by Liam Croy
A Perth family devastated by a rare genetic disorder has been thrown a lifeline by a world-leading research program in Italy.
Simon and Samantha Daff were at their lowest ebb in November when their newborn son Jackson was diagnosed with metachromatic leukodystrophy.
The heartbreaking news came weeks after they learnt their eldest daughter Mackenzie, 4, had the disease.
The shock of Mackenzie’s diagnosis was compounded by the uncertainty it cast over the impending birth of their son.
An estimated one in 40,000 children are born with MLD, a cruel degenerative condition with no known cure. Both parents must carry the defective gene and even then it will only affect one in four children.
It destroys the body’s myelin sheath, a membrane which insulates nerves. A breakdown in communication between the brain and the nerves leads to a cruel and debilitating progression.
Children with late infantile MLD are expected to live to five, while the juvenile form gives them 10 to 15 years after the onset of symptoms.
The Daffs’ worst fears were realised when tests confirmed Jackson was the second of their three children with MLD.
There seemed to be little hope for them when they spoke to The West Australian in November.
Mrs Daff had heard about a gene therapy trial for infants in Italy but she knew those treatments happened in 2010.
It was not until a US family reached out to them after reading their story that she realised Jackson could still be eligible.
“We spoke to a family in America who had three kids diagnosed with it,” Mrs Daff said.
“Two kids got gene therapy and they’re pretty much living symptom-free at seven years of age when their sibling passed away at about five.”
“They can’t tell us what’s going to happen in 10 years or 20 years because they’re the first ones to go through this but the results have been good enough for this compassionate use program to be set up.”
The Daffs made the difficult decision to hold off on a stemcell transplant for Jackson and pin their hopes on gene therapy.
It paid off this month when they got confirmation from the San Raffaele Hospital in Milan.
“We went from not sleeping at all to getting the news — I haven’t slept as good as I did that night in a while,” Mr Daff said.
It is understood Jackson will be the first Australian to receive the treatment. His procedure in Italy will be similar to the one Mackenzie had in Perth in February. Mackenzie’s stemcell transplant was made possible by another stroke of good luck, when scans showed the disease was yet to reach her brain.
She was admitted to hospital for chemotherapy on February 6 and left last month.
She showed her sense of humour last week by chiming in with a quick remark about her sister, Ashley, 2, when it appeared she was asleep on her father’s lap.