“Faith, hope and endurance are imperative to living a life full of possibilities with PNH,” says Emma Pritchett, who has lived with paroxysmal nocturnal hemoglobinuria paroxysmal nocturnal hemoglobinuria: (par-uk-SIZ-muhl nok-TURN-uhl hee-muh-gloe-buh-NYOOR-ee-uh) A rare and serious blood disease that causes red blood cells to break apart. Paroxysmal means sudden and irregular. Nocturnal means at night. Hemoglobinuria means hemoglobin in the urine. Hemoglobin is the red part of red blood cells. A… for 20 years. “The diagnosis was a shock because the disease is so rare.”
Emma and her husband Dennis, a scheduling manager for Carrier Transicold United Technologies, live in Watkinsville, Georgia. They were married in 1993 and were eager to start their family. They were elated when Emma became pregnant but soon noticed that she had become dangerously anemic. At 20 weeks, with a blood count as low as seven, she consulted with her doctor and was then referred to a hematologist hematologist: (hee-muh-TOL-uh-jist) A doctor who specializes in treating blood diseases and disorders of blood producing organs. . They were all baffled.
Six weeks before her delivery date, Emma was put on bed-rest but soon her blood pressure shot up. She ended up going to hospital, in labor. Their son was born five and a half weeks early and Emma was in distress, her blood count plummeting and her liver and kidneys started shutting down. “They almost lost me,” she said. Calling in a specialist, Emma received blood transfusions blood transfusions: A blood transfusion is a safe and common procedure. Most people who have a bone marrow failure disease like aplastic anemia, MDS or PNH will receive at least one blood transfusion. When you receive a blood transfusion, parts of blood from a donor are put into your bloodstream. This can help some… “to jump-start my system,” she said. “It was a very scary week and half in the hospital.”
Emma returned to her hematologist just one week later. “He had never seen a patient with the disease but finally considered a diagnosis of PNH,” Emma said. Together, they found a doctor specializing in rare bone marrow failure bone marrow failure: A condition that occurs when the bone marrow stops making enough healthy blood cells. The most common of these rare diseases are aplastic anemia, myelodysplastic syndromes (MDS) and paroxysmal nocturnal hemoglobinuria (PNH). Bone marrow failure can be acquired (begin any time in life) or can be… diseases at Duke University and made an appointment. “We read all we could get our hands on but I was still sick. I had a history of clots was having difficulty breathing. And, I had just had a baby.”
Now Emma now visits Duke University Hospital annually and also regularly sees her local hematologist. “Soliris ® (eculizumab) has been a life-changer,” she said. “Things are so much better compared to life as it was 15 years ago.”
“I’ve researched this disease for 20 years and I’ve learned just how risky childbirth can be. That’s why we call our son our ‘miracle baby.’ He’s a delight to us. He’s healthy and our biggest blessing,” said Emma of their son Andrew, 19, who is a freshman at Georgia Tech, studying computer science.
“You must hold onto hope, and live life as best you can with this disease,” she said. “I have faith. Tomorrow may be filled with blessings and promises.”