Sunday 3 December 2017

The Undiagnosed Disease Program: The Search For a Diagnosis

As Heidi McNair made the long journey to Perth for another day of gruelling tests and appointments for her daughter Jessica, their tired, beat-up Daewoo Lanos, with the leaky roof and sticky clutch, began to stall. 

The spluttering back and forth motion of the vehicle – an upsetting imitation of McNair’s state of mind at the time – was enough to force her to the emergency lane of the freeway where the car rolled to a stop. As her daughter rested quietly in the back, McNair unbuckled her seatbelt, climbed from the driver’s seat, sat alone on the asphalt, and wept.

She called her mum from the side of the road. “I can’t do this anymore, it’s too hard. Why me? Why us?”

You see, Heidi and Jessica have a unique story, a collection of stories actually. About a girl who wasn’t expected to live more than a few days. A girl who was given no chance of walking or talking. A girl who is significantly undersized for her age. A girl who suffers from a disease that cannot be diagnosed.
Jessica Jackson at her home in Baldivis
Jessica is a medical mystery. Just ask Gareth Baynam.

Baynam is the clinical geneticist behind the Undiagnosed Disease Program. The UDP is an Australian-first initiative aimed at uncovering and ultimately diagnosing children who have unknown or rare diseases. Unfortunately, Jess’s case has him and his team still searching for answers.

“We really wish we could get a diagnosis for Jess,” he says. “We are still following up some leads. We are reviewing our gene test data following a suggestion from a doctor in the USA. We are also reviewing information with the aid of our knowledge management platform called ‘Patient Archive’. This is a new approach to share information with other experts around the world, in the hope we get an answer for Jess,” he says.

Heidi McNair doesn’t seem as hopeful.

“Everyone dreams of having the perfect child, maybe the next Bonds baby competition winner. No one wants their child to endure feeding tubes and hospital stays, or carry the scars from treatment - both physical and mental - around for the rest of their life. I'd just love an answer now. But I don’t think we’ll ever get one,” McNair says.

Unfortunately, Jess's story is only one example of the many which share a disturbingly common story. Each unique in its own right, but remaining loyal to the same overarching themes - frustration, anguish and the unknown.

The UDP was established in Perth in 2016, with some telling statistics supporting their work. Like how there are enough children with rare diseases in WA that if you got them all together, they would fill the new 60,000 seat Perth Stadium. Or that a third of rare disease sufferers have waited somewhere between 5 and 10 years for an accurate diagnosis. Most severe chronic undiagnosed diseases are rare diseases.

IMG_1675
A handwritten note to UDP families in WA from Molly Meldrum. Photo provided by Gareth Baynam















Baynam, the Director of the UDP and Australia’s International UDP Network, is trying to change that. A cheerful man and father to two children, his wide smile and endearing eyes offer a point of difference from the sometimes glazed over, expressionless facades of many medical professionals. We talk about his beacon of hope: the UDP.

It was established as a paediatric-based program offered only to seriously ill children. "It aims to find diagnoses for children with long-standing severe and complex conditions who have remained undiagnosed after lengthy testing and medical evaluations for nameless diseases that are devastating their lives. A diagnosis opens the door to treatment,” he says.

The program has been running for almost two years, has seen nearly 20 patients, and has a successful diagnosis rate of around 50%, a number Baynam admits is a bit of a surprise. A welcome one though, and a platform to build on.

And the surprises don’t stop there.

The UDP is laying the foundations to expand with the transitional Undiagnosed Disease Program aiming to see patients between the ages of 16 and 25 from early next year. Baynam will direct the program, with experienced senior medical researcher Lauren Dreyer signing on as program manager. Dreyer is based at Linear Clinical Research in Nedlands. I find her tucked away in a small office, and quickly notice a stark contradiction between her workspace and the enormity of the plans and ambitions she has for the program.

During our discussion about the UDP and prospective tUDP, she mentions a Formula One racing analogy that intrigues me. “Essentially the UDP is the peak of what we’re capable of in the field of genetics, just like Formula One is at the forefront of the motor vehicle industry,” she says. I push for further clarification of this comparison, as I’m well aware many Australians knowledge of the Formula One landscape extends only as far as the WA bloke who drinks beer from his own shoe after races.

“Well, the hope is the research done in the UDP program will trickle down into various medical networks around Australia and even the world, like it would if Formula One made a breakthrough in the car industry,” she explains.

But with great heights, come harrowing depths. That’s where the undiagnosed sadly wait. “We acknowledge that we will not get a diagnosis for all children and we hope that if we do not, we still improve people's medical care and create some beneficial connections that help people to live the best lives possible,” Baynam says.

So, will the doors ever close on the search for Jess’s diagnosis?

Not if you ask Gareth Baynam.

Video courtesy of the ABC

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