A young family is fighting a rare form of epilepsy which causes their two-year-old daughter to have life-threatening seizures every two days.
Skyler Coghlan, from Mildura in Victoria, suffers from Dravet syndrome, which has no cure and requires drugs that can cost more than $100,000 a year for adults and $40,000 for children.
Dravet syndrome is a form of epilepsy that means there’s a 20 per cent chance Skyler, like others living with the illness, will die before she enters adulthood.
Her mother, Bianca Coghlan, says Skyler takes a cocktail of medication aimed at reducing the frequency and intensity of her seizures.
But, so far, it hasn’t worked.
“I remember one of my first questions was like, ‘Is she going to be able to go to school? Like, is she going to be able to drive?'” she says.
“She just misses out on so much.”
Skyler’s father Daniel Coghlan says the two-year-old has been been flown to hospital seven times in her young life.
“She obviously has a lot of seizures. And some of them are hard to stop if you don’t administer that medication quickly,” he says.
Bronwyn Lambert is a local paramedic who sees the Coghlans on a weekly basis, when Skyler’s seizures are unstoppable.
“I wouldn’t like to be seeing my children go through what Skyler goes through,” Ms Lambert says.
“She’s probably the bravest girl I’ve ever met.”
Fighting Dravet isn’t cheap
One of the most effective medications for the life-limiting syndrome, fenfluramine, costs $110,000 per year for adults and $40,000 a year for children.
Ingrid Scheffer, head of paediatric epilepsy at Austin Health, says that urgently needs to change.
Professor Scheffer campaigned for the Royal Children’s Hospital in Melbourne to cover the cost of fenfluramine for Skyler, but says more needs to be done to bring the medication within reach for other families.
“We need equity of access for children all around Australia to ensure that they can get this drug as soon as possible, so that they can make as best developmental progress as possible,” Professor Scheffer says.
“Honestly, it’s out of reach for almost every family, very few families can afford that sort of money.
“One needs to look at it from a health economics perspective for the society.
“Because if these children come in every month, as little Skyler does with an episode of status epilepticus [severe seizures] where they seize for 30 minutes or maybe even two hours, then that’s costing a lot of health costs because they need transport to intensive care.
“If we really look at that health economic cost, I suspect that the cost of this drug will be well worthwhile and will make a huge difference.”
Gene therapy trials are being conducted in the United States and Europe but Professor Scheffer says Australian children like Skyler don’t have access.
Professor Scheffer is seeking to raise awareness about the rare condition.
“We need greater expertise around Australia to cope with a very severe epilepsy in both doctors in terms of paediatricians, paediatric neurologists, and then carers in the community, and families,” she says.
While those battles continue, Ms Coghlan says Skyler is fighting on as only she knows how.
“She just finds joy in everything she does. She’s taught us a lot of resilience.”
Help out of reach
A petition for fenfluramine to be added to the Pharmaceutical Benefits Scheme (PBS) to help with the management of Dravet syndrome has been presented to federal parliament, with more than 24,000 signatures.
The petition, which has closed for signatures, says two studies have found fenfluramine has a “significant impact” in reducing seizure activity in people with Dravet syndrome.
Moama mum Makayle Maher is trying to get her three-year-old daughter, Inala, on the medication.
But the single mother, who stopped working to care for Inala after she was diagnosed with Dravet syndrome, says she can’t afford to pay tens of thousands of dollars a year for fenfluramine.
“Inala’s having seizures about fortnightly at the moment,” Ms Maher says.
Inala had her first seizure – an episode which Ms Maher estimates lasted for about 15 minutes — when she was nine months old.
It was swiftly followed by more seizures, and Ms Maher says her daughter was in and out of hospital before her first Christmas, when she had to be airlifted to Melbourne.
“Inala had a couple of seizures and had been to hospital already, in emergency, and been discharged and had to go back again,” Ms Maher says.
“That seizure lasted an hour.”
Ms Maher says Inala was almost airlifted to Melbourne earlier this month because she fell during a seizure and hit a concrete slab.
“The longer the seizures are, the more risk it puts these children of Sudden Unexpected Death in Epilepsy,” Ms Maher says.
“That can take its toll.”
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