At first, Ruthie was misdiagnosed with leukemia and then with aplastic anemia. She initially received treatment for aplastic anemia, but her condition deteriorated over the next few months. Finally, in 1999, Ruthie was diagnosed with paroxysmal nocturnal hemoglobinuria (PNH)—a rare blood disorder in which uncontrolled activation of complement, a component of the normal immune system, leads to chronic hemolysis (destruction of the patient’s red blood cells).1,2
By then, Ruthie was married with a newborn son, and she and her husband were scared to learn that PNH was a life-threatening illness that at the time had no approved treatments. Ruthie first learned about an investigational therapy to treat PNH while it was in clinical trials and began treatment shortly after it was approved. Today, Ruthie continues to receive treatment and has the energy to be an engaged and involved mother to 3 active kids.
As her husband David notes, “In the beginning, we didn’t know how long Ruthie would be around, but today I’m excited for our children and for our future.”