'We don't know how much longer we'll have her. But whatever it is, we'll take it'

The Tragedy of Baby Aviana: click here to read more

Bethan and Johnny McElwee sit cross-legged on the floor among reams of wrapping paper. Their daughter Aviana sits between them, far more interested in playing with the crumpled mass of pink paper than the gifts themselves.

It is Aviana's first birthday. Something Bethan and Johnny have only tentatively allowed themselves to imagine.

Johnny unwraps another gift. It's a pastel T-shirt too big for Aviana. He pauses. Checks the size on the tag.

"What do you reckon, Aviana?" Johnny says. "If you're still alive in a couple of years this'll fit."

Johnny is crackling with dark jokes today. His black humour has been a dependable coping mechanism he deploys often and to great effect.

A new mobile for Aviana's cot has caught his attention. It's a clanging contraption of plastic limbs that fan out like a mechanical octopus.

"It looks like something we'd use to bring her back to life," he says.

Jonny and Aviana play in her bedroom on her birthday in Darwin.

Johnny and Aviana play in her bedroom on her birthday in Darwin. Photo: Louise Kennerley

When Aviana was three months old she was diagnosed with spinal muscular atrophy type 1 (SMA1), the biggest genetic killer of infants. Every year in Australia roughly 30 babies are born with SMA, triggered by a mutation on their fifth chromosome that interrupts the production of a particular protein critical for muscle development.

Infants with SMA1 deteriorate rapidly, unable to crawl, roll over or turn their heads. Eventually they lose the ability to swallow and breathe.

For decades, parents with SMA1 babies were told to go home and love their children until they died. The average lifespan for a baby with SMA1 is nine months.

But over the past few months, Bethan and Johnny have allowed themselves to feel a cautious kind of optimism.

Aviana is not wasting away. She's growing stronger.

"We've always said we'll keep fighting, but at the same time we didn't want to have false hope and then have that all come crashing down," Bethan says.

"Then a few months ago, we were like, 'I think she's going to be fine. She's going to make it to her first birthday!"'

Aviana is in uncharted territory. She was the first baby in Australia and the ninth in the world to be treated at no cost with Nusinersen (Spinraza), a new treatment for SMA1, outside of a clinical trial through an extended access program (EAP).

This antisense drug interferes with the mutation's effect on motor neurones, boosting the level of SMN protein in the central nervous system.

"We know it's not a cure, but this drug is working for our daughter," Bethan says. "She's smashing it, and there is no doubt in our minds that this drug is keeping her alive.

"We don't know how much longer we'll have her. But whatever it is, we'll take it."

The Tragedy of Baby Aviana: click here to read more

Aviana's birthday

Bethan has decorated the void deck at their home in one of Darwin's northern suburbs with a magical menagerie of giant novelty balloon animals. Two giant unicorn heads flank the pool table.

The total cost of the party supplies is a wobbly figure, rising and falling depending on whether Johnny is in earshot.

"We might've gone a bit overboard," Bethan laughs.

A friend's mother has driven the 300 kilometres from Katherine with a two-tiered unicorn cake in the back of her car.

Johnny's mates bring a mobile brewery fitted to a trailer and a frozen margarita machine. All up, about 100 people come to celebrate much more than a birthday.

Bethan McElwee with her husband Johnny McElwee with Aviana and their niece at Aviana's first birthday party at their home in Darwin.

Bethan McElwee and her husband Johnny with Aviana and their niece at Aviana's first birthday party at their home in Darwin. Photo: Louise Kennerley

"Since the diagnosis it was horrible telling everyone the devastating news," Bethan says.

"To be able to give them some hope now and show them she's doing really well ... it is just so special to see friends and family all so overjoyed for her and for us.

"I don't think any other birthday will be able to compare."

A lively brood of babies crawl and waddle about on chubby little limbs, knocking into each other and vying for toys.

They are able to move in a way Aviana can't, developing at a rate she can't match.

But her remarkable progress is undeniable - she waves her hands in greeting, kicks her legs when she is excited, has a pincer-grip on her unicorn wand, and shakes her head from side to side in answer to every question.

"The natural course of a child [with SMA1] is certainly not this," Johnny says.

Many children with SMA aren't so lucky.

Bethan McElwee holds Aviana as she inspects her birthday decorations.

Bethan McElwee holds Aviana as she inspects her birthday decorations. Photo: Louise Kennerley

Political backing

As Bethan and Johnny celebrate, they are also preparing to join other families at a landmark event in Canberra to urge politicians to radically change Australia's approach to SMA.

