When Massimo Damiani was a baby he hit every milestone perfectly. He started crawling, pulling himself up into standing position and trying to walk. He loved learning to swim.
Then it all stopped.
Just before he turned one, Massimo started having trouble sitting and when he'd try to pull himself up into standing position he seemed to have lost his leg strength and couldn't do it. He'd cry in frustration. He started having trouble with balance in general and kept on thrusting his head backwards.
His parents Sally and Stephen were concerned. They took their son to the family doctor in Melbourne who was at a loss to explain Massimo's childhood illness.
Massimo was tested for everything doctors could think of but it all came back negative. Meantime his condition continued to deteriorate. He had trouble eating and drinking. He'd choke often.
His parents came to terms with the fact they might lose their son before his second birthday. Doctors eventually diagnosed him with neurological disorder but the condition was so rare it didn't have a name. The problem was that without a proper diagnosis his condition couldn't be treated.
Stephen and his wife decided to have genetic testing done. He, his wife and Massimo had their genome sequence mapped. The only problem was they needed to find a doctor qualified to read the data and hopefully discover just what Massimo was suffering from.
That's when they met Doctor Ryan Taft at the University of Queensland's Institute for Molecular Bioscience who used genome sequencing to discover that then three-year-old Massimo was suffering from a previously unknown congenital disease.
