BackgroundFew studies have examined whether the healthcare needs of people living with rare diseases are being met. This study explores the experiences of Australian adults living with rare diseases in relation to diagnosis, information provision at the time of diagnosis, use of health and support services and involvement in research on their condition.MethodsThe survey respondents are self-selected from the population of Australian residents aged 18 years and over who are living with a rare disease. An online survey was implemented between July-August 2014. Purposive snowballing sampling was used. The results are reported as percentages with significant differences between sub-groups assessed using chi-squared analyses.ResultsEight hundred ten responses were obtained from adults living with a rare disease. 92.1 % had a confirmed diagnosis, of which 30.0 % waited five or more years for a diagnosis, 66.2 % had seen three or more doctors to get a diagnosis and 45.9 % had received at least one incorrect diagnosis. Almost three quarters (72.1 %) received no or not enough information at the time of diagnosis. In the 12 months prior to the survey, over 80 % of respondents had used the services of a general practitioner and a medical specialist while around a third had been inpatients at a hospital or had visited an emergency department. Only 15.4 % of respondents had ever used paediatric services, 52.8 % of these had experienced problems in the transition from paediatric to adult services. Only 20.3 % knew of a patient registry for their condition and 24.8 % were informed of clinical trials.ConclusionsThese findings suggest that not all healthcare needs of people living with rare diseases are being met. Structural changes to Australian healthcare systems may be required to improve the integration and coordination of diagnosis and care. Health professionals may need greater awareness of rare diseases to improve the diagnostic process and support to meet the information requirements of people newly diagnosed with rare diseases. Health service use is likely higher than for the general population and further epidemiological studies are needed on the impact of rare diseases on the healthcare system.

When registries collect accurate clinical data over time, they can act as fundamental support structures for patients and their families and powerful cost-effective instruments to support clinical trials and translational research to improve quality of care, quality of life and survival. Registries are critical for rare diseases (RD) with low prevalence and propensity for variation in treatment and outcomes. Rare Voices Australia is leading a call for action to the research and clinical community to prioritise RD data collection and develop an integrated RD Registry strategy for Australia. Financial, operational and governance challenges exist for establishing and maintaining RD registries. As a multidisciplinary team whose interests converge on RD, we highlight the need for the establishment of an Australian RD Registry Alliance. This 'umbrella' organisation will: (i) bring together existing RD registries across Australia; (ii) establish National RD Registry Standards to support interoperability and cohesion across registries; (iii) develop strategies to attract sustainable funding from government and other sources to maximise the utility of existing RD registries and support the development of new RD registries. The most important role for the Alliance would be to use the RD registries for translational research to address current knowledge gaps about RD and to improve the care for the over 1.4 million Australians estimated to live with RD.

No abstract

Background: Fabry disease is a rare, progressive, X-linked, lysosomal storage disorder characterized by a wide spectrum of heterogeneously progressive clinical phenotypes. In the absence of a cure, disease-specific therapy aims to improve symptoms, stabilize current disease and delay progression. In Australia access to available treatments requires patients to meet pre-specified criteria, which were established more than 15 years ago. To address this, a panel comprising two members of the patient association Fabry Australia and its Medical Advisory Committee conducted a review of the literature to help inform contemporary disease-specific treatment access for patients with Fabry disease in Australia. The findings from the literature were applied to develop consideration statements and recommendations for revised classification and treatment initiation criteria.Results: Access criteria for Fabry-specific treatment in Australia are not aligned with current clinical evidence. The current treatment access paradigm in Australia imposes disease-severity related restrictions on all patients. This prevents timely treatment initiation and compromises clinical outcomes. Recommendations include the definition of patient classification groups to accommodate classical and non-classical disease and a revised decision framework to establish treatment initiation criteria with more sensitivity to the different disease trajectories within these patient groups. Conclusions: It is hoped that the proposed consideration statements and recommendations will raise awareness of a wider range of clinical scenarios that could be considered to prompt the initiation of Fabry-specific disease therapy in Australia. Adoption of these recommendations could support more equitable and timely access to treatment and better align Australian practice with contemporary evidence and international guidelines.