“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 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. 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 “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 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.”