Cracking the code

If you’re the parents of 6-year-old Massimo who has been diagnosed with a rare brain disorder, so rare it has no name. And all you’re told is that the myelin, the insulation that surrounds the nerves of the brain is missing or breaking down. What do you do?

Massimo's developmental milestones stopped and he was regressing. He could not stand or speak. Stephen and his wife Sally were losing their son; and his prognosis was dire.  

This is a story of a father's search to find a diagnosis, and ultimately a cure, for his son's mystery disease. The family teamed with geneticist Ryan Taft to map their genome in an attempt to discover the cause of their son's illness and in the process developed a diagnostic tool that will revolutionise diagnoses and treatments of diseases as complex and rare as Massimo's leukodystrophy.

Previously, trying to find a specific gene mutation that might be responsible for a disease was a million times harder than finding a needle in a haystack. Stephen, Massimo's dad suggested that Ryan align the genomes, or DNA blueprints, of himself, his wife Sally as well as Massimo, to find any unique variations and thereby create a smaller haystack was previously untried. Stephen convinced Massimo's neurologist, Dr Rick Leventer at Melbourne's RCH, that it was just a case of technology, statistics, data, and money, but that it could be done.

Once Taft was able to locate and isolate the specific genetic mutation of Massimo's DARS gene, the hunt was on to find other children with the same genetic mutation so that the diagnoses could be confirmed. With the help of Dr Adeline Vanderver at the Children's National Hospital in Washington DC, along with Prof. Marjo van der Knaap and Dr Nicole Wolf in Amsterdam, they were able to locate several other children with DARS mutations and have now moved on to the next phase of Mission Massimo: finding a cure.