Cracking the Code

by Dr Leah Kaminsky, Stephen Damiani, Sally Damiani

A family doctor shares a mother and father’s determination to save their sonThis 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 finding a cure.Cracking the Code is simultaneously a wonderful family memoir and the story of some mind-blowing discoveries in medicine.

320 pages, Kindle Edition

First published April 1, 2015

Reviews

[Antony · Rating 5 out of 5]

Cracking the Code is an inspiring story of how parental love and determination helped save a little boy from a mystery disease using some mind blowing science. I saw this family on Australian Story a couple of years ago and absolutely fell in love with Massimo's gorgeous smile. The book provides an incredible insight to the seemingly endless onslaught of financial, medical and personal challenges needing to be overcome. It is an intense read where even the most hardened will find themselves welling-up on occasion. Well written with the perfect balance of science that will make you want to hug your children a little more every night.

[Heidi · Rating 3 out of 5]

The subject matter of this book was fascinating... and I was amazed at what this family managed to achieve in the medical and scientific worlds for the sake of their son... but the writing quality wasn't the best. I found it difficult to follow the book at times primarily because the writing jumped around a bit. But it was an AMAZING book and anyone interested in medical and scientific advances would find it interesting I believe.

[Helen · Rating 5 out of 5]

This book is brilliant. As someone with an interest in genetics who works with children with disabilities, I was entranced by the family's passion to find out what was wrong with their son, and how to help him.
And they are Australian, though it took some of the world's best minds to solve the problem.