Call for a national plan for rare diseases

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BackgroundChildhood interstitial lung disease (chILD) represents a rare heterogeneous group of respiratory disorders. In the absence of randomized controlled clinical trials, global collaborations have utilized case series with an aim to standardising approaches to diagnosis and management. Australasian data are lacking. The aim of this study was to calculate prevalence and report the experience of chILD in Australasia over a decade.MethodsPaediatric pulmonologists in Australia and New Zealand involved in the care of patients aged 0–18 years with chILD completed a questionnaire on demographics, clinical features and outcomes, over a 10 year period. These data, together with data from the 2 reference genetics laboratories, were used to calculate prevalence.ResultsOne hundred fifteen cases were identified equating to a period prevalence (range) of 1.5 (0.8–2.1) cases/million for children aged 0–18years. Clinical data were provided on 106 patients: the <2 year group comprised 66 children, median age (range) 0.50 years (0.01–1.92); the ≥2 year group comprised 40 children, median age 8.2 years (2.0–18.0). Management approach was heterogeneous. Overall, 79% of patients had a good clinical outcome. Mortality rate was 7% in the study population.ConclusionchILD is rare in Australasia. This study demonstrates variation in the investigations and management of chILD cases across Australasia, however the general outcome is favorable. Further international collaboration will help finesse the understanding of these disorders.

Section: Discussionmentioning

confidence: 88%

Section: Introductionmentioning

confidence: 99%

Childhood interstitial lung diseases in immunocompetent children in Australia and New Zealand: a decade’s experience

Saddi

Beggs

Bennetts

et al. 2017

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“…EURORDIS Care 3 survey ( N = 5995, response rate 30%; population 742 million) [5] and the surveys conducted by Rare Diseases UK ( N = 570 in 2010; N = 1203 in 2016; no response fraction calculated; population 64 million) [17, 23]. The large variety (over 200), rare diseases represented among our cohort is a strength because our results are likely to be generalizable to children living with other rare diseases and the issues faced by families are similar regardless of the specific diagnosis [2–4, 24–26]. The greatest strength of our research was the direct involvement of peer support organisations.…”

Section: Discussionmentioning

confidence: 99%

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

Zurynski

Deverell

Dalkeith

et al. 2017

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154

179

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.

“…[11] Recognition of the need for an Australian national plan for rare diseases has gained momentum in recent years. The first published Australian call for better co-ordination in rare diseases came from the general practice sector [11] followed more recently by the Australian Paediatric Surveillance Unit (APSU http://www.apsu.org.au) [10], a research organisation that facilitates the study of rare childhood diseases. In 2009 APSU, with a small grant from the Australia Research Alliance for Children and Youth (ARACY), established a working group of 24 members to draft an outline for a national plan [17].…”

Section: Introductionmentioning

confidence: 99%

Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases

Molster¹,

Youngs²,

Hammond³

et al. 2012

BackgroundCalls have been made for governments to adopt a cohesive approach to rare diseases through the development of national plans. At present, Australia does not have a national plan for rare diseases. To progress such a plan an inaugural Australian Rare Diseases Symposium was held in Western Australia in April 2011. This paper describes the key issues identified by symposium attendees for the development of a national plan, compares these to the content of EUROPLAN and national plans elsewhere and discusses how the outcomes might be integrated for national planning.MethodsThe symposium was comprised of a series of plenary sessions followed by workshops. The topics covered were; 1) Development of national plans for rare diseases; 2) Patient empowerment; 3) Patient care, support and management; 4) Research and translation; 5) Networks, partnerships and collaboration. All stakeholders within the rare diseases community were invited to participate, including: people affected by rare diseases such as patients, carers, and families; clinicians and allied health practitioners; social and disability services; researchers; patient support groups; industry (e.g. pharmaceutical, biotechnology and medical device companies); regulators and policy-makers.ResultsAll of these stakeholder groups were represented at the symposium. Workshop participants indicated the need for a national plan, a national peak body, a standard definition of ‘rare diseases’, education campaigns, lobbying of government, research infrastructure, streamlined whole-of-lifetime service provision, case co-ordination, early diagnosis, support for health professionals and dedicated funding.ConclusionsThese findings are consistent with frameworks and initiatives being undertaken internationally (such as EUROPLAN), and with national plans in other countries. This implies that the development of an Australian national plan could plausibly draw on frameworks for plan development that have been proposed for use in other jurisdictions. The translation of the symposium outcomes to government policy (i.e. a national plan) requires the consideration of several factors such as the under-representation of some stakeholder groups (e.g. clinicians) and the current lack of evidence required to translate some of the symposium outcomes to policy options. The acquisition of evidence provides a necessary first step in a comprehensive planning approach.