Curtin University Homepage
  • Library
  • Help
    • Admin

    espace - Curtin’s institutional repository

    JavaScript is disabled for your browser. Some features of this site may not work without it.
    View Item 
    • espace Home
    • espace
    • Curtin Research Publications
    • View Item
    • espace Home
    • espace
    • Curtin Research Publications
    • View Item

    Survey of healthcare experiences of Australian adults living with rare diseases.

    Access Status
    Open access via publisher
    Authors
    Molster, C.
    Urwin, D.
    Di Pietro, L.
    Fookes, M.
    Petrie, D.
    van der Laan, S.
    Dawkins, Hugh
    Date
    2016
    Type
    Journal Article
    
    Metadata
    Show full item record
    Citation
    Molster, C. and Urwin, D. and Di Pietro, L. and Fookes, M. and Petrie, D. and van der Laan, S. and Dawkins, H. 2016. Survey of healthcare experiences of Australian adults living with rare diseases. Orphanet Journal of Rare Diseases. 11 (1): pp. 30-30.
    Source Title
    Orphanet Journal of Rare Diseases
    DOI
    10.1186/s13023-016-0409-z
    School
    Centre for Population Health Research
    URI
    http://hdl.handle.net/20.500.11937/24992
    Collection
    • Curtin Research Publications
    Abstract

    Background: Few studies have examined whether the healthcare needs of people living with rare diseases are being met. This study explores the experiences of Australian adults living with rare diseases in relation to diagnosis, information provision at the time of diagnosis, use of health and support services and involvement in research on their condition. Methods: The survey respondents are self-selected from the population of Australian residents aged 18 years and over who are living with a rare disease. An online survey was implemented between July-August 2014. Purposive snowballing sampling was used. The results are reported as percentages with significant differences between sub-groups assessed using chi-squared analyses. Results: Eight hundred ten responses were obtained from adults living with a rare disease. 92.1 % had a confirmed diagnosis, of which 30.0 % waited five or more years for a diagnosis, 66.2 % had seen three or more doctors to get a diagnosis and 45.9 % had received at least one incorrect diagnosis. Almost three quarters (72.1 %) received no or not enough information at the time of diagnosis. In the 12 months prior to the survey, over 80 % of respondents had used the services of a general practitioner and a medical specialist while around a third had been inpatients at a hospital or had visited an emergency department. Only 15.4 % of respondents had ever used paediatric services, 52.8 % of these had experienced problems in the transition from paediatric to adult services. Only 20.3 % knew of a patient registry for their condition and 24.8 % were informed of clinical trials.Conclusions: These findings suggest that not all healthcare needs of people living with rare diseases are being met. Structural changes to Australian healthcare systems may be required to improve the integration and coordination of diagnosis and care. Health professionals may need greater awareness of rare diseases to improve the diagnostic process and support to meet the information requirements of people newly diagnosed with rare diseases. Health service use is likely higher than for the general population and further epidemiological studies are needed on the impact of rare diseases on the healthcare system.

    Related items

    Showing items related by title, author, creator and subject.

    • Burden of disease and benefits of exercise in fixed airway obstruction asthma
      Turner, Sian Elizabeth (2009)
      Background and research questions. The characterization of chronic persistent asthma in an older adult population is not well defined. This is due to the difficulties in separating the diagnosis of asthma from that of ...
    • Improved diagnosis and care for rare diseases through implementation of precision public health framework
      Baynam, Gareth; Bowman, F.; Lister, K.; Walker, C.; Pachter, N.; Goldblatt, J.; Boycott, K.; Gahl, W.; Kosaki, K.; Adachi, T.; Ishii, K.; Mahede, T.; McKenzie, Fiona; Townshend, S.; Slee, J.; Kiraly-Borri, C.; Vasudevan, A.; Hawkins, A.; Broley, S.; Schofield, L.; Verhoef, H.; Groza, T.; Zankl, A.; Robinson, P.; Haendel, M.; Brudno, M.; Mattick, J.; Dinger, M.; Roscioli, T.; Cowley, M.; Olry, A.; Hanauer, M.; Alkuraya, F.; Taruscio, D.; Posada De La Paz, M.; Lochmüller, H.; Bushby, K.; Thompson, R.; Hedley, V.; Lasko, P.; Mina, K.; Beilby, J.; Tifft, C.; Davis, M.; Laing, N.; Julkowska, D.; Le Cam, Y.; Terry, S.; Kaufmann, P.; Eerola, I.; Norstedt, I.; Rath, A.; Suematsu, M.; Groft, S.; Austin, C.; Draghia-Akli, R.; Weeramanthri, Tarun; Molster, C.; Dawkins, Hugh (2017)
      © Springer International Publishing AG 2017. Public health relies on technologies to produce and analyse data, as well as effectively develop and implement policies and practices. An example is the public health practice ...
    • Risk behaviors for STIs and HIV in the Commonwealth of the Northern Mariana Islands
      DeLisle, Brenda (2012)
      Background: At the end of 2009, there were 33.3 million people living globally with the Human Immunodeficiency Virus (HIV) with 2.6 million new infections occurring annually (UNAIDS, 2010). In the Commonwealth of the ...
    Advanced search

    Browse

    Communities & CollectionsIssue DateAuthorTitleSubjectDocument TypeThis CollectionIssue DateAuthorTitleSubjectDocument Type

    My Account

    Admin

    Statistics

    Most Popular ItemsStatistics by CountryMost Popular Authors

    Follow Curtin

    • 
    • 
    • 
    • 
    • 

    CRICOS Provider Code: 00301JABN: 99 143 842 569TEQSA: PRV12158

    Copyright | Disclaimer | Privacy statement | Accessibility

    Curtin would like to pay respect to the Aboriginal and Torres Strait Islander members of our community by acknowledging the traditional owners of the land on which the Perth campus is located, the Whadjuk people of the Nyungar Nation; and on our Kalgoorlie campus, the Wongutha people of the North-Eastern Goldfields.