“As a parent, it’s heartbreaking knowing there is a treatment out there to help your baby but it’s not accessible here, and there is nothing we can do about it. Every day I watch her…. and I don’t know how long it will take for her mobility to go, but we know it’s going to happen.”

Zoey is a typical two-year-old.

On the day we meet her, she’s not sure if she likes our camera, and she makes it clear she would much rather play with her toys.

On most days, she is a plucky, happy child who loves to sing and dance, but she is losing her mobility and with it her ability to do what she loves most.

Zoey has Type 3 Spinal Muscular Atrophy (SMA) and although 75 New Zealanders have this genetic disorder, Pharmac doesn’t fund the drugs to treat the world’s biggest genetic killer of infants. There are three treatments available to treat SMA. Australia funds all three. New Zealand doesn’t fund one.

“I think it would be easier if SMA was untreatable. It is so much harder knowing there are drugs available, and I can’t get them for my daughter. That is really, really, hard.”

Chauntel is Zoey’s mum.  She says with the passing of every month, she notices her daughter is failing to meet milestones.

“I’m not proud of this but I sometimes feel resentful when I go to some of our mum’s groups. I try to put all of my energy into whatever I can do to fight this, but it’s hard when the other mums are celebrating how well their babies are doing, and I know my baby is going backwards.”

Spinal Muscular Atrophy (SMA) is a muscle wasting disease. Some children, with less severe forms of SMA will become wheelchair bound and suffer from challenging respiratory issues or scoliosis. Others will be fed through a tube after they lose the ability to swallow. Infants born with the most severe form of the disease will die within a matter of months.

“Some days I get really down about it. I can see that she is losing mobility, but she is still so happy and bubbly. But I know the disease is there.”

Spinal Muscular Atrophy has, reluctantly, become something of a poster child for New Zealand’s unfunded medicines crisis. In recent years, three treatments – Spinraza, Risdiplam and Zolgensma – have been developed to treat SMA.

Spinraza is publicly funded in 65 countries but, along with Risdiplam, it sits on Pharmac’s waiting list. The first application for funding was made in 2018, but it isn’t a priority.

Pharmac is mandated to get cheap medicines for as many people as possible, but SMA is considered a rare disorder. Children with SMA are not considered a priority for medicines funding.

In this year’s Budget, Pharmac received a $192m boost to its pharmaceutical funding budget, spread over two years. It’s challenging to gauge the cost of funding a treatment for SMA; Pharmac says that information is commercially sensitive. However, one industry expert estimates it would cost no more than a million dollars to treat the disease in New Zealand.

“I have written to Pharmac and someone called Cassie replied,” says Chauntel.

“She said she didn’t know if or when a treatment would be funded, and she signed off saying she hoped I found the information helpful. So, what do I do with that?”

It was during Lockdown that Chauntel noticed something was amiss with Zoey. She waddled when she walked, and the toddler couldn’t run or jump.

X-rays provided little insight into the cause of Zoey’s lethargy, and she was referred to Starship Hospital’s neurology department for more tests. Initial blood tests revealed something was amiss.

“The specialist called and said they had found something in her blood and it was going to impact her life. That was all we knew.”

Chauntel and fiancé, Chris, waited 48 hours for an appointment with the neurologist.  

“It was the longest 48 hours of our lives.”

Chauntel’s mother was on speaker phone from Dunedin, and Chris’ mother was with them at the hospital.

“It is actually a blur. They said she had SMA and would be unable to walk, and they told us Zoey would end up in a wheelchair. It was just devastating. My brain froze. I didn’t even know what SMA was. They sent us home with some paperwork, and we haven’t really heard anything since.”

In the meeting, Chauntel was told there were drugs to treat Zoey, but they weren’t funded in New Zealand. If the family could get access to treatment, the toddler could lead a normal and heathy life.

“As a parent, it’s heartbreaking knowing there is a treatment out there to help your baby but it’s not accessible here, and there is nothing we can do about it. Every day I watch her…. and I don’t know how long it will take for her mobility to go, but we know it’s going to happen.”

One in 54 New Zealanders will carry the SMA gene. Most will be unaware. If two carriers have a child, there is a 25% chance the baby will be born with SMA, a genetic, muscle-wasting disease that ranges in severity from Type One, the most severe, to Type Four. Zoey has Type 3 which means by the time she starts school she will be in a wheelchair.

Neither Chauntel nor Chris knew they were carriers of the gene.

Every week, Chauntel takes Zoey to Mainly Music, a group session for preschoolers which encourages the use of song, rhyme and movement.

“She has slowed down. She’s struggling to stand up sometimes. She used to be right at the front of the room dancing away, but now she’s more hesitant and she tends to hang at the back.”

Chauntel has also noticed that Zoey has a tremor which affects her fine motor skills, like drawing.

“I know that every day she is left untreated, her little body will deteriorate, and she has less chance of regaining what has already been lost.”

The family is in an increasingly challenging financial position. Chauntel can’t return to work, and the family isn’t in a financial position to move to Australia to seek treatment there.

“Our mums are really important to us and we really need our family around us. Australia….the financial implications of moving to another country….we just couldn’t afford it.”

Chauntel says all she can do is keep writing to the Government and urging Pharmac to fund this treatment.

“Our lives have been turned upside, and all we do is live in fear of the reality of the future. If Zoey can get treatment, she can live a life that is virtually normal, and isn’t that what we should try and provide for every child in New Zealand?”

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New Zealand needs access now to modern medicines to treat Spinal Muscular Atrophy (SMA).