well.

“Children on the treatments are walking, dressing themselves, there’s even one with another type of SMA who is skiing.

“She’s not predicted to live beyond her 20s or 30s, and this drug would mean she potentially could achieve a normal lifespan.

“To not to be able to access it is very heartbreaking and cruel.”

SMA is similar to motor neurone disease in adults; one type of the disease is the biggest killer of babies under two in Australia, while sufferers of other types face an uncertain lifespan.

The schoolgirl from Alstonville was diagnosed with SMA type two - there are three types with type one the most severe - just before her second birthday.

She had seemed to progress normally until she was about nine months old, when she started to get weaker.

Mrs Rickard, who also has children Lola, eight, Eddie, two and Tom, ten weeks with husband Ben, 38, a doctor, said the family is exploring the option of borrowing money to start paying for the drug themselves while they wait for news.

It would need to be injected into Violet’s spine four times a year.

Charity, SMA Australia CEO Julie Cini said the drug, approved in Australia since November 2017, was not recommended for PBS inclusion in December.

A separate decision will be made next month on if it can be accessed for patients with SMA type one.

But the charity is demanding it be available for patients with all forms of the disease.

“We are working so hard for these families to have access as the treatment has an amazing impact on not only their everyday living skills but their quality of life,” said Ms Cini.

“It could mean the difference between life and death for some families so the sooner we gain access to the treatment, the better outcomes for people living with SMA every day.”

Families helped present a petition to Health Minister Greg Hunt and Minister for Holt, Anthony Byrne.

Drug maker Biogen did not comment when approached by nine.com.au, but says on its website: “Biogen is very aware of the need for a treatment to become available to the Spinal Muscular Atrophy community as soon as possible and is making every effort to ensure that all patients who need access to Spinraza will have the opportunity.”

A spokesman for Mr Hunt said the minister backs the drug’s funding.

“Minister Hunt is strongly supportive of the listing of Spinraza and can guarantee that if the independent Pharmaceutical Benefits Advisory Committee (PBAC) recommends it, the Government will list it.

"Under legislation made by the Australian Parliament, the Government can’t include a new drug on the PBS unless it has first been recommended by the independent PBAC,” he said.

Reprinted from Nine Digital Pty Ltd 2018