The silent disease you have never heard of
Detail of a sequence of pathogenic events in ANCA. Image: Google Scholar
Emily Bell, 20, is a young sufferer of the autoimmune disease ANCA that has largely destroyed her kidneys. However, her chronic illness is not considered a disability under Government guidelines so she is unable to claim supporting benefits, as Isobel Cootes reports.
Can you imagine being told you have a chronic illness that can’t be helped or cured? This is the reality for one in 50,000 Australians who currently suffer from the autoimmune disease known as ANCA.
Although the autoimmune disease is most common in Australians aged 65 to 74, recently 20-year-old, Emily Bell was diagnosed with ANCA. As one of the youngest sufferers in Australia, she was initially misdiagnosed with an iron deficiency. Then, after six months, she was diagnosed in May this year. She was faced with little treatment options to help her fight the disease.
Emily Bell before her diagnosis and after her diagnosis, showing a side effect of her medication - severe water retention. Image: Supplied
Anti-neutrophil cytoplasmic antibody (ANCA) affects blood vessels, the antibodies produced by white blood cells to help fight infection turn abnormal and begin to attack the sufferer's own cells and tissue. In some severe cases, this can lead to organ failure; in Emily’s case, her kidneys.
"You become depressed and anxious with all the changes and I hate explaining what is it to people because I don’t even really know. I didn’t even know what ANCA was until I was diagnosed" - Emily Bell
With her kidneys functioning at just 19 per cent, she was admitted to hospital and pumped with infusions made up of biological agents that were used to attack the abnormal cells that were attacking her kidneys. The treatment worked and has provided Emily with some relief. Her kidney function has increased from 19 per cent to 34 per cent function in the last four months, although a healthy person's sits above 90 per cent.
Emily explains her long journey and how it has affected every aspect of her life. Video: Isobel Cootes & Liam Fairgrieve
Emily is the first in her family to be diagnosed with the chronic illness and explains the extensive medication she and other sufferers have to take daily. “Prednisone is a steroid and an immune suppressant. And then their is Pantoprazole, to stop stomach ulcers and reflux. Remipril and Lercanidipine – they’re both blood pressure tablets. Bactrim is to stop rare infections; calcium and vitamins are just to help out with the Prednisone because it strips you of your muscle and your bone, and all the calcium in your body.”
One of the many side effects of the immune suppressant Prednisone is that is attacks the patient's immune system. As a result, Emily’s immune system has been weakened and she has been in and out of hospital three times over the past four months with infections, spending up to five weeks at a time each visit. Subsequently she was not allowed to go into public for the first three months, was not allowed near crowds and could not be in contact with anyone showing signs of a cold, out of fear of infection.
Emily describes her limited treatment options and the side effects she experiences from them. Audio: Isobel Cootes & Liam Fairgrieve
However, there aren’t many other options for ANCA sufferers because without treatment, 85 per cent of patients will die within five years; and up to 15 per cent of patients die from the treatment itself. This is a result of non-specific medications, such as steroids and immune system suppressants that aim to improve the abnormal antibody-related inflammation. These medications are often a last resort for severe cases of ANCA, as after prolonged use they are associated with serious side effects such as an increased risk of infection and cancer.
Dr Roger Garsia, Associate Dean of Central Clinical School at the University of Sydney who recently released a paper on ANCA, explains the issues with current ANCA treatment. “Prednisone is a synthetic steroid that is, very effective way of dampening down inflammation. But it won’t turn off the disease permanently. The long-term aim for researchers is to have very specific immunosuppressant agents that just switch off the response against that particular target, and then don’t switch off useful responses, such as those against infection.”
"The way forward is to understand what the original trigger is. If we can understand what triggers this disease in the first place, then we can act even earlier" - Dr Garsia
Emily Bell says she has had to put her life on hold in order to cope with the illness and the side effects of medications. The treatment plan has forced her to defer her university degree and move back in with her family. She says that although she suffers from a chronic autoimmune illness, she is unable to receive any financial support from the government as she isn’t considered independent from her parents until she turns 22. Furthermore her chronic illness isn’t considered a disability under government guidelines, so she is prevented from claiming the Disability Support Pension.
Dr Squance describes how autoimmune sufferers in regional areas struggle and highlights the limited public funding for these diseases. Audio: Isobel Cootes & Liam Fairgrieve
Dr Marline Squance, Executive Director of Autoimmune Resource & Research Center (ARRC), admits how hard it is for her own patients to receive any benefits. “We do not have a high success rate in getting disability payments for our patients. The people in the government sector don’t understand the illnesses, they don’t understand the complexity of the illnesses.”
The Sickness Allowance guidelines highlight the age cap and restrictions that have been placed on Australian's like Emily. Photograph: Australian Department of Human Services
Dr Squance is distressed by the government guidelines and ‘checkpoints’ against chronically ill patients. “If someone is disabled and can’t work, she can’t work. It’s as simple as that. It doesn’t matter how old you are. You could be 18. You could be 25. You could be 45. You could be 67.”
Emily Bell and other ANCA sufferers have a 50 per cent chance of relapse and therefore Sickness Allowance would only provide temporary cover and relief for such a chronic illness. An alternative option would be the Disability Support Pension, although the government requires medical evidence of the disability, injury or illness and perhaps an assessment by a Job Capacity Assessor and government-contracted doctor.
Dr Garsia explains the science behind ANCA and the affects it has on a sufferers organs. Video: Isobel Cootes & Liam Fairgrieve