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Diagnosis Day - Full series out now

A seven-episode series following Aussies with rare genetic conditions, as they search for answers, options and community.


This year, one of our NPC families participated in the Diagnosis Day series produced by Melbourne Genomics and Genetic Support Network Victoria. It is a fantastic series demonstrating the journey and patient-perspective of various families with different genetic conditions. Meet six Aussie families, including our NPC Warrior Noah, who live with ultra-rare diseases. This micro-series follows their search for answers, options and community.


The first steps from the clinical geneticist’s room can be daunting and lonely. You have received information that will have an indelible mark on the lives of you and your family. Author: Isaac Hockey, Genetic Support Network of Victoria

Watch the trailer below:

Released weekly, the entire series is now available to watch online.


We commend all the brave families who opened their hearts and homes to share their stories, with special thanks to Noah and his family. Raising awareness and increasing clinician understanding is incredibly important.


To help families like Noah's around Australia, as well as fund vital research for a cure... Support the Australian NPC Disease Foundation in its goals of "Research. Cure. Persevere."


Ways to support NP-C in Australia:

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