Cracking the Code
By Stephen and Sally Damiani with Leah Kaminsky
Vintage Australia (2015)
Before Massimo Damiani’s first birthday, the baby lost the ability to crawl. He could no longer pull himself to his feet and would topple over even when sitting on the floor to play. Before that he had hit every developmental milestone, but now something was going badly wrong.
Massimo had been born with an anomaly in his spinal cord and only one kidney, but doctors couldn’t put their finger on the cause of this new condition. All they could say was that it was a previously unknown form of leukodystrophy – the loss of myelin, the electrical insulation around neurons. His nervous system was crumbling and the prognosis was bleak.
But Massimo’s father Stephen was not about to let the story end there. With no background in medical science, he teamed up with geneticist Ryan Taft to map the family’s genome in an attempt to discover what was causing his son’s regression. It seemed an impossible task. At Stephen’s suggestion Ryan began to align the genomes of himself, his wife Sally as well as Massimo, to find any variations. Stephen never gave up. He designed the plan for the unconventional search. His lack of a medical background helped him to think outside the box. And fortunately, in Taft he had a willing accomplice.
Once Taft isolated the specific genetic mutation of the DARS gene that was causing Massimo’s illness, they then found other children with the same mutation to confirm the diagnosis. The next stage was to find a cure – it has not yet been found but Massimo is engaging with the world more and more.
In the course of investigating little Massimo’s case, the Damianis, Taft and other flexibly minded doctors have pioneered new procedures for tracking down the cause of previously baffling diseases.
Co-writer Leah Kaminsky, herself a doctor as well as an award-winning author, has done a wonderful job in telling this story. The narrative drives forward, the complex medical issues are well-explained, and the love and determination of Massimo’s family shines through. The book has been optioned as a film with script development already under way.
Bill Condie is a science journalist based in Adelaide, Australia.