“Something’s not right.” That’s a terrible feeling for a parent to have about their child’s health. Carolyn and Barry experienced this type of concern about their daughter Ella’s health — and their worry lasted for seven years. Finally, at Children's Hospital of Philadelphia (CHOP), they found answers, along with a care team that went the extra mile to help them manage Ella’s rare, life-long condition.

Born three weeks early, Ella seemed perfectly healthy until after her first birthday, when she developed bad sores inside her mouth and on her lips. “They would get big and puffy,” remembers Carolyn. “We thought it might be a herpes type of thing.”

Topical medicine eased the blisters, but then over the next few years, Ella’s health followed a worrisome pattern: When she would get sick, it would take her an unusually long time to get better. A cold would last several weeks. Since celiac disease, an autoimmune disorder, ran in the family, her parents wondered if Ella could be affected as well. At CHOP’s Specialty Care Center in Princeton at Plainsboro, Ella was tested for celiac disease, but the results were negative.

At 6, Ella came down with scarlet fever, and a throat swab revealed she had strep throat despite having no symptoms at all. Her health issues never seemed to add up.

Her parents were convinced, more than ever, that something wasn’t right.

Temperature Fluctuations

When Ella was 7, a virus was going around school that caused children to experience a bad, hacking cough. Once again, as her classmates recovered, Ella couldn’t get over it. Her temperature would mysteriously fluctuate between 101 and 104 degrees.

Carolyn and Barry repeatedly turned to their pediatrician, who was uncertain how to best address their concerns. “We didn’t feel the pediatrician was thorough enough,” Carolyn says diplomatically. As Ella seemed to be getting worse one Saturday morning, they called the pediatrician asking if he’d see her, but he insisted on Ella first getting a chest X-ray. When Ella threw up a milkshake and her temperature reached 105 degrees, Carolyn and Barry decided to head to the emergency room near their New Jersey home. It was just in time for Ella.

The Beginning of Septic Shock

At the ER, Ella’s vital signs were alarming: Her blood pressure was dangerously low at 53/23, and her heart rate was very high at 189. She was going into septic shock, a potentially fatal infection throughout her body. She was admitted to the intensive care unit.

“She had to get through 96 hours just to know she’d live,” says Carolyn, still emotional at the memory. “They didn’t know what they were dealing with.” For two weeks, Carolyn and Barry alternated staying on the floor with their daughter, who then remarkably regained consciousness and experienced no brain damage from the infection. Ella remained hospitalized for a few more weeks and underwent physical therapy to counter the effects of being bedridden for so long.

Eventually Ella returned to school, seemingly fine, but Carolyn and Barry were traumatized by the ordeal. A new pediatrician was found. When Ella got yet another virus, “We kept taking her to the new pediatrician because I was so nervous,” says Carolyn. At one visit, Ella underwent routine bloodwork, but the results were anything but routine. “They said, ‘We need to do it again, because her white blood count is so low, it must be wrong.’” The tests were performed again. “All the numbers were off,” says Carolyn. This would become par for the course: “The numbers were never the same, but never where they were supposed to be.”

Not Enough Infection Fighters

More About Cyclic Neutropenia

The family made an appointment at CHOP’s Division of Infectious Diseases, and in the meantime, they went to see a doctor at the local hospital who happened to be a former CHOP hematologist. “She was the first one who suspected neutropenia,” says Carolyn. A referral to the Pediatric Comprehensive Bone Marrow Failure Center at CHOP followed, and tests revealed Ella had cyclic neutropenia, a rare blood disorder characterized by recurrent episodes of abnormally low levels of neutrophils, a type of white blood cell that is critical to fighting off infections.

Under the care of the Bone Marrow Failure Center, Ella was started on injections that stimulate her bone marrow to increase the production of white blood cells. When the family’s insurance company refused to cover the cost of the injections, Beverly Paul, RN, helped sort out the problem. She’s just one of several members of Ella’s care team that the family praises.

Carolyn also makes note of Peter Kurre, MD, the Bone Marrow Failure Center’s director: “He’s so good with Ella. And he really listens to us.” During difficult procedures, such as inserting an IV line, “The child life staff is so helpful. They can distract her in a way I can’t.”

For a girl who hates needles, Ella, now 9, faces a future of injections three times a week. “My dream,” says Carolyn, “would be to help others. These shots are so traumatic. Children being treated for cancer have to get them every day. It would be great to develop something like a patch.”

With her strength and her appetite back, Ella is returning to her favorite activities. She loves to dance, particularly hip-hop and jazz, and she enjoys basketball and playing the piano. “She has to be careful, but I don’t want her to feel different,” says Carolyn. Incidentally, the family is moving to Pennsylvania this year, where they will be only 20 minutes away from a CHOP pediatrician. Carolyn concludes: