Video: Diagnosis: A parent’s perspective

July 21st, 2017

At a very early stage Mike and Helen Tozer could see the challenges with their son Josiah’s development – across the board Josiah was missing milestones. They were very concerned to understand the cause of the delay.

It took time and a great deal of parental persistence before testing for Fragile X was done, and a diagnosis of Fragile X syndrome was finally made.

In this 3-minute  Mike’s message to healthcare professionals and GPs when faced with a young child with developmental delay is twofold. Firstly, to strongly consider FX testing early in the process. And secondly to get a real understanding of a family’s history of any conditions related to Fragile X.

Many thanks to for producing this video for Fragile X Association of Australia.


World Fragile X Day!

World Fragile X Day: 22 July: Celebrating individuals and families who are living with Fragile X and acknowledging the work being done to ensure early diagnosis and future treatments.

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