Massimo's parents were leading research to cure his disease. Then, he tragically died.

It was just two days after Massimo Damiani’s first birthday, in July 2009. It should have been a joyful time for his parents Sally and Stephen. But instead, the Melbourne couple were given the worst possible news about their beautiful little boy.

Doctors told the Damianis that Massimo had a leukodystrophy. It was a rare degenerative disorder that would rob him of all his senses, and then take his life.

“It could be as quick as 18 months to three years,” Sally tells Mamamia. “But they didn’t know.

“It was awful, the scariest thing to hear as a parent. One point you’re celebrating his first birthday, and then you’re like, ‘Oh my gosh, how many more of these birthdays are we going to have?’”

Sally and Stephen could see that there was something very wrong with Massimo. Their little boy was starting to go backwards in his development.

“He wasn’t walking yet, but he was cruising furniture, and he stopped being able to do that,” Sally remembers. “He stopped being able to support himself, to sit. He had a couple of words, which went. He was crawling and then he just got slower and slower till he couldn’t anymore.”

A leukodystrophy wasn’t a definitive diagnosis, just a term meaning “lack of myelin growth” in the brain. Without that definitive diagnosis, there was no hope of finding a treatment for Massimo. So Sally and Stephen decided to start researching one themselves – even though neither of them had a medical background.

“We had to do something for our son. We didn’t want to just go, ‘Oh, well, we don’t know what it is, we’re just going to wait.’

“It wasn’t even, ‘Should we do this?’ We just both wanted to do it.”

Stephen had the idea of using whole genome sequencing to come up with a diagnosis, making use of his, Sally’s and Massimo’s genomes. But he didn’t have the expertise to do it himself. Then the family’s GP introduced them to Dr Ryan Taft, a bioinformation who could help them. Dr Taft did the work, in his spare time, over nine months, for free. And at the end of it, the Damianis had a diagnosis. It was a new disease.

“It was like winning the lottery,” Sally says. “We had something we could start to understand and unpick.”

Now work on finding a treatment for the disease, HBSL, could begin. Sally and Stephen had formed the Mission Massimo Foundation to fund the research needed.

Meanwhile, the Damianis had been making sure Massimo was enjoying his life as much as possible. Sally had given birth to twin brothers for Massimo, Marco and Leo.

“When I look back now, I go, ‘Oh, I can’t believe I did that so soon!’ But it was 100 per cent the best decision we ever made. They really properly grew up together and have tangible memories.”

Even though Massimo couldn’t walk or talk, Sally says he was “very happy”.

“He loved swimming. He felt weightless in the water. He loved being outside. If it was really windy or raining, he loved the sensation of it all. We’d do lots of walks on the beach. He loved eating chocolate and ice cream. We’d go to our local bakery and get chocolate croissants every week, which were a favourite. He liked being active, having fun. He loved music. He loved The Wiggles when he was one and still loved The Wiggles when he was nine-and-a-half.”

Last year, things were going well for Massimo.

“He was fabulous and so good,” Sally remembers.

Then, 10 days before Christmas, in the early hours of the morning, Massimo passed away in his sleep. He was nine years old.

“We’re obviously devastated. It’s the last thing we expected. We genuinely thought we had time on our side, so we were quite blindsided.”

But the couple never considered giving up their work with the Mission Massimo Foundation.

“It didn’t really cross our minds to stop,” Sally says.

Already, the work done by the Damianis and Dr Taft has helped other children – and not just ones with the same disease as Massimo.

“The process that Ryan developed to diagnose Massimo, that’s been reused quite a lot. At last count, they’d diagnosed well over 100 children using his process and discovered eight other new conditions.”

While it used to take years to diagnose children with these disorders, it can now be done in as short a time as 24 hours.

“That is a huge impact in the world of rare disease,” Sally says. “Ryan calls it The Massimo Effect.”

Their son has left an amazing legacy.

“He achieved quite a lot for nine-and-a-half years and had a huge impact. That makes us proud. It doesn’t bring him back, but it’s nice to know he’s done so much.”

You can the support the work of the Mission Massimo Foundation here.