Rare diseases inform physicians

Day of Rare Diseases: self-help associations and doctors clarify

27/02/2011

On the occasion of the official International Day of Rare Diseases on 28th February self-help associations and medical professionals point out that in the EU about 36 million citizens suffer from a rare disease.

According to the definition of the European Union, rare orphan diseases are diseases that affect less than one in 2,000 people. Each of these diseases is by itself a tiny fraction of the population, but of all the rare diseases together, around seven percent of the population in the EU (36 million people). According to the self-help associations, approximately four million patients in Germany have a rare disease. Therefore, experts have long been calling for improved medical care and Rare Disease research, as well as intensive education campaigns to bring about a social change in attitudes.

Coordination Center for Rare Diseases
In Austria, at the beginning of the year, a National Coordination Office for Rare Diseases (NKSE) was set up in Gesundheit Österreich GmbH. In the future, NKSE will serve as an information and communication hub for doctors, medical staff, affected persons and relatives, helping to meet the specific challenges of patients with rare diseases. One of NKSE's stated goals is to provide support in the development of integrated overall concepts for the diagnosis and care routes. Because of the small number of patients with the individual clinical pictures, there are some overarching structural problems in rare diseases, which are most often manifested as deficits in patient care or diagnosis and therapy. According to the self-help organizations, Rare Diseases are often life-threatening, chronic diseases affecting multiple organ systems, so urgent interdisciplinary approaches are needed to ensure adequate patient care.

Rare diseases often genetic
According to the National Network of Rare Diseases, around 17,000 genetically-related rare diseases are currently known worldwide, with approximately 80 percent of Rare Diseases underlying a genetic cause. Since the individual diseases are extremely rare and usually no public awareness of the diseases, those affected and their relatives are often faced with particular difficulties. Not only 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 drugs brings further deficits for those affected. Due to the low sales opportunities, the research interest of the pharmaceutical companies in the field of rare diseases is less pronounced. As a result, several states, including the EU, have issued regulations and laws designed to improve the treatment of rare diseases. For example, pharmaceutical companies developing new medicines for the treatment of rare diseases are being granted regulatory approval in the EU and the US.

Rare diseases such as vitreous bone disease and cystic fibrosis
Examples of rare diseases include vitreous bone disease (osteogenesis imperfecta), cystic fibrosis, progeria (premature aging or aging) and amyotrophic lateral sclerosis (degenerative disease of the motor nervous system). The rare diseases more frequently affect the skeletal system, the brain, the spinal cord and the nervous system. Often, rare diseases are very serious illnesses that require extensive treatment and care of the patients and sometimes already in childhood or adolescence cause the death of the patient. Tomorrow's International Day of Rare Diseases. Do medical professionals, those affected and self-help associations want to use them to draw attention to the problems of those affected and to place rare diseases in the spotlight of public interest. (Fp)

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Picture: Rainer Sturm