The dark urine began when she was a child. No one paid much attention to it until, at age 40, she had to undergo hip and knee replacements in both legs because of severe arthritis that did not fit her age.
At 65, she arrived at a hospital in Austria for something different: she was short of breath when walking. Doctors performed an echocardiogram and catheterization and found severe aortic stenosis; her heart valve was barely allowing blood to pass through. She underwent open-heart surgery to replace it.
That was when something no one expected appeared. Upon opening the aorta, surgeons saw intense black pigmentation and calcified tissue of the same dark color covering the valve. Microscopy confirmed deposits of a brown pigment that had accumulated throughout her life: she had alkaptonuria, a genetic disease so rare that it affects only 1 in every 250,000 people, and that had been staining her tissues from the inside since childhood without her knowing it. Three years after the surgery, she remains free of cardiac symptoms.