Mission Massimo part three: The breakthrough

It was a routine trip to the family doctor, or serendipity, as Sally calls it, that ended up being a turning point in the Damiani’s quest to diagnose Massimo’s illness.

At the GP one day the family doctor, Dr Leah Kaminsky, mentioned an associate’s husband was a bioinformatician - the missing piece of the puzzle needed to help read Massimo’s genome.

Dr Leah Kaminsky offered to introduce Stephen and Sally to Queensland-based scientist Dr Ryan Taft by email.

“He agreed to have a chat with my husband and I think he thought Stephen was going to say ‘What’s a genome?’ and be really basic but Stephen had been studying for a year and a half about what this stuff was. He was almost at the point of buying a super computer to do it himself,” says Sally.

Stephen and Dr Taft spoke in depth about what needed to be done and he agreed to do the work as a side project after hours.

To help narrow the field Stephen and Sally proceeded to have their own genomes sequenced for the familial trio analysis. After many late nights and a lot of lost sleep, Dr Taft essentially analysed all three of our genomes in parallel and identified a variant that he thought was causing Massimo’s condition.

It was a breakthrough moment – Dr Taft had discovered the gene responsible was one called DARS.

Massimo in walker

“That night when we went to bed and Stephen said ‘The next part’s going to be so much harder’,” says Sally.

“The analogy is that we went to we went to the Moon, now we have to get to Mars.”

On hearing the news Stephen and Sally excitedly emailed doctors and experts from around the world.

But they heard nothing for two weeks.

“The elephant in the room was that there was only one patient they knew of who was affected,” says Sally.

Their next mission was to find another Massimo.

Find out how cracking the code changed hundreds of lives. 

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