Luxembourg, 24/06/2005 (Agence Europe) - The Luxembourg Presidency of the Council of the European Union concluded its work on health with a conference on rare diseases, which allowed sufferers, their families and the many European support organisations to take the floor. For two days-21 and 22 June in Luxembourg- they exchanged information, first-person accounts, discussions on themes as varied as diagnostic error, improved care, and research and progress in therapies.
What is a rare disease? Technically, it is a disease afflicting no more than one person in 2000. There are nearly 6000 of them in total, but many rare diseases have still not been identified. In the case of some diseases, there are only some 30 documented cases. But when put end-to-end, these diseases are a real problem for public health because, as the Director for Health at the European Commission (DG SANCO), Fernand Sauer pointed out, they add up to around 30 million sufferers in the European Union. And in many cases, these 30 million patients are suffering from extremely incapacitating illnesses. For this reason, Terkel Anderson, president of Eurordis (European Organisation for rare diseases), sees this as a "test case for cooperation" on healthcare issues in Europe. Referring to the suffering of patients and problems caused by "the increasing number of medical texts which fail to provide any solution", the Luxembourg Minister for health, Mars di Bartolomeo, also stressed that this was a "major public health problem". He stated that in the absence of broader Community competencies on healthcare matters, we should "move forward using the open method of coordination". This progress is possible, said Fernand Sauer, in the fields of best practice and in the movements of medical samples and, if necessary, patients. "We don't need laws; we need goodwill (...). And money", said Mr Sauer.
Patients' expectation
Summing up patient expectations, Christel Nourissier of Eurordis set a number of objectives to be achieved by 2015: -improving training- particularly the lifelong training- of paediatricians (they must also be "trained up to the doubt", Ms Nourissier noted); -reducing the administrative burden on families; -improving information about the diseases and their consequences; -improving therapy and the quality of healthcare by the creating guidelines on best practice. Christel Nourissier, whose daughter had to wait for many years before her Prader Willi Synrome was diagnosed by doctors in Ontario, Canada, even though her family is actually from France, stressed the need for doctors to go to their patients rather than putting the emphasis on the free movement of patients. "We can't drag our children the length and breadth of Europe!", she said, pleading in favour of the creation of reference Centres to study samples and, in certain cases, receive patients for an initial prescription, but whose main task would be to ensure the distribution of pathology and treatments to local doctors, particularly those working with children. Only a short time ago "nobody wanted to see ill people, who had no social existence", but "Europe is helping us out of this situation", Christel Nourissier said. Today, Europe has added value to offer by 1) improving the coordination between public health programs and research, 2) establishing a European network of reference centres, 3) creating guidelines and 4) mapping existing resources. Dr Ségolène Aymé, who heads up the "rare diseases" Task Force which was created last year by the European Commission, added to this overview by stressing the need for the Commission to create instruments to guarantee sustainable financing for long-term actions (referring in particular to information for patients or the distribution of acquired knowledge). "We must fight for rare diseases not to be penalised" by the budgetary reductions threatening the 7th framework programme of research, said Dr Aymé, who pointed out that "the scientists' agenda is not always the same as the patients' agenda" and that it should also be ensured that research is directed towards the most urgent needs of sufferers.
The obstacle race for sufferers and their families
Delays in diagnosing rare diseases constitute the first difficulty for patients. As this aspect remains poorly documented, Eurordis has undertaken to carry out an investigation (EurordisCare 2), speaking directly to sufferers via a network of 67 associations representing eight rare diseases (Crohn's disease, Duchenne's disease, Marfan Syndrome, Prader Willi Syndrome, Bourneville Pringle Syndrome, Ehlers-Danlos Syndrome, Fragile X Syndrome and cystic fibrosis) across 18 countries. Of the 18,000 patients who have received a questionnaire in their own language) 12 languages), almost 6000 have responded. This mass of information, which is without precedent in terms either of its volume or the diversity of countries of origin, gives an idea of the public health problem caused by delays in diagnosis. According to the sufferers, a quarter of patients have to wait an average of five years for the least uncommon rare diseases to be diagnosed, and up to 30 years for the very rare ones such as Ehlers-Danlos syndrome, between suffering their first symptoms and being correctly diagnosed, Dr Francois Faurisson explained.
During these "lost years", 40% of sufferers are wrongly diagnosed, on the basis of which one in six patients undergo surgical treatment, and one in 10 receive psychotherapy. In this way, one quarter of all Marfan Syndrome sufferers have been wrongly diagnosed at least once. In the case of Ehlers-Danlos Syndrome, half of all patients were at first treated for a disease other than the one they have. Alongside the differences related to the physio-pathological aspect of these diseases, clear disparities can be seen between countries. Diagnostic error hits one third of patients in Finland, Spain, the United Kingdom and Ireland, and up to 50% in Austria, Denmark, Germany, Romania, Sweden and Poland. In other countries, fewer diagnostic errors are made, but in many cases, the sufferer is left without diagnosis for at least as long. It is worth noting that waiting time for the diagnosis varies between both the countries and the illness. In the case of Fragile X, for example, the diagnosis takes three times longer in France (63 months) than in Finland (21 months). All of these disparities can be explained by cultural differences, particularly in terms of perception of pain and pain thresholds, or technical differences, for example in the organisation of the health-care system. In all cases, they show that the longest delays in diagnosis are not biologically unavoidable and call for all countries to take the lead from those where the diagnostic delays are the shortest. Diagnostic error and delay drive patients from doctor to doctor- on average three or four for sufferers of cystic fibrosis and up to 13 in the case of the Ehlers-Danlos Syndrome- with the resulting loss of faith in the medical world, which affects 20% of sufferers and their families. Delays in diagnosis obviously has direct consequences on the patient and, in cases of genetic illnesses, for the family. The way the diagnosis is announced also leaves a lot to be desired in many cases: in one third of cases, patients and their families feel this to be unsatisfactory; in one case out of every eight, it is put in a way which is felt to be unacceptable. The announcement of the diagnosis, which was regularly brought up during the conference, is often made with no psychological element or, more seriously, tactlessly and without sufficient explanations. Still more surprising is the fact that in 25% of cases, the patients or family have not been made aware of the genetic nature of the disease, even though 80% of rare diseases are genetic in origin. In only 40% of cases have patients been genuinely invited to inform themselves of the genetic risk. Apart from its own results, this investigation shows that associations are an original source of scientific information thus contributing to the progress of knowledge about these diseases, Dr Faurisson adds.