At 19 years old, Tony Mims found out he was carrying the gene that gave him Huntington's Disease (HD). At age 40, subtle symptoms began to appear.
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Five years on, Mr Mims is promoting an Australian-first, Monash University-led project to map sufferers of HD across the nation to help centralise care.
"You spent a lot of time symptom watching and it can be a mental battle around staying the course of an average lifestyle," he said.
"People experiencing things ... and getting a bit worried, it would be great to use [the registry] as a method of making a centralised place to get information and support based on where you are."
HD is a rare, genetic disease that causes nerve cells in the brain to break down, affecting a person's cognitive functioning, movement and mental health.
Australia does not have a national body for HD and access to care can be particularly difficult for regional people with the disease.
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Monash University's Turner Institute for Brain and Mental Health senior research fellow Dr Yifat Glikmann-Johnston said the project would help connect regional patients to the resources they needed.
Outside of main cities there's nothing really and these people really need a comprehensive care, not just to seeing a neurologist once a year. They really need ongoing support
- Senior research fellow Dr Yifat Glikmann-Johnston
"They need access to psychology, neuropsychology, speech pathology, social workers, psychiatrists; a range of services, which in regional areas a lot of care providers may have not even seen someone with Huntington's Disease ever and they wouldn't really know what to do," she said.
The registry will map where people live, what services are nearby, how far they need to travel, community services, other obstacles in accessing HD clinical care, and experiences with Commonwealth-supported disability insurance entitlements.
Because of the way the disease is passed on through a person's genetics, with a 50 per cent chance of a parent with the HD gene passing it on to their child, there are some locations in Australia, such as in Tasmania and Broken Hill in NSW, that have a higher prevalence of the disease.
"At the moment there are about 2000 people in Australia who have been diagnosed with Huntington's disease. Now because it's a genetic disease, it means there's another, at least, 2000 people that are at risk of developing the disease as well," Dr Glikmann-Johnston said.
"Once we [map HD] we can then build to improve the services for those people."
- The registry has just clocked its first 100 participants across all states and territories. Add your experiences to the map here.
