The complexity of diagnosing and treating rare diseases in Western Australia means they cost the state a disproportionately large amount of money, a study has found.
Lead author Dr Caroline Graham said it was hoped the ongoing study by the Health Department would give a better insight into diseases that affect one in 2,000 people or fewer.
“One of the main aims of this study was to try to get an estimate of the number of people living with rare diseases in WA,” she said.
With minimal data on rare diseases available both nationally and internationally, their impact on global health systems is little-known.
“Once we know roughly the number of people, we can start to work out the impact they have on the health system and the services that they may require,” she said.
Dr Graham and her team collected 10 years worth of data from public hospitals in WA.
It revealed sufferers of rare diseases were admitted to hospital 10 times more often than those without, and their length of stay was almost double.
Diseases classified as “rare” include muscular dystrophy, cystic fibrosis, neurofibromatosis, early-onset Parkinson’s disease, Huntington’s disease and early onset Alzheimer’s.
The study found that though they were only represented in 2.5 per cent of hospitalisations, they accounted for 5.4 per cent of admission costs.
But Dr Graham said in reality, that figure was probably much larger, due to the amount of rare diseases going unrecognised or undiagnosed.
“People with rare diseases often don’t present to the health system with a nice, succinct name to their disease or a code that we can use to collect data on,” she said.
“Because they affect so few people individually, you can present to your GP and your GP hasn’t seen that particular disease before, so it becomes very difficult for the health system to see where [people with rare diseases] are getting their treatment.”
Dr Graham said the cost analysis was just one aspect of research made available by the decade of data.
She said she hoped it would continue to reveal more about the little-known world of rare diseases so that sufferers may have increased access to timelier diagnosis and treatment.
“There is so much information that we have; we have a wealth of information that we’ve only just touched the surface of,” she said.