Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support

Abstract

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.

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents

“…Accordingly, the majority of participants in this study greatly appreciated the exchange with others in the context of the interviews and expressed their wish to have this opportunity more frequently. Unfortunately, research shows that few families with children with rare diseases receive psychosocial support at the time of diagnosis (Anderson et al 2013).…”

Policy recommendations for rare disease centres of expertise

“…This is likely the case also with other specialist doctors and HCPs. Findings of an Australian study showed that families caring for children with genetic metabolic disorders were adversely impacted by delays in diagnosis (Anderson, Elliott, & Zurynski, 2013). A solution to tackle these issues would be to set up systems of knowledge transfer from RD CoEs into the broader outpatient sector by collaborating with regional health care networks and generate knowledge for the RD CoEs as recommended by Schultz et al (2012).…”

Caracterización de los conocimientos de las madres sobre la discapacidad de sus hijos y su vínculo con la dinámica familiar.

“…Coincidiendo con el estudio realizado por Anderson, Elliott & Zurynski (2013), la literatura señala que si se les informa a los padres acerca de la discapacidad con métodos más apropiados, éstos podrían disminuir la sensación de impotencia que experimentan frente al diagnóstico (Marcheti, Noda & Ferreira, 2008). Las respuestas de las madres sobre cuál es la forma en que les informan el diagnóstico de discapacidad se presentan a continuación: "Me dicen en un centro de especialistas de la columna, que su cerebro ya no se puede desarrollar y que necesitaba mucha terapia.…”