If only a maximum of 5 out of 10,000 people suffer from a certain disease, it is considered rare – and for almost none of them there is an effective therapy. Those who suffer from this are often met with pity and then feel all the more ostracized. What would help those affected more?
People with rare diseases want less stigmatization and more acceptance in society. “Other people often react with an embarrassing silence or speak of a ‘terrible’ or ‘terrible’ disease,” said Nadine Großmann from the board of the Loudrare association in the run-up to Rare Disease Day on February 28. “But we don’t want any sympathy,” so die Berliner. The association wants to give those affected a voice and with the campaign
Many reactions come from ignorance, are thoughtless and not meant badly. “Yes, it’s not easy to live with my illness. It leads to a lot of mobility restrictions. But I don’t want to be constantly associated with negative terms. The illness is part of me and I can’t just magic it away,” says the 31 -year-olds with the rare genetic defect Fibrodysplasia Ossificans Progressiva (FOP), also known as Münchmeyer syndrome. FOP describes the pathological, progressive ossification of the connective and supporting tissue of the human body.
Just 45 people in Germany are known to have this diagnosis. Scar tissue does not form during wound healing, but bone. Even minor injuries can cause joints to suddenly become immobile and the body to slowly stiffen. “The bones form where they don’t belong,” says the biochemist from Freie Universität Berlin, who is currently researching her own disease in Philadelphia.
“If someone keeps telling us that the disease is terrible, we have to process it again and again and deal with it,” says Großmann. This can always open up wounds. “That’s the worst for us,” she says. The diseases are not necessarily always terrible. “We come to terms with it. You find your way,” says the researcher.
“It would help us a lot more if people reacted neutrally and showed genuine interest. Then you can have an open conversation,” says Großmann. In her view, more inclusion in daycare centers and schools would also help to see the rare as normal.
In addition to Großmann, the association presents five other people with rare diseases in the campaign. In Germany, around 8,000 diseases are considered rare, and according to the association, there is no approved therapy for 95 percent. Around four million patients in Germany are affected by a rare disease. In the EU, a disease is considered rare if it affects no more than 5 in 10,000 people.
