“They’re sufficiently rare that if you go to your GP you’ll get blank looks,” he said.
The conditions are also serious: Isaac suffered sudden brain damage as a result of the condition when he was nine months old. Over a year later he died from septic shock after receiving a liver transplant that was needed to save his life.
The “hardest decision” Mrs Gravina said she had to make after Isaac’s death was to put Charlize through the same operation.
“They said she’s like a ticking time bomb,” she said.
Having gone through one transplant, Mrs Gravina said she donated Charlize’s liver as she was determined to ensure her children’s ordeals would not be experienced by others.
“I’m just so happy something positive could come out of what we’ve been faced with,” she said.
Professor Alexander, who is also a senior clinician at The Children’s Hospital at Westmead, said cells from Charlize’s liver are used to help test genetic tools called vectors. These are clinically altered viruses that deliver therapeutic genes to repair faulty genes in organs like the liver.
While their work is in mouse models, a recent $25 million grant from the NSW government means the Children’s Medical Research Institute can upgrade their facilities and start producing these genetic tools at the scale and quality needed for clinical trials.
“None of these things are going to be absolute panaceas, but for genetic conditions of liver that currently require transplant, we are looking at a future where instead of replacing the liver we are repairing the one they’ve got …. in a perfect world it would be a one-off treatment,” Professor Alexander said.
Dr Leszek Lisowski, a vectorology expert at the institute, said the grant would make the facility the only place in Australia capable of producing vectors at such a scale. He said it would mean they can “go after a range of disorders”.
Dr Lisowski said it is still a long process before children can be treated, but Professor Alexander said thanks to the funding boost their ambition to cure these disorders has “realistic possibilities”.
Mrs Gravina said she was thrilled the research being done with Charlize’s liver cells could offer families like hers less difficult decisions in the future.
“It’s humbling to know so many good things have come of it,” she said.
As for four-year-old Charlize, after her second liver transplant in March 2018 she now has an “amazing zest for life”. “Her personality is absolutely extraordinary, she has me in awe when I see her play,” Mrs Gravina said.
Rachel Clun is a journalist at The Sydney Morning Herald.