Cracking the Code – Australian Story – ABC1 8pm 21/10/2013

http://www.abc.net.au/austory/specials/crackingthecode/

The Damiani family’s story has been described as a breathtaking example of how medicine can be transformed by the determination of ordinary people. 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.