Rare diseases [1] , Also called minority orphan, rare, rare, or low prevalence are diseases that have a low frequency and rarely appear in the population. To be considered rare, each specific disease can only affect a limited number of the total population, as defined in Europe as less than 1 per 2,000 persons (EC Regulation on Orphan Medicinal Products). So given its rarity, was chosen this year for the first time a rare day as February 29 to spend with rare diseases, "a unique day for unique people" as goes the slogan of the campaign.
Although no one has been able to count all rare diseases exist, their number is shuffled between 5,000 and 8,000, depending on the source, of which between 75 and 80% (also depending on the source) are of genetic origin affecting children. In terms of Spain speaks about 3 million people, 30 million if we talk about all the European Union, and generally 7% of world population.
Most neighboring countries, among which are France, Denmark, England, Italy and Portugal, have developed action plans and information systems to improve the situation of these patients. The federations of these and other countries, including the English Federation Rare Diseases ( ERDF), are integrated into a network, the European Union Organization for Rare Diseases ( EURORDIS ) which is the largest federation of federations of European Union countries. Thanks to the intervention of the European Parliament EURORDIS is promoting research on these diseases. The Seventh Framework Programme of the European Union considered rare diseases as a priority in their actions , placing more emphasis on the work of European research networks created in the previous Framework Programmes, V and VI.
In Spain the focus on rare diseases is relatively new and currently not There is even a system of epidemiological surveillance of these diseases. The diversity of rare diseases, their low prevalence and heterogeneity of the same does not allow comprehensive monitoring of all of them or the plurality of sites and types of care they receive (from primary care centers to hospitals, to specialized centers for rare diseases, through family doctors, pediatricians, specialists, etc.) besides making it difficult to identify and locate. The creation of a network so as to identify epidemiological and have enough patients to conduct research that are representative of the population, is deemed essential to advance knowledge of the natural history of these diseases and the recognition of their specificity in order to facilitate early diagnosis.
Moreover, the difficulty in diagnosing rare diseases may cause a delay in seeking help and a worsening in the situation of patients, and many of them involving disabilities of all kinds, with some very severe as well as situations of dependency, both the health and medical field in its broadest sense. It is therefore necessary to assess the needs and the evolution of these patients within the health system and their families, with special attention social determinants of their quality of life.
Proper attention to rare disease involves a multidisciplinary approach involving clinical research teams, genetics, pathophysiology, treatment and social and human sciences, as well as the optimal use of existing technology.
Since early 2008 is underway preparing the National Strategy Rare Diseases National Health System, involving the Ministry of Health, scientific societies and patient organizations, in order to address Overall the problems and needs experienced by over three million of people living in Spain. According to Health Minister, Bernat Soria, the Strategy for Rare Diseases of the NHS will give priority to early diagnosis of these diseases, training of professionals in all levels of care and research, investing in the area of \u200b\u200borphan drugs. Also, be taken into account the initiatives being carried out by the Autonomous Communities, the experience developed by the Center for Biomedical Research Network on Rare Diseases and the Institute for Rare Diseases and the paper approved by the Senate of Spain and European experiences.
So far, the pioneer in our community country has been Andalusia last October presented its Comprehensive Plan Rare Diseases 2008-2012. Moreover, Extremadura is working on a plan for the autonomous region in line waiting Andalusian plan to have ready for early 2009.
In Cantabria, the COCEMFE Health Commission, which brings together associations of patients with rare diseases were developed in 2004 a report based on a questionnaire issued to member associations, which reflects the needs and demands of these groups of patients .
In 2008, the OSPC held a panel discussion with the associations which have COCEMFE Main drew the following common needs :
Although no one has been able to count all rare diseases exist, their number is shuffled between 5,000 and 8,000, depending on the source, of which between 75 and 80% (also depending on the source) are of genetic origin affecting children. In terms of Spain speaks about 3 million people, 30 million if we talk about all the European Union, and generally 7% of world population.
Most neighboring countries, among which are France, Denmark, England, Italy and Portugal, have developed action plans and information systems to improve the situation of these patients. The federations of these and other countries, including the English Federation Rare Diseases ( ERDF), are integrated into a network, the European Union Organization for Rare Diseases ( EURORDIS ) which is the largest federation of federations of European Union countries. Thanks to the intervention of the European Parliament EURORDIS is promoting research on these diseases. The Seventh Framework Programme of the European Union considered rare diseases as a priority in their actions , placing more emphasis on the work of European research networks created in the previous Framework Programmes, V and VI.
