A family has been given valuable time with their baby after New Zealand doctors and scientists were able to rapidly diagnose her with an incurable disease.
Each year, hundreds of New Zealand children are born with critical illnesses which defy diagnoses. With 7000 rare diseases in existence, even the most experienced doctors can be stumped when a newborn is struggling for survival.
This baby in neonatal intensive care at Auckland City Hospital has Baraitser-Winter syndrome, a disease that affects the development of body parts, including the face and brain.
"Fewer than 100 cases of the disease have been reported worldwide and sadly Baraitser-Winter syndrome is not curable," director of the University of Auckland's Liggins Institute Professor Frank Bloomfield says.
Doctors were able to diagnose the baby within 72 hours by using genome sequencing to find a genetic mutation linked to the disease, therefore avoiding unnecessary medical procedures.
"In this case, the testing gave the family certainty, and avoided unnecessary medical procedures, letting her parents spend as much time with her as possible," Prof Bloomfield says in a statement.
The Liggins Institute is looking at the potential for New Zealand to offer this type of testing routinely.
In this case, doctors had to send blood samples from the baby and her parents to Australia for analysis.
"Rapid diagnosis provides certainty for the family in highly stressful situations in which they often are expected to contribute to major decisions about provision of care," Prof Bloomfield and his colleagues wrote in the study.
The team led by Prof Bloomfield included Dr Kristina Sibbin and colleagues from Auckland City Hospital along with academics from the university's School of Biological Science, and the Liggins' Professor Justin O'Sullivan and Dennis Nyaga.
"While the COVID-19 pandemic familiarized the public with rapid genomic tests for tracing chains of infection, people know much less about the potential for improved medical treatment," says Prof Bloomfield.
