On the occasion of the World Day for Rare Diseases, held Thursday, 28 February, NAU XXI publishes in its Internet space ( http://nauxxi.uv.es ) its second report, entitled 'Minority Disease. Alone, we are few, together we are many ', a document pretends to be a starting point to establish a debate that will help lay the foundation on which to establish a social awareness of the "rare diseases" and its problems, both for the benefit of the sick persons and their families, and for society in general.
This report, which was prepared by a committee of expert clinicians, researchers and science communicators, composed by Francisco Dasí, Pilar Codoñer-Franch, Amparo Escribano, Rafael Fernández-Delgado, Federico Pallardó and Mercedes Navarro, defines the concept of rare diseases, establishes that common characteristics shared by them and raises what it means to live with a disease like this.
According to the document, the term rare disease was coined in the 70s of last century to define a set of inherited metabolic diseases presenting a low incidence and heterogeneous symptoms. Most are serious and significantly alter the quality of life of patients. Many are deadly. Some are so rare that only a few cases have been reported worldwide. In fact, rare diseases in the EU are those whose prevalence is less than five cases per 10,000 people in a community.
However, the title chosen for this second report, 'Minority diseases. Alone, we are few, together we are many ', XXI NAU perfectly illustrates this problem. The idea of many is understood if we set the focus in not negligible prevalence per 10,000 inhabitants, but on the sum of all those affected by the diversity of existing Rare Diseases (described in different classes 5000-8000). If we focus on this, according to the report NAU XXI, 30 million people are affected by rare diseases in Europe, around three million in Spain, accounting for between 6% and 8% of total European citizenship.
Second, choose to title the report "rare disease" instead of "rare diseases" answers, according to its authors, that the term rare is a literal translation of English "rare disease", language in which "rare" has a sense of "rare" or "uncommon", and is not in any way derogatory as with the Spanish language. No wonder, therefore, that some patients and their families claim that "I'm not weird."
A pot with multiple points of contact
Despite the great diversity of rare diseases, according to the report, a number of common issues exists for rare diseases. The first is the delay in knowing the condition to suffer. Since the first symptoms appear, sometimes at birth or shortly after, the diagnosis can take months or even years. In general, they are often serious, chronic and often degenerative. Most of them cause dependency and loss of personal autonomy, and the onset of the disease occurs in childhood in 50% of cases. Many are incurable, providing no effective treatment, and families have great difficulty in getting adequate treatment.
The problems are related to generate high social and health costs that involve both the study and treatment of this group of diseases that is generally unknown origin. And when drugs exist they reache prohibitively high prices because there is scarce research for these diseases.
The report, which invites awareness and social awareness of these great social and clinical problems, sheds positive data to continue this debate. First, research on rare diseases has contributed to the progress of human genetics and treatment of common diseases. For example, studies in Fanconi anemia have advanced in the knowledge of the mechanisms involved in cancer development and resistance to chemotherapy.
Secondly, and finally, according to the authors, more "a greater number of associations implies not only to promote and fund research, but also organize and track the results of research on the disease, in collaboration with various government agencies, the pharmaceutical industry and clinical researchers and academics", they conclude. Some light for these minorities that fight for universal progress.
You can view the report by CLICKING HERE .
Last update: 28 de february de 2013 08:50.
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