Medical project aims to make life easier for kids with rare diseases

Story by Alanah Frost, Herald Sun
Images by Jay Town, Herald Sun

More than 15,000 Australian children are diagnosed with a rare disease each year but now a new program is set to combine new technologies, specialists and testing to make their lives a little easier.

The fight to help kids with rare diseases will be made a little easier under a new program launched today, which aims to give patients a diagnosis, treatment and care within a year of them presenting.

The Rare Diseases Now (RDNow) program, funded by The Royal Children’s Hospital (RCH) Foundation, will combine new technologies, specialists and testing to give some of the country’s littlest patients a big answer.

More than 15,000 Australian children — or one in 12 — are diagnosed with a rare disease each year, but for many it can take months, if not years, for that diagnosis to come.

There are currently more than 6000 known rare diseases — 75 per cent of which ­affect children — and many have no cure. Sadly, almost a third of those kids will die before age five.

The new Melbourne-based program — run by the Murdoch Children’s Research Institute (MCRI) — hopes to give better outcomes to those in need.

Doctors, genetic counsellors, research scientists and bioinformaticians will work to give a quicker diagnosis, as well as access to state-of-the-art testing and trials.

Genomic sequencing is still not available to some families but under the RDNow program, sequencing and other specialist tests, as well as international research and treatment plans, would be available.

Professor David Thorburn, a genetics specialist at MCRI, said the program was a “step in the right direction.”

“At the Royal Children’s Hospital — each year there’s more than 5000 children trying to get a diagnosis [for rare diseases].

“So that change in the ­diagnosis strategy means we can often get a diagnosis quicker, sometimes in months instead of years.”

Little Noah Carpino, 3, was diagnosed with Niemann-pick disease, type C, at just 15 months old.

The disease means cholesterol builds up in his liver and other organs, stopping him from growing properly.

There are only 30 known cases in Australia and there is no cure, his mum Deanna Carpino said. She said the ­diagnosis turned her world upside-down.

“We walked into that room and I remember seeing the care workers … and when you see more than one person in a room you know it’s serious,” she said.

“You hear about this disease and it’s terminal.

“[And] we walked out of there and we felt like he had already died.” Ms Carpino said the RDNow program meant they would have better access to much-needed resources.