Cracking the Code

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A family group doctor shares a mom and father's perseverance to save their child. This story of an father's search to find a diagnosis and ultimately a cure for his son's secret disease is an motivation that has arranged the world of hereditary medicine and research abuzz with the options for future years. After Breaking the Code screened on Australian History, Stephen Damiani and his remarkable standard family have been inundated with information of support for Quest Massimo. Stephen has a qualifications in building economics and risk management. He teamed with geneticist Ryan Taft to map his family's genome so that they can discover the cause of his son's disorder and in the process developed a diagnostic tool that will revolutionise diagnoses and treatments of diseases as sophisticated and exceptional as Massimo's leukodystrophy to wide-spread diseases, such as diabetes and coronary disease. Previously, trying to find a particular gene mutation that could be responsible for an illness was a million times harder than locating a needle in a haystack. Stephen's suggestion that Ryan align the genomes, or DNA plans, of himself; his wife, Sally; as well as Massimo to find any unique variations and thereby produce a smaller haystack once was untried. Stephen persuaded Massimo's neurologist, Dr Rick Leventer at Melbourne's RCH, that it was just a circumstance of technology, figures, data, and money, but maybe it's done. Once Taft could find and isolate the precise hereditary mutation of Massimo's DARS gene, the hunt was to find other children with the same hereditary mutation so the diagnoses could be confirmed. With the help of Dr Adeline Vanderver at the Children's National Clinic in Washington DC, along with Prof. Marjo van der Knaap and Dr Nicole Wolf in Amsterdam, they were able to find several other children with DARS mutations and have now shifted to another phase of Quest Massimo: finding a remedy. Breaking the Code is simultaneously a wonderful family memoir and the storyline of some mind-blowing discoveries in medicine.


Category: Special Needs

Details

Publisher

Audible Studios

Language

English

ISBN

DATE

2015-07

Author

Stephen Damiani

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