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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.

The spectroscopic properties of 18 strongly hydrogen-bonded pyridine-benzoic acid adducts have been correlated with the value of the complex. As the critical for proton transfer is approached from either side of the critical region, increased broadening of the y-NH or y-OH and y-C=0 bands is observed. Also, strong background absorption below 1200 cm.-1 occurs.At the critical value, discontinuous changes take place in the y-C=0 and y-C-0 regions of the spectrum, indicating that the adducts are either predominantly ionized or are predominantly un-ionized. In all of the complexes, either no band above 1700 cm.-1 could be ascribed to y-OH or y-NH, or two bands near 1900-2000 and 2500-2600 cm.-1 could be attributed to these modes. These two situations have been interpreted as corresponding to single-minimumor near single-minimum-type and double-minimum-type hydrogen bonds, respectively. The single-minimum-type, hydrogen-bonded complex occurs only when its is close to the critical for proton transfer as determined from the y-C-O and y-C=0 bands.

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