Tasmanian narcolepsy sufferer waits for life changing $1600 a month drug

Pam and Ella Bird hope a $1600 a month drug will allow Ella to live a full and active life
Picture: Isabel Bird
Pam and Ella Bird hope a $1600 a month drug will allow Ella to live a full and active life Picture: Isabel Bird

Sleep disorder sufferer Ella Bird looks down at her school notes to see that her handwriting has turned into an illegible scrawl, which then stops mid-sentence on the page.

It indicates to the Tasmanian school girl that she has fallen asleep.

Her friends tell her that she has been sleeping and she has to believe them, because even though it feels to Ella as though she has remained awake for the entire time, she knows what her friends’ say is true.

Ella has narcolepsy with cataplexy, a rare, neurological, sleep disorder that affects an estimated 12,000 Australians, which forces sufferers to sleep up to 20 hours a day.

Symptoms include chronic and involuntary sleepiness, hallucinations and cataplexy, which is a muscle paralysis that causes the body to drop, brought on by strong emotions such as laughter, joy, anger or stress.

“When I was first diagnosed I didn’t really think anything of it, I just knew that I had it,” Ella said.

“Now that I am older it annoys me, I miss out on lots of things, and I don't like having it.”  

She was laughing at something on her phone and had a full-blown cataplectic attack and then just fell asleep.

The disorder affects the brain's ability to regulate sleep-wake cycles, so where normal sleepers experience Rapid Eye-Movement sleep after 60 minutes narcolepsy sufferers enter REM sleep within the first 15 minutes of sleeping.

During REM muscles go limp and dreaming occurs, meaning for narcolepsy sufferers the line between wakefulness and sleep merges, eventually leading to a long-term sleep debt.

Inadequate research exists, with unknown causes and unreliable treatments.

Ella’s mother Pam said the first sign that something was amiss was when Ella started collapsing at school.

“She told me that she kept falling over.  I just told her to be a bit more careful,” Mrs Bird said.

“I didn’t realise exactly what she meant until I was getting ready for work and she came into the bathroom and just collapsed.  It was very scary. You wonder, does she have a brain tumour? Was this my fault? What has caused this? It was the whole range of ‘oh my God, what has happened and how can I fix this?’ And I still feel this way.”  

It took six months before Ella was correctly diagnosed, at age 14.

During this time she could spend up to 20 hours a day sleeping, and then, when she was awake, would suffer cataplexy episodes, sometimes up to 30 times a day.

These ranged from a full-body cataplexy attack where she would drop to the ground, to more mild episodes which might cause her to stutter, both lasting from seven seconds up to several minutes.

Mrs Bird said Ella was on 24-hour watch, with someone always standing close by, ready to catch her if the cataplexy triggered.

“There were all the risks, such as her falling down stairs, falling in the shower and hitting her head, or slipping in the bath,” she said.

“Even now, almost two years on, we still haven’t got the medication right.  Just before, she was laughing at something on her phone and had a full-blown cataplectic attack on the couch and then just fell asleep.”

Ella said she continually fights the urge to sleep, but never succeeds.

It means that she cannot go swimming, or start learning to drive as most of her friends are now doing.

“The attacks have happened in the water before and that was scary,” she said.

“And at night you hear things that aren’t there.  I tell myself that they are not there, this is still while I’m asleep which is really weird, but I still keeping hearing the noises.”

Mrs Bird said it was heartbreaking to watch her once active daughter in a constant battle to stay awake.

“If Ella wasn’t on any medication she would just sleep the day away,” she said.

“But even though she is sleeping she is not getting any restful sleep, so it is like being awake for 72 hours straight. That is how she feels like every day.”

She said normal sleepers have a busy day at work and get a good night’s sleep to get up refreshed the next day and do it all again, but narcolepsy sufferers get minimal restorative sleep, making it impossible to ever feel refreshed.

“It is absolutely a daily battle.  Some days are better than others, and some days are worse than we have ever seen.”

Ella Bird, 16, has narcolepsy, a rare neurological sleep disorder that causes extreme sleepiness. Picture: Isabel Bird

Ella Bird, 16, has narcolepsy, a rare neurological sleep disorder that causes extreme sleepiness. Picture: Isabel Bird

The quest to find suitable medications and doses to help Ella stay awake during the day, to help her sleep at night, and to prevent night terrors and cataplexy attacks, is ongoing.

Current drugs being used for treatment are undesirable, being amphetamine based or anti-depressants, all which have side effects.

The existence of a commercially undeveloped orphan drug described as “life changing” for narcolepsy sufferers, also comes with its own concerns.

The drug Xyrem is related to the date-rape drug GHB and was once listed as an illegal class A narcotic in Australia.

A parent-led fight for the drug to be used in Australia changed this.

Narcolepsy Australia founder Melissa Jose, whose son has the condition, successfully lobbied the Therapeutic Good Administration (TGA) to get Xyrem rescheduled as a controlled drug.

The Brisbane-base Mrs Jose said she found little information on narcolepsy after her son’s diagnosis, so she started a new organisation to reach out and build her own support network.

She said Xyrem costs her family $1600 a month, which is more than $19,000 every year, but ultimately, the drug was helping her son get his life back.

Mrs Bird said she would have to apply to the state government and the TGA for Ella to also receive this drug, but the family was in two-minds about its use.

The causes are still unknown but possibilities include a genetic predisposition to the disorder,  triggered by an environmental factor, such as a double-dose of the flu, or a vaccine. 

“It concerns us, but this drug can change my daughter’s life,” she said.

“It can change her from being someone who sleeps 20 hours a day to someone who is a fully functioning member of society, who is not going to have to worry about what job she is going to do, or worry about going to uni because she can’t stay awake for lectures.”

Information at www.narcolepsysupportaustralia.com.

Mrs Bird wants to develop support networks in Tasmania, and find other young sufferers around Australia. Contact: 0417 055 403

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