02.03.2018 Improving awareness of rare diseases

Rare diseases. The subject of the 8th international Rare Disease Day in Switzerland this year is "I have a diagnosis. What happens now?" Jean-Marc Nuoffer, Chief Physician in Metabolic Analytics and head of the Interdisciplinary Metabolism Team at the Inselspital in Bern, tells us what it means to go for a long time with no diagnosis and what is urgently needed to improve matters.

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spectra: The theme of Rare Disease Day this year is “I have a diagnosis. What happens now?” Why is having a diagnosis particularly important for people who have a rare disease?

Jean-Marc Nuoffer: It is important for anyone who is ill to know what their disease is. The problem is that the diagnostic odyssey and associated uncertainties and fears can often last for years if you have a rare disease. Having a diagnosis puts an end to that, since it means doctors can start giving disease-specific advice and care and can avoid inappropriate treatments. A diagnosis is essential for specific treatment, enrolment in clinical trials and the development of new treatments. For patients, it means being able to share experiences with other people who have the same condition. A correct diagnosis of the cause of any disease is essential for the development of treatments. The rarer a disease is, the more important this becomes.

A correct diagnosis of the cause of any disease is essential for the development of treatments. The rarer a disease is, the more important this becomes.

It can often take a long time until patients and their families find out what the disease is. What needs to be done to speed up the process of diagnosis?

There's no powerful lobby. We need to improve awareness of rare diseases among the public and healthcare professionals. Diagnoses of idiopathic diseases – diseases with no tangible cause, in other words – should be avoided and be evaluated by specialists. The decision on whether to carry out accredited genetic investigations should be taken by rare disease specialists and not by insurance companies.

How well organised is psychosocial support for patients?

Support is often inadequate, and getting reimbursement for services is a battle – like it is for diagnosis. People with rare diseases often feel misunderstood; insurance companies will only pay for a large number of services in response to applications and appeals. The administrative work involved is enormous, regional rules vary and are not transparent. This is another challenge for everyone – on top of the problems associated with the disease itself and the burden that families have to bear. We need better coordination between care at centres and on-the-spot support.

Where could there still be gaps, and why?

New rare diseases are being described every year, and new treatments are constantly being developed. Our healthcare system should be able to keep pace with that. The current legal framework, with its positive lists and administrative routes, is not helpful in enabling it to do so. The National Rare Disease Policy needs to be fully implemented and re-evaluated. We need national reference centres with specific competences. However, it’s my opinion that the financial side of the National Policy is still inadequate. Patients need to be given access to international clinical networks.


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