Stories from patients

Meet people whose lives have been changed by genomics.

Edward's story

For paediatric doctor Cara, understanding the cause of her son Edward’s kidney disease was crucial.

Susan's story

The day after Susan Shorter’s last immunotherapy session, she and her husband Brian got in their caravan and headed off to the holiday home they’d never had a chance to see.

Charlie and Rosie's story

Genomic testing discovered the ultra-rare reasons for Charlie and Rosie’s mystery illnesses. 

Tess' story

Tess underwent genomic testing at Austin Health to inform a potential kidney transplant. Nothing but a genomic test would've given her an accurate diagnosis.

Bree's story

Bree had a vital question before she could have the child she wanted. Genomics gave her the answer.

Laura's story

Laura’s diagnosis was hard news for her parents, but also empowering.

Michael's story

Michael was initially diagnosed with terminal cancer. Genomic sequencing of the tumour changed his diagnosis, his treatment and his life.

Tyler and Hayden's story

Brothers Tyler and Hayden had been in and out of hospital for most of their young lives. Genomics found the underlying cause of their illnesses, which was cured with a bone marrow transplant.

Ollie's story

Shortly after Ollie’s birth, things went wrong. Genomic sequencing identified a rare genetic skin condition.

Louis' story

Louis was not expected to survive his diagnosis of Leigh disease – but against the odds, the particular gene change responsible meant that his condition was treatable.

Ariana's story

At eight months old, Ariana began having seizures and would stop breathing. A genomic test found a condition that was completely treatable with riboflavin.

The McMahons' story

“For two and a half years, my husband Tim and I had no idea why our beautiful little ray of sunshine had so many issues. It is a huge relief to be able to now say to people: ‘she has Kleefstra syndrome’.”

Heather's story

Heather’s long search for answers about her daughter’s condition has made her an advocate for both genomic testing and better support for parents of children with undiagnosed illnesses.

Anisa's story

Reanalysis of Anisa’s genomic data provided new answers about her condition.

All stories are shared with the consent of the people involved. Most names have been changed for privacy purposes.