Auckland mum with rare disease devastated by decision

Fiona Tolich, right, is battling for a cause she strongly believes in. Photo credit: Supplied

For years, Fiona Tolich wrote off her dislocation problems as just 'dodgy knees'.

She was sporty, healthy and active - as a kid she had played First XI cricket, hockey and football, and as an adult was a regular gym-goer.

But when she became pregnant at 30, her knees began giving way so regularly, she took herself to an orthopedic surgeon.

And the results were devastating.

"The doctor picked up that the problem was neurological," says Fiona. "A muscle biopsy and a nerve condition test confirmed that I had spinal muscular atrophy - SMA."

In the simplest terms, SMA is a disease that robs people of their physical strength. It kills the motor nerves in the spinal cord, stopping messages being sent to muscles around the body and ultimately affecting a person’s ability to move - to eat, walk, brush their hair, lift their arms, hold a cup, and even to breathe.

And there is no cure.

SMA is a rare disease - in New Zealand, between 75 and 100 people have it, although around one in 50 are carriers. The disease is autosomal recessive, which means both parents need to be a carrier and have two recessive genes appear in their children. This means the disease can go through generations without being detected.

But once it appears, its effects are life-changing.

"Spinal muscular atrophy is the number one cause of genetic deaths in infants," says Fiona, now 38. "It impacts all genders, all races. There is no screening, because there is no treatment."

Until now.

A new drug, called Spinraza or nusinersen, has been developed, tested and approved in many countries - in Australia, Scotland, the States, and Turkey, citizens born with SMA can now receive the medicine, which stops SMA in its tracks.

In New Zealand, the drug has recently been deferred by Pharmac's rare diseases sub-committee. Pharmac is the government body that selects which medicines will be publicly funded in New Zealand. It has asked for more long-term data on the effectiveness of Spinraza.

"To me, Pharmac's decision beggars belief," says Fiona. "The evidence is there overseas - I have seen it walking around in Australia and the US. But if you live here as a New Zealander, born and bred, it’s a no."

Dr Collette Bromhead, CEO New Zealand Organisation for Rare Disorders, says the decision has been a huge disappointment for the community.

Dr Bromhead says she believes economic considerations have leaked into Pharmac's decision-making process.

Dr Collette Bromhead
Dr Collette Bromhead Photo credit: Supplied

"It's the cost, although they won’t admit to that. There needs to be a separation of the health assessment from the economic assessment. Otherwise it means there's no difference between a politician making the decision and Pharmac making it.

"If they'd simply said, 'Sorry, we spent all our money this round', people probably would have been happier. Instead they've drawn a ridiculous line in the sand that makes no clinical technical sense."

Professor Monique Ryan, director of the neurology department at Melbourne's Royal Children’s Hospital, says "Spinraza is not a miracle. It doesn’t return patients to normality. But it slows the progression of SMA.

"Children with SMA 1 - the most extreme strain of SMA - will die before they are two if they’re not treated. So it's difficult for families to hear that there is an effective treatment that is not available to them."

Professor Ryan says she believes it's reasonable for countries like New Zealand with budgets to put some limits on who should receive these sort of medicines.

"But to not have it available to anyone at all is problematic."

Australia approved funding for Spinraza on its public health system in April 2018 for all patients younger than 18.

Fiona considers herself lucky - she can't run, but she can still walk, and lift her children.

Fiona's children are 100 percent supportive of their brave mum
Fiona's children are 100 percent supportive of their brave mum Photo credit: Supplied

"It's a bloody cruel condition," Fiona says. "When kids are given a diagnosis of SMA, their parents will be told, 'Go home, make memories, take photos.' Because there is no treatment, and every day another motor neuron could be lost. Time is not on these kids' side."

"In severe cases, the problem is respiratory. The condition inhibits their ability to breath or cough, so a build-up of mucus can't be cleared. In those cases, a cold can lead to a collapsed lung. For others, a fall could fracture a bone, so they're not going out, not leaving home."

Fiona lives in Auckland with her husband and two children. She volunteers part-time as an advocate for the SMA community, and has travelled to America to attend conferences and meet other SMA patients.

Fiona says she won't give up the fight - more than 377,000 New Zealanders have a rare disease, and that community deserves to have a voice.

Fiona Tolich volunteers for the SMA community. She thinks this is a human rights issue and advocates for children living with rare disease.
Fiona Tolich volunteers for the SMA community. She thinks this is a human rights issue and advocates for children living with rare disease. Photo credit: Supplied

"To me, this is a human rights issue. I get that there’s only so much money, they can’t fund everything. But we have kids being fitted for wheelchairs right now that don’t have to go that way. They won’t ever get back their ability to move.

"I will always hold out hope. It feels like a David and Goliath fight and we’ve just got to believe that David will win. These kids shouldn’t have a future that involves hoists to get them onto a bed. Parents shouldn’t have to give up work and live off the bones of their arse. These kids are far too important to give up fighting."

Today (February 28) is Rare Disease Day. The main aim is to raise awareness about rare diseases and their impact on patients lives.

This article was created for Medicines NZ