Navigating a rare disease diagnosis

Hand holding

An estimated two million Australians are living with a rare disease, yet models of care tend to be complex and navigating the health system can be challenging. Steps are being taken by Sydney Children’s Hospitals Network to help close this gap through involvement in The Navigator Project.

The Navigator Project, led by Rare Voices Australia (RVA) in partnership with SCHN and Child and Adolescent Health Service Rare Care Clinical Centre of Expertise for Rare and Undiagnosed Diseases at Perth Children’s Hospital, aims to improve equity of access and service management for those living with a rare disease.

RVA has been named the recipient of the Rare and Complex Disease Telehealth Nurse Program grant, and the Australian Government will fund up to $2.48 million to support the project over three years.

Dr Emma Palmer, Clinical Geneticist at Sydney Children’s Hospital, Randwick, will be part of SCHN’s component as one of the two sites that will trial a ‘telehealth’ nurse navigation service, providing targeted nurse-led support for families with a rare disease who are particularly struggling to access appropriate services.

These include for example families where English is not their first language, families of Aboriginal or Torres Strait Islander heritage, families with low incomes and families in rural and regional communities. 

"I see children with rare diseases every day and the impacts are immense, from the complexity of conditions to inequity of access to specialised care. Service navigation is key to supporting these families,” Dr Palmer said.

“This trial site not only aims to improve the family journey, particularly for those from priority populations, but also to understand how best to facilitate access for all families with rare diseases to key services and share that knowledge with other care navigators and services across Australia. Knowing how to best embed telehealth nurses within existing services promotes sustainability and streamlines multidisciplinary care.”

Dr Emma Palmer
Rare diseases often have complex symptoms and support needs, requiring large multidisciplinary care teams of doctors, clinicians, nurses, and allied health professionals.

There are also currently no curative therapies for many of these conditions, and they can become progressive over a lifetime. Equitable access to treatment and specialised care is vital to improve families’ quality of life.

The trial service will be staffed by clinicians with specialist expertise and experience in rare diseases, particularly those who are skilled in working with patients from priority populations. These populations include people with undiagnosed rare conditions, those who live in regional, rural and remotes areas, Aboriginal and Torres Strait Islander people, and those with disabilities, including intellectual disabilities.

Adj Associate Professor Paula Bray, Director of Kids Research, said receiving the competitive grant was a testament to the innovative work being done at SCHN to unlock answers for children living with rare conditions.

Our Network cares for hundreds of children living with rare conditions each year. By being one of the trial sites for The Navigator Project, we can provide our expertise and help empower telehealth nurses to provide higher quality of care for people living with complex conditions and from priority populations,” Adj Ass/Prof Bray said.

“Service navigation is important and needed across Australia, from paediatric to adult hospitals. Research, such as The Navigator Project, will help us understand what is needed and how these services can be provided to reduce health inequities and strengthen outcomes for people living with a rare disease.”

Learn more about The Navigator Project through the Rare Voices Australia website.