Babies dying of Spinal Muscular Atrophy because Australia won’t spend $10 on test at birth

Australia funds a $2.1 million treatment for a rare genetic condition but not the test to diagnose it, leaving babies to die.

Exclusive: A simple $10 test at birth could have saved tiny Malikah Venamen’s life, allowing her to access a game-changing drug but she didn’t get it.

In an astounding anomaly, Australia has funded a $2.1 million drug — the world’s most expensive treatment — to cure her condition, Spinal Muscular Atrophy (SMA), but we don’t fund the test to diagnose it in the standard heel prick blood test at birth.

Unless babies get the one time genetic treatment within the first few weeks of life they will suffer permanent disabilities and many will pass away.

Before the new treatment was available, one baby would die each month from SMA.

Malikah passed away weeks before Christmas last year, just short of her first birthday.

And her mother Holly Morris vowed she would fight for change.

“It was my last promise to my daughter as she was fighting for her last breath of air, I told her ‘you can stop fighting because I will fight for you’,” said the 26-year-old mother from Victor Harbour in South Australia.

“That’s my promise, and that’s what I want to strive to do is to help other people and to help anyone, any other child like my daughter,” Ms Morris said.

Malikah passed away weeks before Christmas last year, just short of her first birthday. Picture: Supplied

Zolgensma, a one-time gene therapy, was added to the Pharmaceutical Benefit Scheme on May 1, making it affordable for families.

However, a $10 test that could prevent babies developing the devastating muscle wasting condition, spinal muscular atrophy (SMA), is only being funded in a pilot program by NSW and the ACT.

This week the Victorian government announced it is set to fund the test within 12 months but for those living in other states, a genetic test for the condition after birth costs an unaffordable $1000.

And for babies like Malikah, who didn’t get tested until she was five-and-a-half months old, the test is too late.

“Due to her being diagnosed so late, she was already deteriorated and she was too weak to receive Zolgensma,” Ms Morris said.

Last month the ALP promised $38.4 million to deliver a world’s best practice screening program for all of Australia, increasing the number of conditions screened for at birth to 80.

The Health Chief Executives Forum encouraged all states and territories to include SMA in their Newborn Bloodspot Screening Programs – over 16 months ago.

Julie Cini founded Spinal Muscular Atrophy Australia Inc. after losing both her children to the condition. Picture: Supplied

Chief executive and founder of SMA Australia Julie Cini, who lost two daughters Montana and Zali to the condition, said it was unfair access to the test depended on where you lived.

“If a baby with the condition is treated before it develops symptoms, they are likely to walk and they don’t need breathing and feeding support and studies show some of them may even have normal development,” she said.

And while the genetic treatment cost $2.5 million it was still far cheaper than the $20 million that would be spent otherwise.

“One of the other medicines is $120,000 an injection and you need four of those a year and over the lifetime of a child, 20 years, that is $20 million. If you think of putting one injection once at birth at 2.5 million is actually quite cost effective,” Ms Cini said.

“I’ve been working for 18 years, this has been a dream of mine since I lost my children. I promised them I would fix it, you know, for everyone else. I couldn’t fix it for them.”

A spokesman for Federal Health Minister Greg Hunt said: “Not only has the Morrison Government already established a process and dedicated funding mechanism for adding new conditions to the newborn screening programs, we have a plan for the future with Genomics Australia’s first priority looking at transitioning the newborn blood spot test to genomic sequencing”.

Originally published as Babies dying of Spinal Muscular Atrophy because Australia won’t spend $10 on test at birth