Mother’s plea: ‘Help save my daughter’
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 toddler.
Kristie Yeoman’s daughter, Charlotte Bond, was diagnosed with the degenerative illness just before her first birthday.
The family 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 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. 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 will save Charlotte from an early death.
It’s not currently funded for all SMA sufferers in New Zealand.
Pharmac last week deferred a decision on funding Spinraza for SMA patients aged 18 and under until the outcome of two longerterm clinical trials were available — a move Kristie has 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.
She said she was terrified after researching the diagnosis.
She was also 24 weeks pregnant — and immediately began worrying her son would also be born with the
illness.
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, diagnosed with type 2 SMA, doesn’t fall into the small pool of people eligible for the drug through Biogen — the American company that makes Spinraza.
Biogen provides the drug for free to those with Type 1 SMA and who are under 18. It is 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 mobility deteriorate spurred her mother and grandmother to pen the petition, launched last Tuesday, and it has gathered about 3000 signatures. The family plans to present it to Parliament early next month.
Kristie said the family had considered relocating 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.
Kristie 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.
Lisa Foster, from 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 wider families.
“NZORD are hopeful that all factors for consideration, including the wider impact on the parents and wha¯nau, are weighed up adequately during Pharmac’s decision making process,” Foster said.
Spinraza was deferred by Pharmac during its recent call for applications for rare disorder medicines.
Pharmac chief executive Sarah Fitt has said its rare disorders subcommittee recommended the funding application for Spinraza be deferred at its November meeting and be reassessed after longer-term follow-up analyses was published from two clinical trials.
Fitt said Pharmac's expert clinical advisers provided objective clinical advice, taking into consideration before making their recommendations health need and benefits, costs and savings, and suitability.
It also considered the impact to the person, their family, wider society and the broader health system.
“We take our responsibility to fund the right medicines for New Zealanders very seriously,” Fitt said.
“We have a fixed budget, which means we must make careful and considered decisions about spending any available money on medicines to deliver the best health outcomes for New Zealand.”
You know there’s something you can do to help your daughter, but you can’t do it.
Kristie Yeoman