By Claire Moodie.
What Jess Jackson lacks in size, she more than makes up for with inner strength.
The 11-year-old, from the southern Perth suburb of Baldivis, is small for her age. In fact she is as light as the average six-year-old because of a mystery condition that has baffled doctors for years.
She was born with multiple medical problems that have twice required cranio-facial surgery. The first time the entire back of her skull was removed.
But doctors have not been able to diagnose her rare condition.
Now her case has been taken up by a new panel of specialists in Western Australia, brought together to tackle undiagnosed, complex diseases.
Director of the Undiagnosed Diseases Program, clinical geneticist, Gareth Baynam, says a diagnosis would allow Jess’s treatment to be targeted.
“If we can say ‘look, it’s this particular condition and it’s due to this particular gene change’, from that new knowledge we can then say there’s a drug that we didn’t think about before,” Dr Baynam said.
190,000 West Australians affected by rare diseases
Doctors say the approach makes economic sense. Rare diseases only affect 6 to 8 per cent of Australia’s population, but their cost to the health system is believed to be at least three times higher.
Rare diseases are defined as conditions that are usually genetic in origin and affect fewer than one in 2,000 people.
They have been identified as a public health priority because they collectively affect up to 190,000 West Australians, including 63,000 children.
Director of the Office of Population Health Genomics, Professor Hugh Dawkins, said the multi-disciplinary clinic is a game-changer in solving some of the state’s most difficult cases.
“A diagnosis is really the beginning. It’s the doorway to best care.”
One tool being used by clinicians to assist with reaching a diagnosis in undiagnosed patients is 3D facial modelling.
The 3D camera scans the faces of patients and software developed at Curtin University helps to pinpoint the subtle features, often not visible to the naked eye, that are characteristic of different rare diseases.
Doctors have been scanning the faces of people, mainly young children, with diagnosed and undiagnosed conditions to create sets of reference scans to try to identify the markers of rare diseases.