Anita Wieser was extremely lucky in misfortune. The Tyrolean suffers from a rare disease. One she probably wouldn’t have grown old with. The disorder was discovered by accident. After that, however, the doctors at the Innsbruck Center for Rare Diseases left nothing to chance. They are specialists for special cases.
“I was being treated for a lung condition. You accidentally saw the bulge in the main artery,” the 49-year-old begins to tell. The risk of the aorta bursting was great. Ms. Wieser was referred to the Center for Rare Diseases at the Innsbruck Clinic because her vasodilatation was atypical. There, the doctors discovered the rare genetic change (Loeys-Dietz syndrome) that led to a connective tissue disorder and weakened the vessels. “Not a hundred cases of this disorder have been described worldwide. However, the mutation is passed on to children with a probability of 50 percent,” says Sabine Rudnik, Senior Physician at the Institute for Human Genetics, describing why early diagnosis is not only important for those who are acutely affected. Ms. Wieser is doing well today. Part of her main artery was replaced with a prosthesis. The surgery was her salvation. “If diagnosed earlier, we can delay expansion with medication or treatment of the blood pressure,” says heart surgeon Julia Dumfarth, describing alternative therapies if the disorder is recognized quickly. used to be an absolute stroke of luck, hardly being able to get adequate treatment. Today, however, medicine has new methods of finding the needle in the haystack. Attention will be drawn to this on Rare Disease Day. This takes place appropriately on February 29th, in non-leap years on February 28th. Many such disorders: 6000 to 8000 known Rare diseases have a low number of cases, but overall there are many such disorders. “6000 to 8000 are known. Statistically, they affect a total of four to five percent of the population – in Austria that would be 400,000 people,” explains Professor Daniela Karall, founding member of the Center for Rare Diseases, how relatively rare it is.
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