Rare Care Centre

The CAHS Clinical Centre of Expertise for Rare and Undiagnosed Diseases (Rare Care Centre) was launched in 2022 to address the challenges faced by children and families living with Rare and Undiagnosed Diseases.

The Centre provides two streams of clinical service, an innovative statewide cross-sector care coordination service and the Nurse Navigator program, with supporting work streams including education and workforce capacity, digital data and device, global partnerships, evaluation and research, peer support programs, and awareness and systems advocacy.

What are Rare Diseases?

A Rare Disease is defined as affecting less than 1 in 2000 people. An Undiagnosed Disease patient clinically presents with rare disease symptoms but is yet to be diagnosed with or does not have a diagnostic test available for their condition.

Rare and Undiagnosed Diseases (RUD) are individually rare but collectively common, affecting 1 in 12 people in Australia, and approximately 63 000 children in Western Australia (WA) alone, indicating a significant health and social impact.

People living with rare or undiagnosed diseases face additional challenges compared to other medically complex conditions. The journey to rare disease diagnosis is often long, involves many specialists and can include multiple incorrect diagnoses before the correct rare disease is identified.

These conditions are severe, chronic, often disabling and life limiting, and affect all aspects of life. Only 5% of rare diseases have a treatment option. Patients must navigate multiple complex sectors (health, education, disability etc) while often experiencing isolation, stigma, and discrimination.

Impact reports

The Rare Care Centre has recently released its 2023-24 Impact Report.

This report showcases the achievements of the Centre’s second year, including evaluation data for the Centre’s model of care and the Centre’s expanding network of partnerships and collaborations. This work demonstrates the unwavering commitment to transforming the lives of children and their families living with rare and undiagnosed diseases.

Access all our Impact Reports:

Funder acknowledgement

The Rare Care Centre is a unique alliance between Child and Adolescent Health Service (CAHS) and the following philanthropic foundations:

Angela Wright Bennett Foundation
McCusker Charitable Foundation (via Telethon Channel 7 Trust)
Stan Perron Charitable Foundation
Perth Children’s Hospital Foundation

Referrals

The Rare Care offers two referral pathways for both our clinical services:

Internal Referrals: PCH Clinicians

a. Submit via the PCH e-referral system. Filter Paediatric Medicine to Rare Care

External Referrals: Child Development Service Paediatricians and Private Paediatricians

a. Submit via the Central Referral Service WA

Please note that each referral will be assessed by the Rare Care Intake Team, who will determine which service (Cross-Sector Service or the Nurse Navigator) is appropriate, and the referring professional will be advised of the outcome.

Eligibility criteria

Has a RUD (including undiagnosed patients with high probability of RD), AND
Has an identified current gap in service needs (clinical and/or cross-sector) according to Rare Care Interventions, AND
Is receiving ongoing paediatric care from either a PCH Team, a Paediatrician at CDS or a private paediatrician.

Important note: Currently, the Rare Care Centre is not accepting referrals directly from General Practitioners (GPs).

This is an outpatient time-limited service, and as such, the Rare Care Centre is unable to admit patients. We work with existing medical teams to provide improved outcomes.

If you have any questions or would like to discuss a referral, please contact the Rare Care Team.