BackgroundFamilies of children living with a rare disease report significant health and social burden, however, few studies have systematically examined family needs by using validated tools to assess the scope and extent of this burden. Our aim was to develop a comprehensive survey to assess health, psychosocial and financial impacts on Australian families caring for a child with a rare disease.MethodsWe developed a self-administered survey for parents/carers incorporating pre-validated tools. The survey included questions about experiences of diagnosis, health services use and needs, needs for peer and financial supports. Forty-seven families attending the state-wide Genetic Metabolic Disorders Service at the Children’s Hospital at Westmead, Sydney were invited to participate.ResultsOf 46 families who received the survey, 30 (65%) completed it. Most (93%) found the survey acceptable and relevant (91%). Patients were 1–17 years old, 14 (47%) male, and 12 (40%) non-Caucasian. Eighteen (60%) had a lysosomal storage disease and 12(40%) had a mitochondrial disorder. Eleven (38%) saw 3–5 doctors and four (14%) saw 6–10 doctors before receiving the correct diagnosis; 43% felt diagnosis was delayed. Four (13%) were dissatisfied with the way diagnosis was given, due to insensitive style of communication, inadequate information and psychological support. Psychosocial impact was moderate to high for 90% of families and the level of impact was not dependent on the level of health functioning of the child. Twenty-six (87%) wanted, but only 13(43%) received, information about peer-support groups. The 30 children accounted for 168 visits to general practitioners and 260 visits to specialist doctors; 21 (70%) children had at least one admission to hospital, including one who had 16 admissions in the previous 12 months. Most families (77%) received financial assistance but 52% believed this was insufficient. Families benefited from a specialised multi-disciplinary clinic but called for patient-held electronic medical records.ConclusionsAustralian families caring for children with genetic metabolic disorders are adversely impacted by delays in diagnosis, lack of easy access to peer support groups and lack of psychological support. Further research is needed to estimate economic impact and to analyse health service delivery models for children with rare diseases in Australia.

Objective: To collect nationally representative epidemiological data on early‐onset eating disorders (EOEDs) in children. Design: Prospective, active surveillance using the Australian Paediatric Surveillance Unit with key informant design. Setting: Child health specialists in Australia (July 2002 to June 2005). Patients: Incident cases of EOEDs in children aged 5–13 years. Main outcome measures: Disease rates, demographic characteristics, clinical features and complications, hospitalisation, psychological comorbidity, and concordance of clinical features with Diagnostic and statistical manual of mental disorders, fourth edition (DSM‐IV) criteria. Results: We identified 101 children aged 5–13 years with EOEDs (median age, 12.2 years; range, 5.5–13.9 years), of whom one in four were boys. Most were hospitalised (78%), and the mean duration of hospitalisation was 24.7 days (range, 1–75 days). More than 70% of inpatients were admitted to specialised eating disorder units in paediatric teaching hospitals. Among inpatients, 37% met DSM‐IV diagnostic criteria for anorexia nervosa; although 61% had life‐threatening complications of malnutrition, only 51% met weight criteria. Psychological symptoms were similar to those in adults with anorexia nervosa: 67% of inpatients met both psychological diagnostic criteria for anorexia nervosa (fear of weight gain/fatness and misperception of body shape). Of 19 postmenarchal girls, 18 had secondary amenorrhoea. Nasogastric feeding was used in 58% of inpatients, and 34% received psychotropic medications. Conclusions: This is the first prospective national study of EOEDs. It demonstrates the limitations of applying DSM‐IV diagnostic criteria for anorexia nervosa to young children; the high proportion of boys affected by EOEDs; and the significant psychological comorbidity and high frequency of hospitalisation associated with EOEDs. Potentially life‐threatening medical complications are common at presentation, suggesting possible missed diagnoses and a need for education of health professionals. The study underlines the severity of EOEDs and the need for joint medical and psychiatric specialist management.

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.