Often occurring in childhood, rare diseases tend to involve substantial disability, compromised quality of life and premature loss of life. Furthermore, rare diseases can weigh heavily on families, health services and the community at large.
Yet many health providers, policy makers and research funders appear to lack access to information and education, or choose to neglect rare diseases. This is a critical gap that must be urgently addressed.
With a population prevalence of less than 1-in-2,000, and an estimated 8 per cent of the population either born with, or set to develop a rare disease during their lifetime, scant medical registries in Australia monitor those living with rare diseases.
Australia’s recognition of rare diseases is at best, fragmented, despite many calls for the implementation of a national plan. Notably, the West Australian government has called for an undiagnosed disease program with a rare disease framework.
Medications for rare diseases, if available, are overwhelmingly cost-prohibitive and therefore, unaccessible. To further compound the problem, the pharma industry tends to generally shy away from investing in research and development of treatments for rare diseases, given their limited use based on market size. Furthermore, despite our nation’s orphan drug program designed to incentivise pharma companies to commercialise treatments for rare diseases, few treatments have been registered or government-subsidised in Australia.
According to the Australian Paediatric Surveillance Unit, Australian families cite substantial stress due to delays in diagnosis, misdiagnoses, poor services and treatment options for rare diseases, frequency of medical care required, feelings of isolation, and the financial drain associated with caring for a family member living with a rare disease. The manner in which a rare disease diagnosis is delivered can further exacerbate the stress placed on families.
Families of those living with rare diseases have been referred to as “medically disenfranchised” for their tendency to fall through the cracks of healthcare systems. The complexity associated with rare diseases and multidisciplinary care required substantially impacts on health providers and health budgets.
The GP plays a pivotal role in caring for patients living with rare diseases, and their families, from a coordination of care, preventive care and improving quality of life perspective. Notably, 80 per cent of children living with a rare disease visited their GP on at least one occasion in the previous year, averaging eight visits, with a range of 1 – 240 visits per patient.
By obtaining a detailed family history, documenting signs and symptoms of disease, and initiating early referrals to specialist services, GPs can effectively minimise delays in the diagnosis and treatment of rare diseases. Offering GPs access to reliable and locally relevant information will lead to earlier diagnoses, improved management and support and stronger advocacy for those living with rare diseases.
The GP should therefore, prove instrumental to future initiatives designed to improve the diagnosis and management of rare diseases in Australia.