A family doctor shares a mother and father's determination to save their
son. This story of a father's search to find a diagnosis and ultimately
a cure for his son's mystery disease is an inspiration that has set the
world of genetic medicine and research abuzz with the possibilities for
the future.
After Cracking the Code screened on Australian Story, Stephen Damiani
and his extraordinary ordinary family have been inundated with messages
of support for Mission Massimo.
Stephen has a background in construction economics and risk management.
He teamed with geneticist Ryan Taft to map his family's genome in an
attempt to discover the cause of his 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
to widespread diseases, such as diabetes and cardiovascular disease.
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's suggestion 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 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.
Cracking the Code is simultaneously a wonderful family memoir and the
story of some mind-blowing discoveries in medicine.
