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Rare Disease Day: Self-help associations and doctors provide information
On the occasion of the official International Day of Rare Diseases on February 28, self-help organizations and medical professionals point out that around 36 million citizens in the EU suffer from rare diseases.
According to the definition of the European Union, rare diseases (orphan disease) are diseases that affect fewer than one in 2,000 people. Each of these diseases in itself affects only a tiny fraction of the population, but all rare diseases together affect around seven percent of the population in the EU (36 million people). According to the self-help organizations, around four million patients in Germany have a rare disease. For this reason, experts have long been calling for improved medical care and more research in the field of rare diseases, as well as intensive educational campaigns to bring about a change in social awareness.
Coordination Center for Rare Diseases In Austria, a National Coordination Center for Rare Diseases (NKSE) was set up at Gesundheit Österreich GmbH at the beginning of the year. As an information and communication hub for doctors, medical staff, sufferers and relatives, the NKSE should in future help to meet the specific challenges of patients with rare diseases. One of the declared goals of the NKSE is to offer support in the development of integrative overall concepts for the diagnosis and supply routes. Because of the small number of patients with the individual clinical pictures, there are some overarching structural problems in the rare diseases, which most often manifest themselves as deficits in patient care or in diagnosis and therapy. According to the self-help organizations, rare diseases are often life-threatening, chronic, multi-organ diseases, so that interdisciplinary therapeutic approaches are urgently required to ensure adequate care for patients.
Rare diseases often genetically determined According to the National Network of Rare Diseases, around 17,000 genetically caused rare diseases are currently known worldwide, whereby around 80 percent of rare diseases are based on a genetic cause. Since the individual diseases are extremely rare and there is usually no public awareness of the diseases, those affected and their relatives are often faced with special difficulties. Not only does the lack of diagnostic and treatment standards cause extreme difficulties here, but also the lack of interest of the pharmaceutical industry in the research of appropriate medicines leads to further deficits for those affected. Due to the low sales opportunities, the research interest of pharmaceutical companies in the field of rare diseases is not very pronounced. For this reason, several states and the EU have passed regulations and laws that are intended to improve the treatment of rare diseases. For example, pharmaceutical companies that develop new drugs for the treatment of rare diseases in the EU and the United States are being given relief for their approval and marketing.
Rare diseases such as glass bone disease and cystic fibrosis Rare diseases include, for example, glass bone disease (osteogenesis imperfecta), cystic fibrosis, progeria (early aging or aging) and amyotrophic lateral sclerosis (degenerative disease of the motor nervous system). The rare diseases affect the skeletal system, the brain, the spinal cord and the nervous system more often. Rare diseases are often very serious diseases that require extensive treatment and care for the patient and sometimes result in the death of the patient in childhood or adolescence. Tomorrow's international day of rare diseases. Want to use medical professionals, those affected and self-help associations to draw attention to the problems of those affected and to place rare diseases in the public eye. (fp)
Center for rare diseases opened
Image: Rainer Sturm / pixelio.de