In Spain the focus on rare diseases is relatively new and currently not There is even a system of epidemiological surveillance of these diseases. The diversity of rare diseases, their low prevalence and heterogeneity of the same does not allow comprehensive monitoring of all of them or the plurality of sites and types of care they receive (from primary care centers to hospitals, to specialized centers for rare diseases, through family doctors, pediatricians, specialists, etc.) besides making it difficult to identify and locate. The creation of a network so as to identify epidemiological and have enough patients to conduct research that are representative of the population, is deemed essential to advance knowledge of the natural history of these diseases and the recognition of their specificity in order to facilitate early diagnosis.
Moreover, the difficulty in diagnosing rare diseases may cause a delay in seeking help and a worsening in the situation of patients, and many of them involving disabilities of all kinds, with some very severe as well as situations of dependency, both the health and medical field in its broadest sense. It is therefore necessary to assess the needs and the evolution of these patients within the health system and their families, with special attention social determinants of their quality of life.
Proper attention to rare disease involves a multidisciplinary approach involving clinical research teams, genetics, pathophysiology, treatment and social and human sciences, as well as the optimal use of existing technology.
Since early 2008 is underway preparing the National Strategy Rare Diseases National Health System, involving the Ministry of Health, scientific societies and patient organizations, in order to address Overall the problems and needs experienced by over three million of people living in Spain. According to Health Minister, Bernat Soria, the Strategy for Rare Diseases of the NHS will give priority to early diagnosis of these diseases, training of professionals in all levels of care and research, investing in the area of \u200b\u200borphan drugs. Also, be taken into account the initiatives being carried out by the Autonomous Communities, the experience developed by the Center for Biomedical Research Network on Rare Diseases and the Institute for Rare Diseases and the paper approved by the Senate of Spain and European experiences.
So far, the pioneer in our community country has been Andalusia last October presented its Comprehensive Plan Rare Diseases 2008-2012. Moreover, Extremadura is working on a plan for the autonomous region in line waiting Andalusian plan to have ready for early 2009.
In Cantabria, the COCEMFE Health Commission, which brings together associations of patients with rare diseases were developed in 2004 a report based on a questionnaire issued to member associations, which reflects the needs and demands of these groups of patients .
In 2008, the OSPC held a panel discussion with the associations which have COCEMFE Main drew the following common needs :
- Training and Information to families or
teachers are needed: to find awareness among parents and families about the importance of their participation. Help them understand this disease and give them ideas of how to support the process.
or The children need support for schooling -to-school and in the relationship with their parents.
- Training for primary care professionals
- Let there be a screening test Cantabria neonatal
- Increase physical therapy services for chronic patients.
- Leads to reference centers : They propose to develop a reference guide resource centers available across territories according to types of diseases.
- mostly psychological assistance to help take the disease to patients of all degenerative diseases.
- Coordination Professional / Institutional : You have to be coordinated among practitioners Cantabria Health Service and Associations with patient consent, to create a multidisciplinary approach and avoid duplication.
- Regarding services, physiotherapy Valdecilla Hospital -: It is recognized and appreciated the professional quality but are critical times and the distribution of sessions, once a week, as well as overloading the service.
- They claim the right to genetic analysis . The information that genetic testing for patients and their families is a right, because from that knowledge must take the decisions (for example, have children or not.)
- Research: the notion that there is little research on rare diseases is because the laboratories do not care. For this reason, the promotion of research should be a focus area of \u200b\u200bpublic institutions. People focus group participants said they felt neglected and lonely in their autonomous community. Wish to participate in studies and research to help improve knowledge about their disease).
associations of patients with rare diseases have indicated their desire that the OSPC may be a new space from which to express their health concerns and participate in the proposed solutions.
_______________________ [1] Prepared by OSPC based on press reports and notes on policies and action plans at regional, national and European as well as the opinions from the Committee on Health COCEMFE , which brings together associations patients with rare diseases, and interviews with researchers in the field. We appreciate the information received from the people who make up the Health Commission and researchers COCEMFE: Domingo Gonzalez-Lamuño , pediatric research in rare diseases, Medical Assistant-Associate Professor of Pediatrics Unit Nephrology-Metabolism Division of Pediatrics, Hospital Infantil M. Valdecilla, Universidad de Cantabria; Carlos Pipaón González, a researcher with Fanconi anemia, the Molecular Genetics Unit, University Hospital Marqués de Valdecilla; Roberto Zarrabeitia Bridge, a researcher with Rendu Osler Medical Service Internal HHT Unit, Hospital Sierrallana.
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