'Charlotte and all those like her don't have time': Plea to fund toddler's life-saving drug as vital muscles weaken

Milestones that most babies tick off without even noticing are hard for Charlotte Bond  who lives with spinal muscular atrophy.
Milestones that most babies tick off without even noticing are hard for Charlotte Bond who lives with spinal muscular atrophy. Photo credit: Supplied

Most toddlers are running around on their little legs by two years old, but Charlotte Bond, who lives with spinal muscular atrophy (SMA), gets exhausted trying to pull herself up to stand.

Her wee muscles are dying every day. Not just in her legs, but her entire body - skeletal muscles holding her heart, lungs and other vital organs.

Milestones that most babies tick off without even noticing are hard for Charlotte.

Her family has to make sure when she's sitting her back doesn't give out and she falls back and hits her head.

When she is crawling they have to make sure her arm muscles don't give out and she hits the front of her head.

There is a drug that is not currently funded in New Zealand that her family say can help make her life a lot easier.

Charlotte's family are desperately trying to get signatures on their petition for parliament to fund Spinraza.
Charlotte's family are desperately trying to get signatures on their petition for parliament to fund Spinraza. Photo credit: Supplied.

It costs about $1.14 million for the first year of treatment and four-monthly injections will set a patient back $135,000 each.

Charlotte’s grandmother Janine Yeoman has sent a petition to Parliament for funding of the drug, Spinraza.

She says it is proven to improve motor skills, respiratory function and quality of life for those with the condition.

"No one deserves the right to be denied a drug, especially [one] life-saving."

Ms Yeoman, who lives in Pukekohe with her daughter and grandaughter, says Spinraza can drastically slow down, even stop, the progression of this disease.

"It helps respiratory problems; kids that have been not able to walk can now sit, pick up a pen, crawl and are doing so because of this drug.

"Premature death is a big one with SMA, in a lot of cases Spinraza is giving a longer life, a better quality of life.

"I can't sit back and let Charlotte and others be denied this medication."

The two-year-old has four cousins who she keeps up with using her power chair.
The two-year-old has four cousins who she keeps up with using her power chair. Photo credit: Supplied.

Charlotte's family first noticed something out of the ordinary with her health when she was four months old and had small tremors in her hands.

"I didn't think too much about it but secretly, I was concerned," Ms Yeoman says.

As a baby Charlotte got pneumonia twice in her first year but nothing was picked up. She didn't sit until she was 10 months, and by 14 months she wasn't showing any signs of walking soon.

Her family took her to a paediatrician who performed tests. Eight weeks later, in April 2018, they were delivered the diagnosis that Charlotte has type 2 spinal muscular atrophy.

"We were devastated."

Charlotte was 16 months old and her mum, Kristie, was 24-weeks pregnant with a little boy.

"It's a genetic disease so he had a one in three chance of having it as well. They couldn't test until he was born but did so within a week of his birth. He is a carrier."

The family's paediatric neurologist put their minds at ease when explaining about "an amazing drug" on the horizon that was promising for SMA patients. However it is not funded in New Zealand.

"They say they need more time to see evidence that this drug can work."

Charlotte's grandmother says she is shy but very intelligent and mischievous.
Charlotte's grandmother says she is shy but very intelligent and mischievous. Photo credit: Supplied.

Spinraza is fully funded in Australia and others with SMA have seen amazing results after using it. 

"It helps respiratory problems; kids that have been not able to walk can now sit, pick up a pen, crawl and are doing so because of this drug.

"Premature death is a big one with SMA, in a lot of cases Spinraza is giving a longer life, a better quality of life.

"I can't sit back and let Charlotte and others be denied this medication."

Two long-term trials are underway but the last of those results won’t be published until 2023. 

She says Pharmac is a billion-dollar Crown entity which could help the 100 known people in New Zealand with this condition - 35 of who are children.

The petition is aimed to raise awareness about Charlotte's disease and open a conversation around medicine designed to improve her quality of life.

"I want to get help for my baby granddaughter and all like her. I need signatures really bad so the politicians will have to listen."

Charlotte has just had her tonsils removed as they were affecting her breathing at night-time because of sleep apnea.

She takes epilepsy and asthma medication which gives her muscles "a little zing" and keeps her lungs healthy.

There is no cure for SMA.

She is one of about 100 people who could benefit from the drug, 35 others of whom are children.
She is one of about 100 people who could benefit from the drug, 35 others of whom are children. Photo credit: Supplied.

Ms Yeoman says that the impact on their family, especially her daughter, has been huge.

"We worry about her future without this incredible drug Spinraza," she says.

Recently Charlotte received her first power chair and it has given her a new lease on life.

Her grandma says she is really intelligent and mischievous and likes to go to places in the house the furthest away to get up to mischief, or she cruises fast like she's "running".

"She has four cousins under four years old so she now can keep up with them.

"It has made her so much more independent, the cupboards she can access now because the chair lifts."

The Lotteries Commission has granted her a van just this week as well to get her power chair out and about, so next step is into the big wide world.

Ms Yeoman says that if in the end she doesn't get the drug funded she would have done everything possible for her "precious granddaughter".

"It's absolutely heartbreaking to see this beautiful little girl get denied a chance at making her life better.

"If Charlotte gets this drug she could walk, the longer the wait the more her legs are going to get weaker, at the moment she can bear weight but for how long is uncertain.

"Charlotte and all those like her don't have time."

Newshub.