[ASC-list] 10 Free Double Passes to Cracking the Code: Brisbane Launch

Ashley Hay ash_hay at bigpond.com
Sun Apr 12 23:43:43 UTC 2015

Join Stephen and Sally Damiani for the Brisbane launch of Cracking the Code.

Tuesday 21st April 6pm for a 6.30pm start

Avid Reader Bookshop

193 Boundary Street West End

TEN FREE DOUBLE PASSES AVAILABLE: RSVP to events at avidreader.com.au and mention "BASW2014"
Other tickets available for $7.50: RSVP ONLINE or 07 3846 3422

Stephen and Sally Damiani with Dr Leah Kaminsky
A family doctor shares a mother's 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 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.

Cracking the Code is simultaneously a wonderful family memoir and the story of some mind-blowing discoveries in medicine.


Like most young fathers Stephen had never heard of white matter disorders until the early morning of Friday 24th July 2009 when his son was diagnosed based on diffuse signal abnormalities identified through magnetic resonance imaging. Since that day Stephen has worked relentlessly to understand every aspect of white matter disorders, from diagnosis through to treatment. When confronted with the possibility he may never learn the cause of his son’s condition Stephen dedicated himself to achieving a diagnosis and sought the best researchers to assist with Mission Massimo. After 1,161 days the gene responsible for Massimo’s condition was identified and a new white matter disorder classified with the findings published the American Journal of Human Genetics (AJHG). As a result of his efforts Stephen has been invited as an Australian representative on the Global Leukodystrophy Initiative (GLIA).

Sally is the mother of Massimo and his younger twin brothers Marco and Leonardo. Like her husband Stephen, Sally has poured her efforts into understanding all that she could about Leukodystrophy since first hearing the term in July 2009. Whilst the focus of Mission Massimo is to support researchers and clinicians to find treatments for paediatric white matter conditions, Sally’s main mission is keeping Massimo happy and healthy whilst they hope for a future treatment that may arrest the development of Massimo’s disease or possibly reverse its debilitating effects.

Leah Kaminsky is an award-winning physician and writer. She is Poetry & Fiction Editor at the Medical Journal of Australia and Online Editor at Hunger Mountain. She conceived and edited Writer, M.D., an anthology of contemporary doctor-writers. She holds an MFA in Creative Writing from Vermont College of Fine Arts, and was shortlisted in the Faulkner-Wisdom Novel Writing Competition.

Leah has been the Damianis' physician since Massimo was born and was the first person to be alerted to the fact that there was some kind of problem when he was an infant. In September, her first novel The Waiting Room, will be published.

For more information about this or any other Avid Reader event contact Krissy or Nadia on 07 3846 3422 or events at avidreader.com.au

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