New help program for rare diseases

Numerous measures are intended to help sufferers of rare diseases

08/28/2013

Around four million people in Germany suffer from one of around 8,000 so-called rare diseases. The National Action Plan for People with Rare Diseases (NAMSE) „includes a total of 52 measures to tackle the most pressing issues for those affected and their relatives“, so the current press release of the Federal Ministry of Health. One of the stated goals is to give doctors and patients better information, „so that the affected people can come to a reliable diagnosis more quickly.“

The Federal Ministry of Health's Daniel Bahr, Parliamentary State Secretary at the Federal Ministry of Research, has approved the Action Plan for People with Rare Diseases. Helge Braun and the Chairman of the Alliance of Chronic Rare Diseases (ACHSE) e.V. Christoph Nachtigäller today presented to the public. In addition to improving the information, the medical care structures should be expanded and competences bundled. In addition, an intensification of research in the field of rare diseases is provided, the current decision.

Solutions to the problems of people with rare diseases
„The National Action Alliance for People with Rare Diseases has succeeded in proposing solutions to the most urgent problems of nearly four million affected people here in Germany alone“, emphasized the Federal Minister of Health. Because these diseases are very rare, we need to build on existing skills and bring them together in centers and networks, concludes Daniel Bahr. In this way should be achieved, „that patients can be diagnosed faster and then receive the necessary care.“ Because for those affected, the rare diseases are often associated with a veritable odyssey through the health system, as many physicians, the symptoms are unknown and also about possible treatment approaches, only little knowledge is available.

8,000 different rare diseases known
According to the information provided by the Federal Ministry of Health, one applies „Disease as rare if not more than five out of every 10,000 inhabitants in the European Union suffer from this condition.“ From such diseases are about 5,000 to 8,000 known. Here are the „Rare diseases a very heterogeneous group of mostly complex diseases“, which is common, „that they are usually chronic, associated with disability and / or reduced life expectancy and often lead to symptoms in childhood“, reports the ministry. About 80 percent of the rare diseases are genetically determined or co-conditional. In August 2009, the Federal Ministry of Health had a research report entitled „Measures to improve the health situation of people with rare diseases in Germany“ which analyzed the health care situation of people with rare diseases in Germany and named priority areas for action as well as suggestions for improvement.

Better prevention, diagnosis and therapy required
The then investigation comes according to the Federal Ministry of Health „Summing up the conclusion that in the pluralistic structured health care system sustainable improvements in prevention, diagnosis and therapy of rare diseases can only be achieved if it is possible to bundle initiatives and to effect a joint, coordinated and goal-oriented action of all actors.“ This should now be done with a resolution of the National Action Plan. „The Action Plan will take concrete action to provide these people with better care“, emphasized the Federal Minister of Health.

Intensification of research
Parliamentary State Secretary Braun explained at the presentation of the decision that „an important key to achieving the objectives of the National Action Plan in research and development“ lies. For this reason, the Federal Ministry of Research has provided project funding of up to € 27 million until 2018 for national and European research collaborations. The intensification of the research should help to elucidate the disease mechanisms, to identify genetic causes and to develop new diagnostic and therapeutic procedures. So far could „Researchers are already identifying more than 70 disease-causing genes, creating the conditions for more accurate diagnosis and new therapeutic approaches. However, the knowledge of many of these rare diseases is still incomplete and much remains to be done“, stressed brown.

Action plan incorporates those affected
The decision of the National Action Plan received a good deal of support from the parties concerned or the ACHSE e.V. It is to be welcomed that it with the „National Action Plan has succeeded in focusing on the concerns of patients and finding needs-based solutions“, emphasized Christoph Nachtigäller, chairman of the ACHSE. The expert added that for rare diseases a great deal of expertise lies with those affected, who collect information and experience and form networks out of necessity. „This expertise has become part of the national plan“, so Nachtigäller continues. A significant improvement for the patients, the leaders also hope for the development of a „Atlas Rare Diseases“, as an interactive map to give an overview of the supply landscape in Germany. This will make it much easier to find the right contact person in the future. (Fp)