In the early morning hospital dimness, a man awoke to see a platoon of doctors surrounding his 14-year-old daughter’s bed. He could see her sitting up, mouth open, a glint of sweat on her cheeks and forehead. He could hear her rapid, ragged breaths, almost as if she had just run a race. She looked over to him. She was scared. And suddenly, so was he.
“We have to take her to the Intensive Care Unit,” a doctor said. Equipment there could help her breathe more easily. As the nurses packed up IVs and hooked up portable tanks of oxygen, the girl’s father and mother gathered their books and bags. His wife seemed much calmer than he felt. Until that moment, he had not believed his daughter was that sick. The doctor diagnosed her with a rare autoimmune disease known as granulomatosis with polyangiitis (GPA).
Now, five years later, the girl is in college and doing well. She is active and while she gave up playing soccer after her illness, she has since recovered much of her lung function. And, she still visits her specialists at Goryeb Children’s Hospital.
The series of moments that fell into place for this particular patient: The diligent family pediatrician who follows the patient, carefully monitoring symptoms and progress; access to a hospital like Goryeb Children’s Hospital that can care for children like this patient; a pediatric subspecialist who recognized the connection between seemingly unrelated symptoms and solved the medical mystery; and the many people who cared for the patient and her family during her illness, all made a successful outcome possible.
“This case highlights the complexity of care that Goryeb Children’s Hospital is equipped to handle,” says Simona Nativ, MD, the patient’s rheumatologist. Dr. Nativ remembers determining the GPA diagnosis and credits the family’s pediatrician, Suhaib Nashi, MD, who was thorough and persistent as the family consulted doctor after doctor, struggling to find the cause of their daughter’s symptoms. “It was Dr. Nashi who specifically requested a rheumatology consult,” Dr. Nativ recalls.
Pediatric patients only account for about 5 to 10 percent of cases diagnosed with this already rare condition. Long after the patient was discharged, her impact was felt at Goryeb. Many nurses, medical students and physicians learned valuable lessons about diagnosis and treatment of rare conditions in children from this case.
And roughly five years later, this patient is designing her own road map for success as she grows into adulthood and continues to inspire the medical professionals who saved her life.