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The freckle-like spots that Jami Cox noticed on her six-week-old son’s skin in 2002 had a name that sounded like a dessert: café au lait. But the disease that was causing the spots, neurofibromatosis (NF), was no treat.
A genetic disorder, NF causes benign tumors to grow in different parts of the body associated with the nervous system. In 2005, Evyn was referred to neurologists at Children’s Hospital of Pittsburgh of UPMC for neurofibromatosis treatment. His symptoms included irregular blood pressure, which was treated through medication.
In Evyn’s case, the tumors were growing in his renal arteries; a symptom that was hidden until November 2007, when he checked in for his annual neurology appointment. Doctors discovered that Evyn’s blood pressure had become dangerously high. “It was actually a life-threatening case of hypertension,” recalls Dr. Mike Moritz, clinical director of pediatric nephrology at Children’s.
An emergency angiogram of Evyn’s circulatory system revealed that the arteries that supply blood to Evyn’s kidneys had become dangerously blocked by tumors and his kidneys were shrinking from lack of blood flow. At five years old, the NF tumors caused by Evyn’s disease were threatening his kidneys.
Reducing the hypertension and restoring the blood supply was critical to saving Evyn’s kidneys, according to Dr. Moritz, and in 2008, Evyn was scheduled for kidney autotransplant surgery. In two separate operations (one for each kidney), Evyn’s kidneys were removed and the renal arteries were then reattached at a point where circulation was unobstructed by NF tumors. With circulation restored, Evyn’s kidneys began to grow again.
“I was unprepared for the surgery,” Jami remembers. “But Dr. Moritz was always available. He listened to every question and idea I had, including my assessments of Evyn’s medication.”
Evyn’s little brother Niko was five months old at the time, and Jami had her hands full. They got through the two surgeries and intensive care stays through lots of family support. “And Evyn was strong, for a five-year-old,” Jami says. “He was probably the toughest one of all of us.”
Today, Evyn is a healthy middle schooler interested in math and Penguins hockey who hunts on the weekends in the Pennsylvania woods with granddad. Though neurofibromatosis has no cure, Evyn is relatively symptom free. His life ahead involves routine blood pressure management and monitoring for the return of NF tumors. “Other than that, NF is no longer part of his daily life,” says Jami.
Evyn, tough as ever, concurs. “I barely even know it’s there.”
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
Children’s Hospital of Pittsburgh of UPMC
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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