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The road to a rare disease diagnosis is often filled with unexpected twists and turns. For Cara, it was a television show that was the surprising catalyst for her son’s genetic diagnosis. 

While Finn was thought to have a genetic abnormality before birth and experienced some complications after he was born, no specific genetic irregularity was identified. He appeared to be a healthy, cheerful baby boy.

It wasn’t until several months later when Finn began to experience issues including gagging, choking, and vomiting, that Cara become concerned again that something might be wrong.

“Nothing was detected in routine testing, but I knew something wasn’t right,� Cara said.

“Not long after, I was watching a medical documentary series when something struck close to home. A child diagnosed with Noonan Syndrome on the program presented with very similar symptoms to Finn.�

Cara made an appointment with her local GP to talk through her concerns and was referred to the Genetics Department at Sydney Children’s Hospital, Randwick (SCH), where Finn underwent further genetic testing. A PTPN11 gene mutation was discovered, and Clinical Geneticist, Dr Emma Palmer, diagnosed Finn with Noonan Syndrome. 

Noonan Syndrome is a genetic condition affecting development in various parts of the body. It can result in indistinctive facial features, heart defects, short stature, developmental delays, and other health issues. 

For Finn, the condition impacts him mildly, but in other cases, its effects can be more severe. 

While there is no cure for Noonan Syndrome, early intervention and management of symptoms can help improve the quality of life for those affected, and many children diagnosed with the condition go on to lead normal lives.

For families like Finn’s, navigating life with a rare disease, as well as the ongoing management required, can be challenging. Fortunately, they were able to lean on the Navigator Project to help support them through this journey. 

was established in mid-2023 in collaboration between Rare Voices Australia, Sydney Children’s Hospitals ÐÇ¿ÕÌåÓý and Child and Adolescent Health Service Rare Care Clinical Centre of Expertise for Rare and Undiagnosed Diseases at Perth Children’s Hospital.

The project aims to bridge the gap in access equity, and to provide much-needed navigation support to help better define care pathways for those living with a rare disease.

“The team at SCH have been incredible. From extremely thorough phone conversations with genetic counsellor, Carolyn Shalhoub, to care coordination through Kids Guided Personalised Services helping us avoid frequent trips to Sydney, we are so grateful for the care and support we’ve received,� Cara said.

“With the right supports in place from SCH and our local paediatrician, Finn is now a bright, energetic young boy, just like his peers.�

SCHN is one of the two sites trialling a ‘telehealthâ€� nurse navigation service, providing targeted nurse-led support for families with a rare disease who are particularly struggling to access appropriate services. 

“The Navigator Project will hopefully bridge the gap between a huge unknown world of genetic conditions and a child’s specific health concerns. This is so important because it can help reduce health risks and ensure that more children receive the right care promptly,â€� Cara said. 

“I think the Navigator Project will be a go-to for all parents learning about rare genetic disorders.