It's a rare and little understood neurological disorder, that hampers a child's development, and ultimately shortens life expectancy.
Just a handful of Australians have been diagnosed with Beta Propellor Protein Associated Neuro Degeneration - or B-pan.
And today many of those families met in Melbourne to launch the nation's first research program into the condition.
For more from ABC News, click here: https://ab.co/2kxYCZY
If you're in Australia, you can watch more ABC News content on iview: https://ab.co/2mge4KH
Go deeper on our ABC News In-depth channel: https://ab.co/2lNeBn2