Whilst we know that clinicians and nurses are those who deal with patients first-hand, behind the scenes of a patient journey usually stands a multidisciplinary team making an impact in many different ways.
The Mater Pathology department play a big role in finding the needle in a haystack when it comes to complex testing and pinpointing a diagnosis for patients right across Queensland – making a real impact on the time it takes for a patient to have clarity on their condition and sooner be on their way to recovery or management.
Inside the Metabolic Lab sits a team of scientists who make this difference on some of the state’s littlest lives, testing for complex genetic conditions to enable babies and children to receive life-saving treatment to slow or stop the progression of their condition.
Supervising Scientist of the Chemical Pathology Specialist Metabolic Lab, Avis McWhinney said one of the most common tests her team runs is on critically ill infants or newborns, screening for inborn errors of metabolism.
“Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy, so it can put infants in a very critical condition,” Ms McWhinney said.
“Though not very common, only affecting approximately one in 500 live births in Australia, these metabolic diseases play a major role in the survival of a baby in the first few days and then the development and quality of life of a child once they get older.”
With Mater performing approximately 11,000 births per year, this means it could affect 22 babies born at Mater each year.
Testing for metabolic diseases is performed through looking for various different genetic defects within the body’s biochemical pathways and is considered a complex method, with only two labs in Queensland offering this type of testing.
“Finding a diagnosis for a metabolic disease can be very difficult and essentially, it is our team’s job to pinpoint a diagnosis as accurately and as quickly as possible to ensure these little patients can get the help they need.”
For children diagnosed with a condition called Mucopolysaccharidoses (MPS), they usually appear normal at birth but then progressively develop skeletal deformities, and the loss of acquired skills.
“When we are testing for MPS conditions, it is not so much about finding a treatment for the children as sadly there is no cure and the conditions bring limited life expectancy.”
“Our role in these cases really sits with finding a clear diagnosis as early as possible to provide the patient’s family with an answer to what has been going wrong for their child.”
“Once we have found a diagnosis, it allows the patient’s clinical team to get on top of their condition and provide care that can slow the progression.”
Working as part of a team with clinicians, nurses, dieticians and scientists, the Metabolic Lab play an important role in improving the outcomes for babies and children once they have been diagnosed with a condition.
After providing a rapid diagnosis, the lab then works in partnership with the Queensland Lifespan Metabolic Medicine Service to provide ongoing testing to support the ongoing care of babies and children with metabolic diseases as they transition from children to adult healthcare.
“Metabolic diseases are undoubtedly complex and finding a diagnosis can be one of the hardest parts of a patient’s journey,” Avis added.
“But working as a team that is focused on a positive outcome for our little patients, we are able to see some very rewarding results through children living happy, healthy lives as they manage their conditions.”