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.