EurordisCare3 Survey
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Executive Summary
Rare diseases are often chronic, progressive, degenerative, life-threatening and disabling diseases. Many rare disease patients are denied their right to the highest attainable standard of health and continue to advocate their need to overcome common obstacles. Through the publication of this book, “The Voice of 12,000 Patients”, the patient’s perspective can go beyond patients’ anecdotes and be additionally represented by the analysis of data collected through the EurordisCare2 and EurordisCare3 surveys. These surveys investigated patients’ experiences and expectations regarding access to diagnosis and to health services, for a variety of significantly relevant rare diseases across Europe.
| Key findings of the EurordisCare2 Survey on delays in, and conditions surrounding the announcement of diagnosis include: |
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| 25% of patients reported waiting between 5 and 30 years from the time of first symptoms to a confirmatory diagnosis of their disease |
| 40% of patients were initially misdiagnosed leading to severe consequences such as inappropriate medical interventions, including surgery and psychological treatment |
| 25% of patients had to travel to a different region to obtain a diagnosis and 2% had to travel to a different country |
| In 33% of cases, the diagnosis was announced in unsatisfactory terms or conditions. In 12.5% of cases, it was announced in unacceptable ones |
| The genetic nature of the disease was not communicated to the patient or family in 25% of cases. This is paradoxical, given the genetic origin of most rare diseases |
| Genetic counselling was only provided in 50% of cases |
| Key findings of the EurordisCare3 Survey on the experience and expectations of rare disease patients on access to care include: |
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| The average patient required more than nine different medical services, over the two-year period preceding the survey. This number ranged from approximately four different medical services to nearly 12 different medical services depending on the disease |
| 26% of patients reported difficult, very difficult or impossible access to services. Lack of referral was the greatest barrier in accessing essential medical services |
| 10% of patients reported that the essential services they sought poorly met their expectations or did not meet them at all |
| 29% of respondents required the assistance of a social worker in the 12 months preceding the survey. While the majority of patients reported easy or very easy access, more than one-third met one with difficulty or could not meet one at all |
| 50% of respondents seeking social services reported that their expectations were only met “somewhat” or even “not at all” |
| 16% of respondents had to move house, usually to relocate to one better adapted to their health needs |
| 29% of respondents reported a patient in their family had to reduce or stop professional activity as a result of their disease and an additional 30% of respondents reported one member in the family had to reduce or stop professional activities to take care of a relative with a rare disease |
| 18% of respondents experienced rejection by a health care professional. The majority of patients reported a reluctance of professionals to treat them due to the complexity of their disease |
Page 2: Centres of Expertise, expecations and implementation >
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