SMA1 babies can access the treatment via drug manufacturer Biogen at no cost, but children with other SMA subtypes can't access the unapproved drug, which costs roughly $US125,000 per dose, and between $US650,000 (AU$850,000) and $750,000 ($A976,000) for one course of treatment - five to six doses over a year.

"We're riddled with guilt on a daily basis because we're getting a chance of life for Aviana with this treatment that many other families have missed out on," Bethan tells the gathering of SMA families, politicians and their staffers at Parliament House in early August, as Aviana gurgles in Johnny's arms at the back of the room.

Spearheaded by support and awareness group SMA Australia, families, SMA clinicians and researchers have three demands:

  • Subsidise preconception carrier screening so would-be parents can find out if they are at risk of having a baby with SMA;
  • Add SMA to the newborn screening program so the condition can be detected at birth;
  • List Nusinersen on the PBS so all families can access the treatment.

SMA Australia chief executive Julie Cini has devoted her life to supporting families of children with SMA since her daughters, Montana and Zarlee, died of SMA1 aged 10 and 12 months respectively over a decade ago.

"My biggest concern is to make sure the government knows what SMA is, because they really can do what needs to be done to make sure other families don't go through what I did," she said.

"We'll keep fighting until there is change in Australia for SMA."

Jonathan McElwee and Bethan McElwee with their 1-year-old daughter Aviana, who visited Parliament House in Canberra for a Spinal Muscular Atrophy Australia event, on Wednesday 16 August 2017.

Jonathan McElwee and Bethan McElwee with their one-year-old daughter Aviana, who visited Parliament House in Canberra for a Spinal Muscular Atrophy Australia event on August 16, 2017. Photo: Alex Ellinghausen

It's an exciting new era for SMA advancements, says Michelle Farrar, a paediatric neurologist at Sydney Children's Hospital.

Several clinical trials have shown nusinersen combats the effects of the condition.

"Infants may live substantially longer with treatment, and may have improvement in function and independence," Farrar says.

Few children have been on the drug for over two years, and uncertainties remain as to its long-term effects.

"[But] we can now imagine a future with the first therapies of SMA emerging, and huge implications for clinical care and research," she adds.

Nusinersen has now been approved in Japan and Canada as well as the European Union and the US.

The Therapeutics Goods Administration is currently considering an application from Biogen to approve or reject registration for the drug.

SMA advocates hope a PBS listing will follow, with political backing. The earliest the drug could be listed is April 2018.

"Having the drug on the PBS for every child with SMA would give everyone that little bit more of a chance ... a little bit more time to be a parent, which is a pretty amazing thing," Johnny says.

'I do daydream about what could be,' Bethan says.

"The thought that Aviana might still be here and maybe not start school, but maybe preschool ??? and use an electronic wheelchair to move herself around ??? it's just an amazing feeling for me."

It is easy to focus on the positives, Bethan says. "Until unexpectedly, it's not."

"I saw a little girl about five years old wobbling about on her bike down the footpath and I started crying because I imagine Avi at five.

"But there's no point getting upset. That's no life for her or for us. She wouldn't want us to be upset."

Rob Tait is the paediatrician who first told Bethan and Johnny their baby had SMA.

"I certainly didn't see her making it to 12 months old," he says. "But a week after Aviana's first birthday, we spotted Bethan at the horse races.

"I watched Bethan lift Aviana out of her pram and hold her on her hip.

"She was reaching out with her arms, she was showing muscle strength that I never thought she would have. It was such an incredible moment."

The paediatrician has seen the corrosive effects a child's terminal illness can have on parents' once strong and tender bonds.

"The uncompromising love and strength those two have for each other has been phenomenal to watch. They build up each other and I am in awe of them. It's something you can't assume," Tait says.

Taking in the sunsets

When yearly birthdays are a precarious possibility, every month is a celebration. And so every month since Aviana was born, the three McElwees make their way to Dripstone Cliffs overlooking Casuarina beach to watch the sunset.

"We have these monthly stickers we give her and we have a couple of beers or wine and cheese and crackers and we say 'Happy Month Birthday!'," Bethan says.

Bethan, Johhny McElwee watch the sun set at Dripstone Cliffs in Darwin on Aviana's first birthday.

Bethan and Johhny McElwee watch the sun set at Dripstone Cliffs in Darwin on Aviana's first birthday. Photo: Louise Kennerley

The sunset on Aviana's first birthday was a stunner. The dregs of the day are so often a forlorn omen. Not for the McElwees.

"People probably think we are sad a lot of the time but we're kind of really not, it does the opposite," Bethan says.

