Category: In The Media

Click here to read media generated following the research of the Disability & Rare Disease: Towards Person Centred Care for Australians with Rare Diseases report.

Rare Voices Australia’s (RVA) CEO, Nicole Millis, was interviewed by Claire Lindsay on ABC’s AM radio show. Click here to listen to the interview.

The burden of rare disease remains unacceptably high according to one national organisation fighting for the rights of nearly 2 million Australians in this category. 

Rare Voices Australia CEO Nicole Millis explains the progress being made towards addressing the inequality in the health system – effectively making it ‘Fair for Rare’.

Click here to read the full article.

The federal government will establish Australia’s first National Rare Diseases Framework and Action Plan to support people with rare conditions such as Batten disease, muscular dystrophy and mitochondrial disease.

Advocacy group Rare Voices Australia (RVA) will receive $170,000 to develop the action plan, Health Minister Greg Hunt will announce at the 2018 Rare Diseases Summit in Melbourne on Friday.

Click here to read the full article.

Little Beau Cosgrove was born with the Morquio A illness which affects every part of his body except his brain. There are only 21 known cases of the condition in Australia.

Read the full article, written by Libby-Jane Charleston via The Huffington Post Australia.

A new gene behind a rare form of inherited childhood kidney disease has been identified by a global research team.

Read the full article via UQ News.

Brave little Beau Cosgrove’s face lights up when he reaches for his beloved cowboy hat.

Read the full article, written by Clare Sibthorpe via The Canberra Times.

Sofia Belmonte was just eight years old when she had a stroke in 1978.

Read the full article, written by Alison Branley via ABC Online.

Rare Voices Australia is thrilled to see the Australian Family Physician (published by The Royal Australian College of General Practitioners) focus on Rare Diseases, unexplained illness, cancer of unknown primary and advocating for patients. Falling through the cracks September 2015 Vol 44 (9) 609-688 – RVA will highlight a few here but encourage you to take time to read the full edition of the September issue of  Australian Family Physician, 2015 Vol 44 (9), pages 609-688, which focuses on Rare Diseases.

Falling Through the Cracks – Rare Diseases are a ‘common’ problem for clinicians (Volume 44, No.9, September 2015) written by Elizabeth Elliott and Yvonne Zurynski of the Australian Paediatric Surveillance Unit and Yvonne is a member of RVA’s Scientific Medical Advisory Committee (SMAC). The publication talks to the important role GPs play in healthcare delivery for people living with a rare disease and their families, especially in care coordination, preventive care and enhancing quality of life. GPs should be an integral part of any initiatives undertaken nationally to improve the diagnosis and management of rare diseases. To read the full article, click here.

‘A Powerful Team:  The Family Physician Advocating for Patients with a Rare Disease’ (Volume 44, No. 9, September 2015) written by Tracy Dudding (Consultant Clinical Geneticist, Hunter Genetics & NSW Genetics of Learning Disability (GoLD). This article outlines the challenges faced by the rare disease community, and the role of the primary care physician to advocate for answers as their patients transition through the healthcare system. To read the full article, click here.

‘Supporting Patients with a rare disease’ (Volume 44, No.9, September 2015) written by Valmae Ypinazar Dip Teach, BEd (Hons), PhD,Senior Research Fellow, School of Medicine, Griffith University, QLD Valmae has both a personal and professional connection with rare disease. Her article shares a personal perspective, caring for her son diagnosed with a rare disease; primary sclerosing cholangitis (PSC). It outlines the challenges patients (and caregivers) often face following diagnosis including lack of information and how parents / patients are forced into a role of becoming ‘expert’ in their disease and the importance of nurturing their relationship with their GP.  To read the full article, click here.

Background
Rare diseases are characteristically difficult to diagnose and for the majority, there are no effective treatments or evidence-based management guidelines. Although it is unrealistic to expect family physicians to recognise the wide clinical spectrum of rare diseases, their longitudinal and holistic approach to medicine place them in a unique position to consider the possibility of a rare disease.

Objective
This article outlines the challenges faced by the rare disease community, and the role of the primary care physician to advocate for answers as their patients transition through the healthcare system.

Discussion
The road to the diagnosis of a rare disease can test the doctor–patient relationship. Patients often struggle for answers and family physicians are stymied by a lack of information. At the same time, the availability of cyber-based health information and online rare-disease patient groups has led to the emergence of the ‘expert’ patient, who seeks a collaborative and empowering relationship with their physician. Following diagnosis, the family physician plays a crucial part in providing continuity of care, advocating access to expert healthcare, coordinating complex management and becoming a source of psychological support.

Click here to read the full article.

For additional articles on Rare Diseases in the Australian Family Physician, September 2015 Vol 44 (9), pages 609-688, click here.