New expert panel hoping to unlock mysteries of undiagnosed diseases.

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.

Program finds early success

The Undiagnosed Diseases program only started in April but there has already been a success story.

Seven-year-old Lily Fretwell was the team’s first patient and was diagnosed in just over a fortnight with an extremely rare genetic condition, called Trichohepatoenteric syndrome.

Her mother Dorota Fretwell said there were only about 45 cases in the world so there was little cumulative knowledge about the condition or the prognosis.

But the diagnosis has allowed her to share experiences with other affected families.

“All over the world I’ve managed to get in touch with people and ask questions from what I believe are the experts,” she said.


“They are the ones that have lived it longer. So definitely, that has helped.”

Like Jess Jackson, Lily is also small for her age and has been in and out of hospital since developing severe hyperglycemia as a newborn.

Family cautious after three misdiagnoses

Jess is the panel’s second patient and her mother Heidi McNair said she was trying not to get her hopes up.

The family has had three previous diagnoses, which all proved to be wrong.

Jess is doing well in year six at school but has to take growth hormones to try to boost her height and weight and will likely have to go undergo cosmetic surgery in the near future.

Perth’s Undiagnosed Diseases Program is the first in the country, but the movement is spreading to other states.

Last month in Sydney, Dr Baynam and Professor Dawkins addressed a workshop of clinicians interested in setting up similar panels.

“Probably the first to make an official announcement will be New South Wales but there are also units being established in Queensland, Victoria and South Australia to ensure that we have a cohesive approach to undiagosed diseases in Australia,” Professor Dawkins said.

Nine children will take part in the WA program this year.

This post originally appeared on ABC News.

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