Rare Disease Project ECHO®

Two series of this clinical Community of Learning Practice were held in 2022 and 2023. Please register below to be kept up to date with news on future series or relevant resources/events.

Register to keep up to date on Rare Disease Project ECHO®.

The Rare Disease Awareness, Education, Support and Training (RArEST) Project team facilitated 14 continuing professional development interactive webinars for health professionals across two series over 2022 and 2023.

The sessions followed the Project ECHO® model. Project ECHO® is a free, innovative video conferencing model that connected providers to the multidisciplinary RArEST team. Workshop sessions were designed to equip health professionals with the right knowledge at the right place and the right time.

The benefits of joining the sessions included:

  • Supporting health professionals with the diagnosis and management of rare diseases
  • Introducing health professionals to resources available to them and their patients
  • Connecting health professionals with a multidisciplinary network of like-minded health professionals
  • Establishing referral pathways across Australia to reach subject matter experts for rare disease

The sessions were held online via Zoom. An expert presenter introduced a key topic, then explored it through a clinical case study. This was followed by reflective discussion that all participants were encouraged to join. To protect the privacy of patients featured in case studies, these parts of the sessions were not recorded. Joining live maximised the opportunity of participants to build relationships with other health professionals across Australia.

Image reads RACGP CPD Approved Activity. 5 hours reviewing performance.


Many health professionals used these sessions towards self-identified continuing professional development (CPD) requirements. This activity was also approved for RACGP CPD (1 CPD activity hour per session).

 

Although there is no series of the Rare Disease Project ECHO® currently running, health professionals can register below to be kept up to date on future series and/or relevant resources and other events.

Register here to be kept up to date with Rare Disease Project ECHO

The session summaries from both series and recordings of the introductory talks from experts in the first series are available below.

Series 1 (2022-2023)

Session 1: Rare Disease Facts and Figures and the Importance of Lived Experience

Presenter: Nicole Millis, Chief Executive Officer, RVA

Resources: Session Recording | Session Summary (PDF) | Family GENES (PDF)


Session 2: Mental Health and Wellbeing – Unique Needs and Resources Pathways

Presenter: Louise Healy, Education and Advocacy Manager, RVA

Resources: Session Recording | Session Summary (PDF)


Session 3: Communication About Rare Diseases

Presenter: Stephanie Broley, Genetic Counsellor, Rare Care Centre, Perth Children’s Hospital

Resources: Session Recording | Session Summary (PDF)


Session 4: Diagnostic Odyssey – Tools for Diagnosis and Referral Pathways

Presenters: Professor Gareth Baynam, Clinical Geneticist, Rare Care Centre, Perth Children’s Hospital and Dr Emma Palmer, Clinical Geneticist, Sydney Children’s Hospital.

Resources: Session Recording | Session Summary (PDF)


Session 5: Genomics – Carrier Screening, Prenatal Testing, Direct to Consumer Genetic Testing

Presenter: Dr Emma Palmer, Clinical Geneticist, Sydney Children’s Hospitals Network

Resources: Session Recording | Session Summary (PDF)


Session 6: Whole of Life Care

Presenter: Rare Care Centre, Perth Children’s Hospital

Resources: Session Recording | Session Summary (PDF)


Session 7: Partnering with Patient Advocacy Groups

Presenter: Louise Healy, Education and Advocacy Manager, RVA

Resources: Session Recording | Session Summary (PDF)


Session 8: Rare Disease Research

Presenter: Dr Falak Helwani, Research and Evaluation Manager, RVA

Resources: Session Summary (PDF)

Series 2 (2023)

Session 1: Supporting patients before, during, and after a rare disease diagnosis

Presenters: Michele Hemmings, Patient Pathways Telehealth Nurse, and Clare Stuart, Policy and Advocacy Manager, RVA Partner Mito Foundation
Resources: Session Summary (PDF)

Session 2: Rare disease patient communication and empowerment

Presenter: Dr Manjekah Dunn, Junior Doctor, Sydney Children’s Hospitals Network and researcher in the GeneEQUAL team
Resources: Session Summary (PDF)


Session 3: Supporting the whole family of people living with a rare disease

Presenter: Rebecca Saad, nurse consultant at Sydney Children’s Hospitals Network
Resources: Session Summary (PDF)


Session 4: Coordinating and connecting care for people living with a rare disease

Presenters: Christian Meagher, a researcher from the Brain Aid team at the University of New South Wales (UNSW) and Michelle Farrar, Professor of Paediatric Neurology at UNSW Sydney
Resources: Session Summary (PDF)


Session 5: Innovative approaches to rare disease prevention and care

Presenter: Libby Massey, Director, Research, Clinical Services and Education at MJD Foundation
Resources: Session Summary (PDF)

Please email the RArEST Project team with any queries you may have about Rare Disease Project ECHO® or the RArEST Project: [email protected]