Patient frustration aired as narcolepsy falls between the respiratory-neurology specialty gaps


By Mardi Chapman

7 Jun 2021

A parliamentary inquiry into approval processes for new drugs and novel medical technologies has again raised the issue of how patients with rare sleep disorders such as narcolepsy are managed in Australia.

A public hearing of the Inquiry heard consumers are frustrated at all stages of the process. For example, they report confusion about why they are largely seeing respiratory physicians for diagnosis of what they perceive to be a neurological disease.

“For narcolepsy and IH [idiopathic hypersomnia], we all see respiratory specialists. It’s a neurological disease. It’s nothing to do with respiratory. So we are stuck seeing people who actually know limited [sic] about the brain, but that is where we are sent because that is what is standard here,” Narcolepsy Australia president Melissa Jose told the hearing.

And access to effective medicines, the focus of the Inquiry, was problematic at different levels.

“…in order for doctors to prescribe us these medications they have to essentially fabricate the truth and give us a narcolepsy or ADHD diagnosis, depending on the medication being accessed. This is problematic, it is untrue, it is unethical but it is a widely accepted practice, as they have no other treatment to offer us,” said Amanda Vernon, who has idiopathic hypersomnia and a teenage daughter with the condition.

There was also frustration that more effective medications such as sodium oxybate (Xyrem) were not available in Australia.

Many of the issues raised at the Inquiry have previously been recognised in Bedtime Reading, the 2019 report from the Parliamentary Inquiry into Sleep Health Awareness in Australia.

Among its recommendations were:

  • investigate options to separate the existing ‘Respiratory and Sleep Medicine’ speciality into independent ‘Respiratory’ and ‘Sleep Medicine’ specialities under the Australian Health Practitioners Regulation Agency framework
  • fund research into the prevalence, causes, and mechanisms of rare or not well understood sleep disorders, including narcolepsy and idiopathic hypersomnia
  • make a submission for the listing or registration of sodium oxybate under the Orphan Drug Program.

Dr Chris Seton, a paediatric and adolescent sleep physician at the Westmead Children’s Hospital and the Woolcock Institute of Medical Research, told the limbic he understood the level of frustration by people living with the conditions.

“Sleep is categorised as a subgroup of respiratory medicine. That’s how it started. Sleep medicine was an annexe of respiratory medicine and there are still some dinosaurs around who think that sleep is respiratory medicine.”

“Our belief is that sleep medicine should be multidisciplinary. In my practice, 40% of the young people I see have a respiratory issue but 60% do not.”

Dr Seton, who has established an adolescent clinic at the Woolcock Institute, said patients typically benefit from multiple inputs. That included sleep psychologists to address mood disorders, allergy specialists to manage airway blockage and snoring, and neurologists where patients might need other investigations such as 24-hour monitoring for seizures.

“The multidisciplinary approach is the way to go where you have different specialists under one roof and you interact. It saves people running around Sydney seeing different specialists who may not be appropriate.”

Access to medicines

Regarding more equitable access to medicines, Dr Seton said sleep disorders ran the gamut from near normal through hypersomnolence to narcolepsy.

“You can have two people equally sleepy but one will be in the hypersomnolent group on the test and the other will be in the narcolepsy group. Functionally they are the same but the problem is that when you are labeled as narcolepsy you get potential benefits while others don’t.”

He said that as well as access to PBS subsidised treatments, young people with narcolepsy were recognised as having a learning disorder – at least at schools in NSW. As a result, they received special provisions such as more time to complete examinations that were not available to people diagnosed with hypersomnolence.

“And that’s unfair because the line between narcolepsy and hypersomnolence is just a line in the sand based on the degree of sleepiness on testing.”

He said a similar issue had occurred in the US regarding subsidised access to Xyrem.

“For a number of years it was subsidised if you had narcolepsy but not if you had hypersomnolence. I think it was about 12 or 18 months ago that people with hypersomnolence celebrated when the government said they would subsidise Xyrem for hypersomnolence as well as narcolepsy.”

Dr Seton said Xyrem was by far the best medication for narcolepsy and had been used overseas for some years with much better results than modafinil which is used here.

He said occasionally he has been able to access the drug through individual provisions in very severe narcolepsy where patients had failed every other drug.

“Even if the government says yes, the patients still have to pay for it and it’s around $25,000 per year,” he said.

He said it was incredible that Xyrem was not available for a rare disease like narcolepsy yet the government chose to fund nucinercin at $750,000 per patient per year for the rare disease spinal muscular atrophy (SMA).

“So the benefit of nucinercin is mild to moderate and Xyrem has huge benefits. Rare diseases in general are not vote winners but SMA is a good comparison – it took very good lobbying and political influence to get that level of support.”



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