Mission Massimo part two: Divide and conquer

Soon after Massimo started showing symptoms Stephen and Sally Damiani made a pact. 

“Our family motto is to divide and conquer,” says Sally. “We decided very early on that he (Stephen) would pursue the diagnosis and drive that, and I would manage the treatment; the physio, the speech therapy.”

“And then the other project was to give Massimo siblings.”

From their Melbourne lounge room Stephen and Sally started reading everything they could about Leukodystrophy.

Stephen, who jokes that he failed a chemistry exam in high school, started reading Genetics for Dummies and the couple soon progressed to a range of complex scientific and medical journals with their iPads at hand Googling every second word until they understood.

“He (Stephen) literally went back to basics and started teaching himself genomics, concluding we needed a bioinformatics guru (a person who uses specialised technology to analyse data in medical fields including genetics) to perform a genetic analysis on all three of us (a familial trio analysis). We read journal articles and literally studied for every doctor’s appointment,” says Sally.

“We watched conferences online, found out who’d written papers about what and wrote to people all over the world about their findings.”

There were a lot of setbacks. Many experts wouldn’t reply, or if they did they usually said no it wasn’t possible. Analysing the sheer volume of data is something experts say is akin to ‘genetic vertigo’.

There were late nights and many days where Stephen didn’t leave the house. Their own health went to the wayside as they relentlessly pursued a cure for Massimo.

But through it all there was never a time when the Damianis stopped believing they would find the answers they needed.

Despite all the challenges ahead of them, Stephen and Sally chose to take on even more. They decided the time had come to give Massimo siblings, before they lost him, so he would be known to them as more than a photo in a frame.

After much research and consideration, Stephen and Sally found the safest option to ensure Massimo’s condition didn’t affect their other children was to go through a donor IVF (in vitro fertilisation) pregnancy.

But in their home state of Victoria it is unlawful to buy a donor egg. Instead, families rely on the generosity of strangers for donations.

Wanting to waste no time, Stephen and Sally decided to travel to the US for the procedure.

After months of planning and the ordeal of travelling to the other side of the world, the transfer didn’t take.

The news compounded with a lack of diagnosis for Massimo was extremely hard for Stephen and Sally.

But again, they refused to give up. After a few months they tried IVF again – this time for twins.

Instead of travelling to the US, they had the embryos transported to Australia. Within days, tests revealed Sally was pregnant – with twins.

One mission accomplished, now their full attention was back on finding a diagnosis and cure for Massimo.

Find out how serendipity played a role in the breakthrough diagnosis.

Back to top