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The distressing impact of rare diseases

Much more needs to be done to address the problem of effective communications with stakeholders and adequate information for patients affected

The distressing impact of rare diseases

The lack of resources for, and information about, rare diseases is taking a significant emotional toll on patients, relatives and caregivers, according to a report released earlier this year.

Shire's Rare Diseases Impact report also found frustration among doctors at not having enough information, and facing limited resources, when treating patients with rare diseases, whose medical appointments are generally longer and more frequent than those for more common conditions.

The company, which has a significant stake in the area, conducted online surveys in January among more than 1,000 US/UK rare disease patients, carers, doctors, payers, government/institution representatives and thought leaders on the issue.

The report made a series of recommendations, calling for more collaboration among doctors and easier access to specialist consultants in the field, to shorten patient journeys and reduce stress levels caused by misdiagnoses and being shifted from one doctor to another. It suggested this could be achieved by raising awareness of physicians through educational programmes and creating more networking platforms. 

Another recommendation of the report focuses on generating additional resources for patients and caregivers to minimise the emotional impact of rare diseases. It noted that less than half of clinicians both in the US and the UK provide written materials about rare diseases. The need to expand the current body of knowledge with extra scientific research to frame guidelines on treatment options for patients and financial coverage was also recommended.

The cost of rare diseases is another major obstacle to care, according to payers cited in the reports. Treatments, drugs, diagnostics and visits to consultants make care less affordable. Because of the differences in the US healthcare system and the UK's NHS, the responses of payers are substantially different. In the UK, only 30 per cent agreed with the statement that rare diseases require more prescription medicines, while in the US the figure was 90 per cent. Although in both countries, there is agreement among the payers surveyed that the cost of caring for rare diseases in the future is hard to predict as there are no clear guidelines for coverage. Other reports claim that quality of care varies wildly in the UK, but similar problems such as lack of clear pathways, care coordination and poor communications infrastructures are common for patients in the rare diseases community across different countries.

Stressful patient journeys
More than half of the patients and caregivers surveyed found themselves having to provide information to healthcare professionals about their illness, as many doctor simply lack exposure and training on diagnosing and managing rare diseases. The patient becomes the main researcher and care coordinator as well as advocate of their own condition, according to the Shire report.

The uncertainty, conflicting information, wrong diagnoses, frequent trips to different doctors and specialists cause stress and anxiety in patients. The delays in getting a diagnosis are particularly acute in the US, where it can take up to eight years for a patient to receive an official medical confirmation regarding a rare disease. In the UK it takes up to six years. After that, patients suffer the stressful experience of having to troll for information, agonising decision-making on treatments or lack of options and managing the illness, as well as coping with how to cover the direct or indirect expenses they accrue.

The report found that the economic impact of a rare disease can be truly devastating. There is a need for more diagnostic tests, which are costly, more visits to specialists and more psychological support, in particular in the US, according to payers. 55 per cent of US patients pointed out that expenses associated with rare diseases are not covered by health insurance policies and many resort to borrowing money from family and friends to pay for medical expenses. In the UK, 18 per cent of those with rare diseases are not getting treatments on the NHS, having to pay for them privately. A problem flagged by payers is that coverage can be difficult to ascertain, as there is a lack of standards of care and guidelines, which is again associated with a vacuum in information, resources and research.

Companies can become a centralised resource for education on rare disorders

A stressful long, expensive and uncertain patient journey takes a major emotional toll on patients and their caregivers. Patients with rare diseases are likely to suffer from depression, anxiety, worry about lack of information and future outlook of the diseases, as well as reporting feelings of isolation. When there is no treatment, the impact on mental health is even greater. A US patient with Multiple Hereditary Exostosis (that can cause bone cancer) quoted in the report said: “Finding a doctor that can treat me is the most difficult part. I have travelled to many states looking for a qualified doctor.” 

A UK patient with mixed connective tissue disease (an autoimmune rare disease which has the signs and symptoms of lupus, scleroderma, polymyositis, and rheumatoid arthritis) stated: “Getting a correct diagnosis was so difficult, stressful and humiliating at times. I found that doctors did not like to listen to my take on things, they did not like my asking relevant questions or expressing concerns, looked only at specific test results and if these were not fitting into the categories of their particular expertise or discipline, they would dismiss me. There was also a lot of 'passing' me from doctor to doctor without an overall coordinator of care.” 

What role can pharma play?
The pharmaceutical industry is undergoing a transformative approach to rare diseases, as orphan drugs address a high unmet medical need and have been proven to be commercially attractive. Pharma and biotech companies can play a pivotal role in fostering scientific research in rare diseases, creating networking opportunities, working with doctors and patients to build communication channels, helping mitigate information needs, educating patients and doctors and optimising resources. 

The very nature of rare diseases means doctors, both at a primary care and a specialist level, see rare disease patients - especially those with the same disorder - infrequently. Noting the difficulty this creates in building up sufficient experience in all phases of diagnosis, treatment, and supportive care, the report says the healthcare professionals surveyed backed increased education and support to assist them in gathering and sharing rare disease information. Strikingly, fewer than half of those questioned thought there were enough opportunities to network with other physicians who treat rare diseases.

For payers the lack of information often places them in uncharted territory. The shortage of information led almost all payers surveyed to indicate that compared to common diseases of comparable severity, there is less information available to help determine the standards of care for rare diseases. An overwhelming majority said it is more difficult to decide what coverage to provide for rarely seen diseases.

Finally, for pharma's interactions with patients one of the challenges is that there is often no single unified voice for individual conditions. Where that's the case umbrella organisations representing the collective interests of patients and caregivers in the rare disease community are best engaged with. Companies can then become a centralised resource for education on rare disorders and access to orphan drugs.

This article was originally published in the PME supplement Orphan Drugs and Rare Diseases: Strategic communications for orphan drugs

Article by
Catarina Feria-Walsh

freelance journalist specialising in the pharmaceutical industry

24th February 2014

Article by
Catarina Feria-Walsh

freelance journalist specialising in the pharmaceutical industry

24th February 2014

From: Marketing, Healthcare



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