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Personal stories

Patients and the parents of patients have kindly shared their personal experience with genomic sequencing. We thank these individuals and families for sharing their stories in order to help others.

 

 

Ollie's story

Ollie was only a few hours old when his parents and hospital staff realised there was something wrong. …

Louis's story

At just five months old, Louis was diagnosed with a terminal and very rare condition known as 'Leigh disease'. …

Ariana's story

Patient ‘Ariana’ was a completely healthy baby until the age of eight months.…

The McMahon story

Kate McMahon shares her story about what it is like to receive a diagnosis and how the family copes when that diagnosis is so rare.…

Heather's story

Why would I choose to have my child’s DNA sequenced? …

Anisa's story

For more than 20 years, Anisa has lived with a neuropathy (nerve disease). The type of nerve disease she was believed to have causes weakness and l…