Rare diseases affect 6%–10% of the population, which equates to about 1.2 million people in Australia having a rare disease.
The United States, the European Union and many other nations have coordinated policies and patient advocacy groups for rare diseases as a group.
Australia has enacted orphan drug legislation, but there is no coordinated approach either from government or from patient groups.
General practitioners see rare diseases commonly, but their role for this group has not been adequately described.
People with rare diseases and their families have similar experiences despite their different diagnoses. GPs are well placed to help with these problems.
The development of a generic general practice strategy for these patients may improve their overall care.
- 1. Eurordis. European Organisation for Rare Diseases. What is a rare disease? Available at: http://www.eurordis.org/article.php3?id_article=252 (accessed May 2006).
- 2. National Organization for Rare Disorders. About NORD. Available at: http://www.rarediseases.org/info/about.html (accessed May 2006).
- 3. National Institutes of Health. Office of Rare Diseases. About ORD. Available at: http://ord.aspensys.com/html/resources/about_ord.html (accessed May 2006).
- 4. Eurordis. Rare diseases in numbers. Preliminary report from an on going bibliographic study initiated by Eurordis in partnership with Orphanet. Available at: http://www.orpha.net/actor/Orphanews/2005/doc/Rare_Diseases_in_Numbers.pdf (accessed May 2006).
- 5. Eurordis. European Organisation for Rare Diseases. EurordisCare2: survey of diagnostic delays, 8 diseases, Europe. Available at: http://www.eurordis.org/article.php3?id_article=454 (accessed Mar 2006).
- 6. Eurordis. European Organisation for Rare Diseases. Rare diseases: understanding this public health priority. 2005. Available at: http://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf (accessed Mar 2006).
- 7. Office of Legislative Policy and Analysis. Rare Diseases Act. 2002. Available at: http://olpa.od.nih.gov/legislation/107/publiclaws/raredisease.asp (accessed Jun 2006).
- 8. Orphanet. Available at: http://www.orpha.net/consor/cgi-bin/home.php?Lng=GB (accessed May 2006).
- 9. French National Plan for Rare Diseases 2005–2008. Ensuring equity in the access to diagnosis, treatment and provision of care (2004). Available at: http://www.eurordis.org/IMG/pdf/EN_french_rare_disease_plan.pdf (accessed Mar 2006).
- 10. Department of Health and Aged Care. The orphan drug program and improving community access to effective drugs for rare diseases. 2001. http://www.tga.gov.au/docs/pdf/orphrev.pdf (accessed May 2006).
- 11. Therapeutic Goods Administration. Orphan drug program. Canberra: AGPS, 1998.
- 12. Phillips WR. Zebras on the common: rare conditions in family practice. J Am Board Fam Pract 2004; 17: 283-286.
- 13. MacIntyre FL. One in a million: when extraordinary cases occur in an ordinary practice. J Fam Pract 1993; 36: 17-18.
- 14. Bodenheimer T, Wagner EH, Grumbach K. Improving primary care for patients with chronic illness. JAMA 2002; 288: 1775-1779.
- 15. Australian Government Department of Health and Ageing. Enhanced Primary Care Program. Available at: http://www.health.gov.au/internet/wcms/publishing.nsf/Content/Enhanced+Primary+Care+Program-1 (accessed May 2006).
- 16. Murtagh J. General practice. 3rd ed. Sydney: McGraw-Hill, 2003: 157-163.
Publication of your online response is subject to the Medical Journal of Australia's editorial discretion. You will be notified by email within five working days should your response be accepted.