Our Inspiration - Massimo

Allow me to introduce to you a very special little boy, Massimo Damiani.


He is a beautiful and courageous 7 year old. The son of a client of mine, Stephen Damiani and his wife Sally. For the 1st year of his life, he was progressing normally and then things began to change. What unfolded has become a story of hope and the discovery of an incredibly rare disease.


My name is Massimo and way back in July 2009 I presented with a really rare (like one in a gazillion) genetic condition, with a long funny sounding name, called Leukodystrophy.


Over the past four years a group of extraordinary people have worked tirelessly to figure out what was going on and in the process made a medical breakthrough that astonished the international medical community.

Architected by a father, who had no medical training whatsoever - just a son with a shocking illness nobody in the world could name – and executed by a young, driven, genetic scientist who also believed in this different way to look at medicine. It’s the Lorenzo’s Oil of genetic and modern day medicine


The release of the Massimo saga on Australian story catapulted the discovery into the medical world across the globe with explosive force



Australian Story

"Cracking the Code", 21st October 2013

“A breathtaking example of how medicine can be

transformed by the determination of ordinary people.

Four years ago, Stephen and Sally Damiani’s baby

son Massimo was struck down by a mystery disease.

Their seemingly impossible quest for answers has

made a discovery that’s astonished the international

medical community. And it has implications for us all.”

Norman Swan - Health Report -ABC Radio National




“After 1,161 days we achieved a confirmed diagnosis for Massimo and in the process discovered a new disorder. Both children in a family of five from the United States were confirmed as having the same genetic variations, as were several from Europe, and potentially many, many more from across the world. What was more exciting than achieving the diagnosis itself was discovering some of these children are in their teens and stable.  Massimo is no longer alone and now we have hope.”


The Goals of the Mission Massimo Foundation



• Promote awareness of childhood Leukodystrophies.

• Advocate for the adoption of next generation sequencing for new born screening.



• Reduce the number of unclassified cases to < 10% before the end of the decade.



• Create models to conduct functional studies for newly classified conditions.

• Develop vectors capable of delivering corrected genes into target cells.

• Develop patient derived induced pluripotent stem cell lines to regenerate myelin.

• Accelerate therapies from laboratory bench to human clinical trial.