Sunshine Coast toddler Layla Christiansen becomes first Qld patient to receive new spinal muscular atrophy treatment

When Layla Christiansen was diagnosed with spinal muscular atrophy, her mum was told she would likely never walk. But a groundbreaking treatment is turning her life around.

Queensland families fighting a rare debilitating disorder will no longer have to travel interstate for a groundbreaking treatment, after a Sunshine Coast toddler became the first patient in the state to receive the gene therapy treatment.

Six-month-old Layla Christiansen was diagnosed in February with spinal muscular atrophy (SMA), which damages motor neurons in the spinal cord – affecting the body’s ability to move, breath, cough and swallow.

About one in 10,000 Australian children is affected.

Untreated SMA is the No.1 genetic cause of death for children under two. However, there are three treatments available in Queensland.

The newest one is a gene therapy known as Zolgensma, which replaces the function of the missing or non-functioning SMN1 gene.

Zolgensma is a single intravenous dose, while the other treatments – Spinraza and Evrysdi – need to be taken for life.

Emily Collins with son Zander, 2, and six-month-old daughter Layla. Picture: Lachie Millard

In late March, Layla became the first patient in Queensland to receive Zolgensma, following a two-week stay at Queensland Children’s Hospital.

Nine other Queensland patients have already been treated with Zolgensma, but they had to travel to Sydney because QCH only became an accredited treatment centre in early March.

QCH consultant pediatric neurologist Dr Anita Cairns said before any SMA treatments were developed, babies with the condition would usually die before their first birthday.

“None of the treatments, including Zolgensma, can reverse the damage … those neurons have already died, but the ones that are still alive – that’s what it acts on,” Dr Collins said.

“Zolgensma is available for children up to nine months old – the other treatments can be used in children of all ages.”

Layla’s mum, Emily Collins, said a visit to her local doctor led to the SMA diagnosis.

She mentioned her concerns to the GP just before they left.

“She didn’t move as much in the womb, she wasn’t as active as her brother, but I put that down to her being a different child,” she said.

Emily Collins with six-month-old daughter Layla. Picture: Lachie Millard

“By week four, I thought something must be wrong because she wasn’t kicking, her hands were clasped and not opening and she wasn’t grabbing things like newborns do.”

After the diagnosis, Ms Collins was told Layla likely would never walk.

But following the Zolgensma treatment, Ms Collins said there have already been “so many positives”.

“She’s moving her head more and she can hold it up now,” she said.

“She’s grabbing on to things like toys, and she’s trying to roll over.

“When you hold her, she has that torso control and can hold herself up.

“She won’t get to 100 per cent activity like every other child, that’s just something that comes with SMA.

“I have no idea where she will get to, it is case-by-case. But I have hope.

“I’m just happy it (Zolgensma) came to Queensland … we don’t have to worry about constantly having to go back to hospital for those other treatments.

“We can go on with our lives and go on holiday if we want to, without having to worry about coming back for treatment.”

Layla Christensen is a groundbreaking patient for the Queensland Children’s Hospital. Picture: Lachie Millard.

Despite the SMA diagnosis, Ms Collins said her and her family “hit the jackpot” with Layla.

“She is an extremely happy child,” she said.

“She’s such an easygoing baby. She goes to sleep easily by herself.

“We kind of hit the jackpot with her in terms of who she is like.”

In May, the Queensland government announced the expansion of the Newborn Bloodspot Screening program to include SMA and severe combined immunodeficiency (SCID).

Dr Cairns said it was hoped this change meant children were diagnosed with SDA earlier and therefore had better outcomes with earlier treatment using Zolgensma.

“If people have concerns that their child is not doing the things they think they should be doing with their motor function, if they are not developing and hitting those normal milestones, they should see their GP because early diagnosis is important,” she said.

“Layla’s mum was very switched on and recognised the signs early and got her diagnosed; her parents were on the ball.”