Mystery diagnosis brings family to UNC Children’s

Claire's troubling and recurrent symptoms led her family to UNC, where pediatric rheumatologists identified a rare autoimmune disease.

Mystery diagnosis brings family to UNC Children’s click to enlarge Claire is cared for by a team of specialists, which includes pediatric rheumatologist, Dr. Eveline Wu.

Claire has a shy smile and playful disposition which reveals itself in activities like hiding behind the door when someone enters the room. Math and reading are among her favorite school subjects, and after school, she likes to study violin and piano—especially piano, a fact that pleases her mother, Su, who plays the instrument herself. Family life includes an older sister, Elly, and an annual trip to her parents’ native Korea to visit family and ski.

Claire led the life of a “normal” schoolgirl until she developed a mystery illness in May of 2013. Symptoms, which included a high fever, rash, and dangerous decreases in her hemoglobin and white blood cell and platelet counts, led her to be admitted to a community hospital in Raleigh, N.C. Doctors finally labeled the culprit infectious mononucleosis caused by Epstein-Barr virus, and her symptoms slowly improved.

When daily fevers and the rash returned three months later, the complex nature of Claire’s illness convinced her parents she needed more specialized care, and they brought her to UNC Children’s emergency department.

“She had a very high fever, 105,” recalls her mother, Su. “We were very worried, but the care was wonderful and put us at ease.”

Claire was admitted to N.C. Children’s Hospital. Tests revealed decreases in her blood counts again, as well as fluid in her lungs and around her heart. Leonard Stein, MD, and Eveline Wu, MD, both experts in pediatric rheumatic and systemic autoimmune disorders, were added to Claire’ care team.

The rheumatologists soon determined that Claire suffers from a condition called mixed connective tissue disease, an “overlap syndrome” in which a patient presents with symptoms of two or more systemic autoimmune diseases.

“Mixed connective tissue disease is one of the less common disorders we see in the pediatric rheumatology clinic,” explains Dr. Wu. “Children can show signs of a combination of major childhood rheumatic disorders. The most common features are hand swelling, arthritis, Raynaud’s phenomenon [color changes of the hand and feet], and myositis [inflammation of the muscles].”

Claire was ultimately treated with intravenous corticosteroids and discharged with a three-month course of daily oral corticosteroids. Although her condition improved, Claire still experiences chronic decreases in her white blood cell count and elevations in her liver function tests, which eventually led to a liver biopsy this past May. Like many rheumatic disorders, Claire’s condition is marked by periods of flare and remission.

“Corticosteroids are effective anti-inflammatory agents, but their numerous side effects limit their long-term use,” says Dr. Wu. “Better options exist that can be tailored to a patient’s disease manifestations.”

Dr. Wu now leads Claire’s care, continually pursuing the best course of treatment for her young patient. She developed an instant rapport with Claire’s family, a fact that inspires confidence and relief in her parents.

“We are happy to have found Dr. Wu,” says Su. “She is the perfect doctor for us.”

The family’s positive experience with at N.C. Children’s Hospital inspired Claire’s father, Peter, CEO of Kioti Tractor in Wendell, N.C., to sponsor a silent auction at two industry trade shows earlier this year. Participants bid on a special edition pink Kioti Mechron 2200 utility vehicles, raising a combined total of more than $25,000 to benefit UNC Children’s.

“Kioti Tractor is proud to support our communities and charitable organizations with our Pink Tractor and Pink UTV fundraising campaigns,” he says. “We remain committed to the continuation of our philanthropic efforts.”

Claire has a commitment of her own: she will require lifelong care to manage her condition—but this doesn’t cloud her view of the future.

“I want to be an actor or a doctor,” she says, flashing that shy smile. “Everyone says I’m so good in math, I should be a doctor. But being an actor would be fun.”

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