A Pukekohe family has launched a petition urging Pharmac to fund a drug for spinal muscular atrophy - which they believe would prolong the life of their 2-year-old daughter.
Kristie Yeoman's daughter, Charlotte Bond, was diagnosed with the degenerative illness just before her first birthday.
The family already had an inkling something was wrong in the months before - Kristie and her partner Rick noticed she reached certain milestones like crawling and walking later than expected.
When Charlotte's grandmother Janine Yeoman noticed a tremor, Charlotte was rushed to a paediatrician for some testing.
One of the tests came back positive for spinal muscular atrophy, or SMA - a genetic disorder that affects the control of voluntary muscle movement. It's caused by a loss of motor neurons.
Charlotte cannot walk unassisted - she's recently got a wheelchair to zip around in.
If untreated, SMA is expected to make her weaker over time before causing an early death.
Spinraza, the only FDA-approved treatment for SMA sufferers, isn't a cure, but has been proven to slow, or stop the effects of the disease.
In severe cases the treatment can extend a child's life by years, and Kristie hopes access to the drug would save Charlotte from an early death.
It's not currently funded for all SMA sufferers in New Zealand.
Last week Pharmac deferred a decision on funding Spinraza for SMA patients aged 18 and under until the outcome of two longer-term clinical trials were available - a move Kristie described as "devastating".
"You know there's something you can do to help your daughter, but you can't do it," she told the Herald on Sunday.
Kristie said she was "terrified" after researching the diagnosis. She was also 24 weeks pregnant - and immediately began worrying her son would be born with the illness too.
Thankfully, tests on Kristie's newborn son came back clear - though he was found to be a carrier. Between 1 in 40 and 1 in 60 people are believed to be carriers of SMA; but it does not mean they will develop the disorder.
Charlotte had been diagnosed with type 2 SMA, meaning she doesn't fall into the very small pool of people eligible for the drug through Biogen - the American company that makes Spinraza.
Biogen provides the drug free of charge to SMA sufferers under the age of 18 - but only those with Type 1 SMA; the most aggressive of the three forms of the illness.
Without Government funding the first year of Spinraza costs around $1 million. Hundreds of thousands of dollars were needed to continue the treatment for subsequent years.
"None of us in the SMA community can really afford it - especially because it's for the rest of your life," Janine said.
Watching Charlotte's ability to move deteriorate, spurred her mother and grandmother to pen the petition to Parliament.
More than 3000 people have signed since the family launched it on Tuesday. The family planned to present the petition to Parliament early in April.
"Time is something the spinal muscular atrophy community doesn't have. Every day without treatment is a step closer to more deterioration," the petition reads.
"Our loved ones lives depend on the right decision being made quickly."
Kristie said the family had considered relocating over to Australia - where the drug was funded. But she worried by the time they had settled there and got into the medical system, it might be too late for Charlotte.
She believed her daughter had a good chance of walking, if she had access to the drug in the near future.
"There's only around 35 children in New Zealand with SMA - the rest are adults. I don't think we're asking too much of Pharmac, to fund these children," she said.
Spinraza was deferred by Pharmac during its recent call for applications for rare disorder medicines.
Pharmac now intends to look at further evidence from the pharmaceutical company and from patients before deciding on whether to fund the drug or not.
Lisa Foster, relationship manager for the New Zealand Organisation for Rare Disorders, said several families spoke directly with Pharmac at an education session last week, about the devastating impact a lack of access had on their children, and their wider families.
"NZORD are hopeful that all factors for consideration, including the wider impact on the parents and whanau, are weighed up adequately during Pharmac's decision making process," Foster said.