An Article on Rare Diseases – by Associate Professor Carol Wicking

Associate Professor Carol Wicking is a biomedical researcher at The University of Queensland’s Institute for Molecular Bioscience (IMB), Director of the IMB Centre for Rare Disease Research and a member of the Scientific and Medical Advisory Committee of Rare Voices Australia.

“Change is in the air for rare diseases;  change that is driven by technological advances that allow scientists to sequence every gene or in some cases every one of the 3 billion base pairs that make up our DNA.”

Associate Professor Carol Wicking highlights the importance of genetic diagnosis and how it can provide hope in moving toward improved treatment and tailored disease management, as well as provide researchers with the clue they need to move towards new therapies.

Click here to read the full article.

Rare Disease Articles – Australian Family Physician

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.

A Powerful Team: The Family Physician Advocating for Patients with a Rare Disease

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.

Source Kids Magazine launches its First Edition

Have you heard?

Source Kids has just launched their First Edition of their glossy magazine – in both hardcover and online. It’s a wonderful resource that provides positive outcomes for those with special needs.

Emma Price, Publisher of Source Kids magazine says: “The goal of Source Kids is to deliver reliable, relevant and up-to-date information in a vibrant and positive way.” Source Kids is filled with personal stories, helpful support information, a national calendar of events and a directory of support organisations.

You can also read about Rare Voices Australia on pages 38/41 and our visit to Parliament House to celebrate Rare Diseases Day and advocate in support of all who live with a rare disease.”When you are the only one in the country, perhaps the world, suffering a rare disease variety, it is comforting to know that someone, somewhere, is on your side.”