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“Orphaned” in the truest sense of the word

What about the “rare” ones in Germany? To clarify this question, the company Genzyme invited people to a press conference on the occasion of Rare Disease Day. Among others, two physicians reported at the event on their clinical practice in the diagnosis and treatment of orphan diseases. Both in detail - using the example of the diagnosis of Pompe disease - and in general - with regard to the treatment of rare metabolic disorders - the lectures showed that the care for patients with rare diseases in Germany is not sufficient. The error lies in the system – and in the lack of networking between the players.

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First publication date: 28.05.2013

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>>Dr. Hans-Peter Schulz, Genzyme Germany, opened the press conference with a review of the company's history and introduced the problem of treating rare diseases: On the one hand, specialized medical centers are “very fit” in this area, and on the other However, there is a major deficiency in the page
Treatment of patients by resident doctors. Above all, the communication between the specialized and established practitioners still leaves something to be desired.
Dr. Bertold Schrank, Department of Neurology at the German Diagnostic Clinic Wiesbaden, using the example of Pompe disease. This disease occurs in its classic, severe childhood form most often in Taiwan, but in Europe it mostly begins in adolescence or adulthood. It also progresses more slowly and is initially expressed by symptoms that are underestimated by those affected and interpreted as a lack of fitness, such as shortness of breath

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