"If you have a family member with a terminal condition ??? you just kind of try to live life happily and appreciate all the time with them rather than mope about and be sad."

"In a way we're lucky we know we're on the clock, and we appreciate the time we have with her," Johnny says.

"A lot of families with SMA don't get that. We've met parents who get the diagnosis in the morning and by the afternoon they're in the ICU."

Newborn screening

Timely diagnosis is critical, not only to allow families to process their new reality, but to achieve better outcomes with treatment.

Nusinersen is most beneficial when started early, before symptoms emerge, Farrar says.

It's why SMA advocates are pushing for the condition to be added to the newborn screening program, the heel-prick test all newborn babies undergo.

It has been over 15 years since a condition was added to the newborn bloodspot screening program. But a national framework for newborn screening is currently being considered by the federal government's Standing Committee on Screening (SCoS).

The new framework is expected to be approved by the end of 2017, a spokeswoman for the Department of Health says. SMA Advocates are hopeful SMA will be added to the heel-prick test once the framework is in place.

'I don't know why, darling'

There is relief in knowing Aviana is too young to know she is sick. But the older she gets, the closer she comes to that realisation.

"I do get a bit panicky when I think about what to tell her, when, and how much," Bethan says.

"I don't know if that will ever be appropriate, to tell her she'll have a shorter life, but I do want her to know that she has been born with this condition and it's not fair.

"If she asks me why [she has SMA], I just think I would say to her: I don't know why, darling, I don't know why you have it. I wish you didn't but you do, and we're doing our best and you can still have a great life.

"I imagine myself talking to her a bit more openly and honestly rather than filling her head with stories," she says.

Bethan McElwee with Aviana at their home in Darwin.

Bethan McElwee with Aviana at their home in Darwin. Photo: Louise Kennerley

Johnny's content to let Aviana take the lead.

"Aviana has taught us how to be parents so far, so she'll just teach us how to do the rest as well ... we've just got to ride with it," he said. "And having Aviana for longer, we wouldn't change it for the world."

But the McElwees are adamant: no parent should be blindsided by the diagnosis as they were.

Reproductive choice

Roughly one in 40 people carry the SMA mutation. If both would-be parents are carriers, they have a one in four chance of having a baby with SMA.

The American College of Obstetricians and Gynaecologists recently recommended obstetricians, gynaecologists and other related healthcare providers offer pre-pregnancy carrier screening for genetic diseases to all patients.

"Amongst the heartbreak and devastation of SMA, I am saddest when parents tell me about how they prepared for a healthy child, had all the tests, didn't drink, didn't smoke and didn't know about preconception carrier screening," Farrar says.

It is important to at least give parents the option to get tested, so they can make informed reproductive choices, she says.

Parents may opt to undergo IVF to select an unaffected embryo.

Carrier testing for SMA and other rare genetic conditions costs between $350 and $1000. The tests are not routinely offered and few parents are aware of the conditions, let alone the tests.

"There is very little awareness around this kind of testing, and for lots of couples the amount of money they would need to fork out is a real challenge," says professor Monique Ryan, director of the department of neurology at the Royal Children's Hospital, Melbourne.

Advocates want the Australian government to consider subsidised population-based screening that would encompass a range of conditions.

"It would be expensive," Ryan says, "but the reality is we are only going to see more expensive drugs like nusinersen emerging for a range of conditions.

"The government will need to come to grips with the fact that it could be more cost-effective to fund carrier screening to prevent these conditions, rather than fund the drugs."

Professor Nigel Laing, laboratory head of Neurogenetic disease at the Harry Perkins Institute of Medical Research, says Australia needs to do the legwork to find out if population-based preconception carrier screening would be cost-effective.

"At this stage we really don't know because the research hasn't been done," he says.

Laing points to the pan-ethnic screening program in Israel, which tests for almost 100 recessive diseases among more than 60,000 people every year.

"It's about giving people reproductive choice," he says.

On the wall above Aviana's change table is a postcard-sized multi-coloured piece of graffiti art. On closer inspection, the text reads 'F---face'.

"It's kind of symbolic of how we process this whole mess. Life's bloody ridiculous, isn't it?" Johnny says. "You're born, you work, you joke around and you die without realising, what was all that?

"Because of Aviana, we're paying attention. Life's bloody bleak, but look at her. It's pretty bloody great too."

Bethan, Johnny and Aviana McElwee the morning after Aviana's first birthday party.

Bethan, Johnny and Aviana McElwee the morning after Aviana's first birthday party. Photo: Louise Kennerley

The story 'We don't know how much longer we'll have her. But whatever it is, we'll take it' first appeared on The Sydney Morning Herald.

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