Australian Family Physician focus on rare diseases

 
The Australian Family Physician has published an issue with a focus on rare diseases. Here they have published several reports on the existing relationship between the physician and the rare disease patient and family as well as the challenges they face. The reports also provide several avenues that are meant to aid the patient and the physician in an extremly difficult journey from diagnosis to treatment as well as social assistance. Selected articles in this issue are described below.

Managing medically unexplained illness in general practice This article describes the conundrum that a lack of diagnosis can create for both the patient and the physician. According to the authors diagnosis is not just a tool to guide management but an expected part of a medical interaction wherein a lack of diagnosis means a lack of guidelines and evidence-based treatments. The authors describes medically unexplained symptoms as falling into three different categories, which sometimes overlap, and the requirement of different management approaches to tackle these symptoms. These categories include Elusive illness: Where a significant biomedical diagnosis seems to be ‘just around the corner’, Contested illnesses: When every consultation becomes a battleground. Chaotic illnesses: Where problems ‘go way down to the bottomless depths’ and strategies to overcome this.

A powerful team: the family physician advocating for patients with a rare disease
Another article focusses on “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.” This is an informative article on the various resources that is currently available for rare diseases.

The authors provides information on the various resources for physicians as well as patients on individuals who remain undiagnosed. The authors note the rapid advances that are being made in the field of clinical genetics especially whole genome and exome sequencing. They also provide information on several web based and community resources for family physicians’ care of patients with rare diseases. The authors also point out the importance of National advocacy in Australia and Rare Voices Australia provides a strong, united voice advocating on a state and federal level for a National Rare Disease Strategy.

Rare diseases are a common problem for clinicians
This article notes that approximately 8% of the Australian population live with any one of about 10,000 known rare diseases. It reviews the impact of rare diseases on families and health services, and the role of the general practitioner (GP) and policy response in Australia. GPs are in a unique position they are usually the first point of contact for rare disease patients in search of diagnosis and treatment. Taking from the research conducted by the Australian Paediatric Surveillance Unit, the authors emphasise the significant challenges, including diagnostic delays, lack of available treatment and difficulty in finding the right health service faced by rare disease patients and families, who also feel “isolated, under-supported, and often face economic hardship.” The authors underscore the importance of providing GPs with adequate assistance and be an integral part of initiatives undertaken nationally for rare disease patients, especially to improve diagnosis and management.