BackgroundChildren and families living with rare disease often experience significant health, psychosocial, economic burdens and diagnostic delays. Experiences appear to be constant, regardless of the specific rare disease diagnosis. Systematically collected Australian data to support policy response on rare diseases are scarce. We address this gap by providing survey results about 462 children aged <19 years living with approximately 200 different rare diseases.ResultsOf 462 children, 96% were born in Australia, 55% were male, median age was 8.9 years (0–18.2). Four-hundred-and-twenty-eight (93%) had received a definitive diagnosis but 29 (7%) remained undiagnosed. Before receiving the correct diagnosis 38% consulted ≥ 6 different doctors. Among those with a diagnosis, 37% believed the diagnosis was delayed and 27% initially received a wrong diagnosis. Consequences of delayed diagnosis include anxiety, loss of reproductive confidence because of an ill-defined genetic risk, frustration and stress (54%), disease progression (37%), delays in treatment (25%) and inappropriate treatments (10%). Perceived reasons for diagnostic delays included lack of knowledge about the disease among health professionals (69.2%), lack of symptom awareness by the family (21.2%) and difficulties accessing tests (17.9%). Children with inborn errors of metabolism were less likely to have a delayed diagnosis compared with other disease groups (Chi-Sq = 17.1; P < 0.0001), most likely due to well-established and accessible biochemical screening processes. Diagnosis was given in person in 74% of cases, telephone in 18.5% and via a letter in 3.5%. Some families (16%) were dissatisfied with the way the diagnosis was delivered, citing lack of empathy and lack of information from health professionals. Psychological support at diagnosis was provided to 47.5%, but 86.2% believed that it should always be provided. Although 74.9% of parents believed that the diagnosis could have an impact on future family planning, only 44.8% received genetic counselling.ConclusionParents of children living with rare chronic and complex diseases have called for better education, resourcing of health professionals to prevent avoidable diagnostic delays, and to facilitate access to early interventions and treatments. Access to psychological support and genetic counselling should be available to all parents receiving a life-changing diagnosis for their child.Electronic supplementary materialThe online version of this article (doi:10.1186/s13023-017-0622-4) contains supplementary material, which is available to authorized users.

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IntroductionDevelopment and implementation of appropriate health policy is essential to address the rising global burden of non-communicable diseases (NCDs). The aim of this study was to evaluate existing health policies for integrated prevention/management of NCDs among Member States of the Organisation for Economic Co-operation and Development (OECD). We sought to describe policies’ aims and strategies to achieve those aims, and evaluate extent of integration of musculoskeletal conditions as a leading cause of global morbidity.MethodsPolicies submitted by OECD Member States in response to a World Health Organization (WHO) NCD Capacity Survey were extracted from the WHO document clearing-house and analysed following a standard protocol. Policies were eligible for inclusion when they described an integrated approach to prevention/management of NCDs. Internal validity was evaluated using a standard instrument (sum score: 0–14; higher scores indicate better quality). Quantitative data were expressed as frequencies, while text data were content-analysed and meta-synthesised using standardised methods.ResultsAfter removal of duplicates and screening, 44 policies from 30 OECD Member States were included. Three key themes emerged to describe the general aims of included policies: system strengthening approaches; improved service delivery; and better population health. Whereas the policies of most countries covered cancer (83.3%), cardiovascular disease (76.6%), diabetes/endocrine disorders (76.6%), respiratory conditions (63.3%) and mental health conditions (63.3%), only half the countries included musculoskeletal health and pain (50.0%) as explicit foci. General strategies were outlined in 42 (95.5%) policies—all were relevant to musculoskeletal health in 12 policies, some relevant in 27 policies and none relevant in three policies. Three key themes described the strategies: general principles for people-centred NCD prevention/management; enhanced service delivery; and system strengthening approaches. Internal validity sum scores ranged from 0 to 13; mean: 7.6 (95% CI 6.5 to 8.7).ConclusionRelative to other NCDs, musculoskeletal health did not feature as prominently, although many general prevention/management strategies were relevant to musculoskeletal health improvement.