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Aim: We aimed to describe health‐related out‐of‐pocket (OOP) expenses incurred by Australian families living with children with chronic and complex diseases. Methods: A prospective pilot study of OOP expenses in families with children with tuberous sclerosis (TS) or mitochondrial disorders (MD) in 2016–2017. An initial survey assessed the family's financial situation, child's health functioning and estimated previous 6 months' and lifetime OOP expenses. Thereafter, families completed a survey each month for 6 months, prospectively tracking OOP expenses. Results: Initial surveys were completed by 13 families with 15 children; median age 7 years (range: 1–12); 5 with MD, 10 with TS. All families reported OOP expenses: 38% paid $2000 per annum, more than double the annual per‐capita OOP costs reported for Australia by the Organisation for Economic Co‐operation and Development. Eight families estimated $5000–$25 000 in OOP expenses over their child's lifetime and 62% of mothers reduced or stopped work due to caring responsibilities. Eleven families paid annual private health insurance premiums of $2000–$5122, but 72% said this was poor value‐for‐money. Prospective tracking by eight families (9 children) identified the median OOP expenditure was $863 (range $55–$1398) per family for 6 months. OOP spending was associated with visits to allied health professionals, non‐prescription medicines, special foods, supplements and disposable items. Eight families paid for 91 prescription medications over 6 months. Conclusion: All families caring for children with TS or MD reported OOP expenses. A larger study is needed to explore the affordability of health care for children living with a broader range of chronic diseases. [ABSTRACT FROM AUTHOR]

Background: Children 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.Results: Of 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.Conclusion: Parents 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. [ABSTRACT FROM AUTHOR]