The common problem of rare disease in general practice

In a combined total of 25 years of general practice experience, we have cared for patients with acromegaly, prolactinoma, Addison disease, glioblastoma, narcolepsy, corneal dystrophy, congenital hypothyroidism, listeriosis, juvenile-onset arthritis, Huntington disease, muscular dystrophy, syringomyelia, Marfan syndrome, Guillain–Barré syndrome, adamantinoma, Laurence–Moon syndrome, reflex sympathetic dystrophy, and the list goes on. Why are we seeing so many rare diseases?

Rare disease is common. Estimates suggest that between 6% and 10% of the community suffer from a rare disease at any one time.1,2 This prevalence is similar to that of type 2 diabetes mellitus. There are significant funded strategies for rare diseases in Europe, the United States and other countries. What is happening in Australia, and what is the role of general practice in rare diseases?

In the US, the National Organization for Rare Disorders (NORD), and the National Institutes of Health, Office of Rare Diseases (ORD), estimate that 25 million Americans suffer from a rare disease.2,3 Based on a US population of 298 million, this gives a prevalence of 8.4%.

The European Organisation for Rare Diseases (Eurordis) estimates that the prevalence of rare diseases is 6%–8%,1 which translates to about 30 million people in the European community. We have been unable to find original data on which these estimates were based. A current Eurordis study4 has examined the prevalence of 230 rare conditions and reports a cumulative prevalence of 1.7%. Based on the lowest of European estimates (6%) and an Australian population of 20 million, it is probable that about 1.2 million Australians suffer from a rare disease.

A 2005 Eurordis survey5 of 5980 patients suffering from one of eight rare diseases identified delayed diagnosis as a major issue: 25% of respondents reported waiting between 5 and 30 years from onset of symptoms to a confirmed diagnosis. Forty per cent of respondents reported an initial wrong diagnosis. This resulted in inappropriate surgery (16% of respondents), medication (33%), or psychological care (10%). Forty-five per cent of respondents reported poor communication about the diagnosis.

Eurordis lists the problems faced by patients with rare diseases and their families as: lack of access to the correct diagnosis; lack of information; lack of scientific knowledge; social consequences; lack of appropriate quality health care; high cost of the few existing drugs and care; and inequities in treatment and care.6

In 2002, the US Congress passed the Rare Diseases Act.7 This was the culmination of 30 years of work by NORD, which had successfully lobbied for the 1983 Orphan Drug Act and for the establishment of the Office of Rare Diseases in 1993. The Act provided legislative authorisation for the Office of Rare Diseases and recurrent budgetary expenditure of US$25 million. The main focus of the US strategy has been to support coordination of disease-based support groups, dissemination of information about rare diseases, and research into commercially non-viable treatments.

Eurordis was established by a coalition of patient-support groups and the European Union in 1997. One of the major innovations funded by the European Union is Orphanet,8 a web-based database of rare diseases, centres of excellence and patient-support groups. Furthermore, many European countries have developed specific public policies on rare diseases.6 France has published a national strategy for rare diseases,9 which includes specific training at all stages of medical education in the recognition and treatment of rare diseases. New Zealand (http://www.nzord.org.nz/) and Canada (http://www.cord.ca/) both have peak patient-representative groups for rare diseases. The original impetus for this effort came from patients seeking access to drugs that, without a focus on rare diseases, lacked regulatory approval or commercial viability (termed “orphan” drugs). The strategies appear to have had some success in increasing access to these drugs.10 The wider impact of such national strategies on the problems faced by sufferers of rare diseases has yet to be assessed.

Australia has had an orphan drug program since 1998.11 The Australian Government is about to implement the National Chronic Disease Strategy. This rightly focuses on the health priority areas of the common chronic diseases. In September 2005, we contacted chronic disease groups of all state and territory health departments and the Australian Government Department of Health and Ageing; we have not been able to identify any coherent policy aimed at improving the care of the many Australians suffering from rare chronic disease.

We have found no published information about the primary care role in rare diseases. The response to rare disease by organisations such as NORD and Eurordis has focused on making information more accessible and on coordinating research efforts into rare conditions. This approach seeks to connect isolated patients with specialised knowledge and specialist clinicians. However, general practitioners also see rare conditions frequently.12,13 What is the role of the GP in patients with rare disease?

Many patients with rare diseases will present their symptoms first to a GP. They will also attend a GP in between visits to the specialist, they will require diagnosis and treatment of common ailments, and will benefit from the preventive health services offered by general practices. They will require the accessible, relationship-based advocacy and support role that is at the heart of good general practice. The same GP will often perform this role for their patients’ carers. A thoughtful, proactive, ongoing response in the context of a continuing relationship with a GP may reduce many of the negative experiences of patients with rare diseases listed above.

In the same way as we are starting to develop a comprehensive approach to the management of chronic disease in primary care,14,15 the common experiences of those with rare disease may be improved by a systematic generic approach. The final structure of this approach should be developed in consultation with the profession, but some possible features of such an approach are given in the Box.

A systematic, generic primary-care approach to rare disease may reduce problems such as lack of coordinated care, lack of information, delayed diagnosis, and other difficulties encountered by people with rare diseases and their carers. It may enable the GP, inevitably confronted by a person with a rare condition, to approach their care systematically. Examples of generic approaches to clinical problems in primary care have been described for negotiating uncertainty16 and managing chronic disease.14 However, we have not found any evidence that a comprehensive approach to chronic rare disease is being developed in primary care in Australia or overseas.

We suggest four strategies to enhance the care of patients with rare disease in Australia.

First, the epidemiology of rare diseases needs to be detailed for Australia.

Second, it is time for better coordination of patient-support groups and centres of excellence at a national level. The establishment of an umbrella organisation, like the Office of Rare Diseases, is long overdue. Linkage with overseas databases and experts would improve access to information.

Third, the patient experience of rare diseases needs to be explored, looking for commonalities and intervention opportunities.

Finally, general practice as a specialty has the opportunity to develop a generic approach to the common problem of rare diseases.