It started when she was 40. For months, a routine that had sustained the spinning plates of career, marriage and motherhood had, after 15 years, started to bow under the weight of exhaustion.
Up at 5am; 8km run, 2km swim, commute from Bowral to Sydney. By day, a cardiac diagnostician, by night a mother of three. Sara Little had built a well-functioning system that began to fall apart as did the body that moved through it.
“It was a few months of feeling really exhausted. I would wake up feeling absolutely exhausted but I would push myself through it for as long as I could,” she said.
One Valentine’s Day morning, around six years ago, Sara decided that she just couldn’t get out of bed that day. Within six hours, she was in multiple organ failure.
Sara is Australia’s first diagnosed case of Neuro-Cardio Behçet’s, a rare autoimmune disease which manifests in the immune system as it struggles to identify a body’s own organs and attacks them. In Sara’s case, it began with her body rejecting her heart and eventually, her brain.
It took Sara three months to receive a diagnosis and for the past six years she has been battling, almost daily, to stay alive.
“I’ve had a stroke, heart attack and I have ongoing inflammation in my brain. I’ve just got through my seventh episode of meningitis, but there is also chronic, ongoing inflammation in my brain all the time,” she said.
Then two weeks ago, Sara began treatment with a new drug and within a matter of days, felt the fog of the disease finally start to lift.
“After seven years, I had forgotten what it was like to be well, but I am starting to remember now. I can take a deep breath in and feel vital again.”
The drug, Rituximab, originally was used to treat lymphoma, but has increasingly been given to patients with autoimmune diseases. And while there is now hope that Sara may have turned a new page on her illness, her treatment presented a confusing paradox for those with rare autoimmune diseases.
While the drug is listed on the Pharmaceutical Benefits Scheme (PBS), Sara’s diagnosis prevents her from accessing the subsidy.
“If I had Crohn’s disease or rheumatoid arthritis, I would be given all the treatment for $27.80. But the same drug, on the same treatment regime with the same dosage rate costs me $7,000 per infusion,” she said.
A PBS drug has gone through a laboured process to find its place on the subsidy list and is given narrow berth to be utilised. Sara was told that for her diagnosis to be eligible for the subsidy, a prerequisite trial with around 200 participants would be required.
“How do we get those numbers when my disease is so rare that there are only four people in the world using the treatment with my condition?” she said.
If I had Crohn’s disease or rheumatoid arthritis, I would be given all the treatment for $27.80. But the same drug, on the same treatment regime with the same dosage rate costs me $7,000 per infusion
After receiving her diagnosis in 2013, Sara was placed under the care of immunology specialist professor Dennis Wakefield at St Vincent’s Hospital.
In the years that followed, every conventional form of therapy was exhausted and clinical trials that proved effective at the outset, were soon added to the list of medications Sara had become resistant to.
“Dr Wakefield was my champion. He went looking everywhere for something that might work, he went to drug companies and begged them to give me access to expensive treatments on compassionate grounds,” she said.
“Without him, I would not be here.”
When professor Wakefield retired, the search for a new specialist was almost as difficult as the search for a treatment.
“No one would take me on. It’s not just that they wouldn’t accept my case, it’s that there are so few specialists when it comes to autoimmune diseases,” Sara said.
Then last year, after associate professor Allan Sturgess took on her case, she began six months of intensive chemotherapy with the hope it might reset her immune system before a new drug, Rituximab, was found.
“We’re limited with very small numbers around the world having this disease and having treatment but we found that all the people that take this drug responded. They all responded and they’re all in remission. It gave me hope.”
Sara, too, responded to the new medication however, at $7,000 per infusion, the treatment is her most expensive yet.
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“I can’t tell you what it feels like to lie in a hospital bed and know that there is something out there that can potentially save your life, that is available to other people, but isn’t available to you because of a label.”
In the interim, Sara’s family has set up a GoFundMe page to help pay for the expensive, yet life-saving treatment.
12 per cent of Australians are predicted to be affected by an autoimmune disease at some point in their lifetime. This list includes type 1 diabetes, multiple sclerosis, rheumatoid arthritis, Lupus, among others.
It is estimated to cost Australia $30 billion each year, twice that of cancer, according to the Garvan Institute, while public awareness of autoimmune disease still remains quite low and root causes remain largely misunderstood.
For Sara, being a rare case has made her journey that much more difficult.
“What I have is very rare. 95 per cent will have a non-life-threatening form of autoimmune disease. What I have is in that 5 per cent that is life-threatening,” Sara said.
But Sara has refused to give up.
“Two weeks ago, I wasn’t able to talk, leave my house. This drug has given me back my life,” she said.
“I have promised to make it my mission, if I get better, to raise awareness of rare diseases and autoimmune diseases. There’s not enough of us to have a voice yet, but maybe that’s why I am still here, to become that voice.”