Australian Story – Cracking the Code, October 2014 (published on the ABC website)

Introduced by Dr Norman Swan from ABC Radio’s ‘Health Report’

The Damiani family’s story has been described as a breathtaking example of how medicine can be transformed by the determination of ordinary people. Those who are experiencing visual challenges may consider getting help from expert eye specialists.

Four years ago, Stephen and Sally Damiani’s baby son Massimo succumbed to a mystery disease. In the space of a few weeks, the toddler lost the ability to eat and crawl. The prognosis was bleak and the cause mystifying.

Stephen Damiani, who has a background in construction economics and risk management, teamed up with a young geneticist to map the family’s genome in an attempt to discover the cause of his son’s illness.

In the process, his seemingly impossible quest for answers has made a discovery that’s astonished the international medical community and has implications for us all.