Gareth Baynam and the UDP team started by examining two tall piles of Lily's medical documents
Western Australia’s recently launched Undiagnosed Diseases Program has made a triumphant start, providing a confirmed diagnosis for its first child, seven year old Lily Fretwell.
Lily was found to have a rare genetic disease so uncommon that it affects just one person in a million.
The program’s Director, Gareth Baynam says the team was pleased to have been able to provide Lily and her family with a diagnosis and that while there was no cure for her disorder, the breakthrough would ensure a clearer pathway for the management of her condition.
The diagnosis means Lily will no longer have to undergo further costly and invasive tests to determine the cause of her condition.
“This is a child who has undergone more tests and has spent a longer time in hospital in her short life than many adults would in a lifetime,” Dr Baynam explained.
“We hope that having a diagnosis means spending less time in hospital so that she and her family have more time to spend enjoying life.”
The Undiagnosed Diseases Program of Western Australia – a first for Australia – has been established by WA Health to find answers for children with long-standing, very complex, usually multi-system disorders that as yet, are undiagnosed despite intensive efforts. Often these conditions are rare diseases (diseases that individually affect fewer than 1 in 2000 people and that are usually genetic in origin).
Initially one child a month is being offered a place on the Undiagnosed Diseases program.
As part of the program participants, if necessary, attend Princess Margaret Hospital’s ambulatory care day facility to see consultants across multiple specialties and undergo tests and medical investigations recommended by the specialists.
“During the placement, the UDP team will do everything it can to try to provide a diagnosis for that child” Dr Baynam said.
“This program also allows us to draw on a coordinated international network of expert doctors and researchers.”
The UDP-WA has been modelled on a highly successful US program which began in 2008 and has provided diagnoses for about 25 per cent of its cases and discovered close to 60 new and rare genetic conditions, paving the way for new medical treatments.
Lily's story with the UDP has been featured on Channel 7 (external site) and Channel 9 (external site).
Watch Gareth Baynam discuss the program below.