Today, 5-year-old Luke loves to be outside. Riding his scooter, swimming at the beach, and playing sports are some of his favorite things to do. But as a baby, he was diagnosed with a primary immunodeficiency that left him vulnerable to infection, and made outdoor play impossible.
When Luke was 3 months old, his parents were frightened when they noticed blood in his diaper. A specialist near their home in Westchester County, NY performed a colonoscopy and found what he thought were vascular lesions. But he wasn’t confident in the diagnosis and the most effective treatment for Luke, so he referred the family to Children’s Hospital of Philadelphia (CHOP).
Luke was examined by Petar Mamula, MD, a pediatric Gastroenterologist with the Center for Pediatric Inflammatory Bowel Disease (IBD) and Director of the Kohl's GI Nutrition and Diagnostic Center. Another colonoscopy and biopsies of Luke’s tissue came back with inconclusive results. But it was clear that something was wrong with the baby. In addition to blood in his stool, he was getting frequent fevers and had developed an open sore on his ankle. Dr. Mamula didn’t think the symptoms fit the diagnosis of vascular lesions and suspected something rarer, so he expanded the diagnostic team to include other specialists at CHOP and made plans with the family to bring Luke back for additional tests.
Before Luke’s return visit to CHOP, he got very sick. When he was 9 months old, Luke developed a high fever and diarrhea, and his abdomen became swollen with fluid. His parents brought him to the emergency room near their home.
Doctors drained the fluid from his stomach and gave him antibiotics. But Luke’s condition was rapidly declining — his blood pressure was dropping, and he developed pneumonia. He was transferred by ambulance to CHOP.
Discovering a diagnosis
Luke was admitted under Dr. Mamula’s care, and he worked with a team of specialists in immunology and infectious disease to figure out what was making Luke sick. Together, the medical team discovered the problem.
Luke had chronic granulomatous disease (CGD), a rare primary immunodeficiency that impairs the body’s ability to fight bacterial and fungal infections, but also causes inflammatory bowel disease (IBD). People with CGD produce ineffective neutrophils, a type of white blood cell. When exposed to certain types of bacteria and fungus, the neutrophils are unable to keep the infecting agents from multiplying and causing sickness, sores or inflammation. Only 20 new cases of CGD are diagnosed each year in the U.S.
Dr. Mamula, together with clinical immunologists Kathleen Sullivan, MD, Chief of the Division of Allergy and Immunology and Jennifer Heimall, MD, Co-founder of the Joint Bone Marrow Transplant–Immunology Clinic, explained the diagnosis to Luke’s parents. It was discovered that exposure to hay, which commonly grows a fungus called Aspergillus, caused Luke’s decline. In the two days before his trip to the emergency room, Luke had been to a pumpkin farm and a birthday party in a stable.
The medical team recommended a bone marrow transplant to treat Luke’s CGD by replacing the cells that develop into immune cells with new, healthy cells that would allow him to have effective infection-fighting neutrophils. And more immediately, he would be treated for a clot in his leg, falling blood pressure, pneumonia, bradycardia, hypothermia, bacterial peritonitis and norovirus – all stemming from his CGD. Luke would spend 20 days at CHOP being treated for all of his illnesses.
Coordinated approach to care
“We saw such a difference at CHOP,” says Luke’s mother, Nicole.
“their level of knowledge, the way the doctors talked with each other, the way the staff coordinated care. there were so many different pieces to luke's medical problems that he needed that kind of coordination. we were relieved to feel that luke was in good hands.”
Luke was given medication to fight infections, and his parents were given instructions on how to keep him from exposure to the types of fungus and bacteria that could make him sick. In addition to hay, patients with CGD need to avoid mulch, dirt and standing water because of the risk of fungal and bacterial infections.
An unrelated bone marrow donor was identified, as none of his family members were a match, and Luke received the transplant at CHOP a few months later. The transplant was managed by Nancy J. Bunin, MD, Director of the Blood and Marrow Transplant (BMT) Program. The graft appeared to be successful, and he was able to leave the hospital two months later. Nicole and Luke stayed in Philadelphia for an additional month for monitoring and follow-up care, and then were able to go home to NY.
Luke’s health recovered, but over time the joint bone marrow transplant and immunology team became concerned that he was rejecting his graft. He was tested periodically to measure the percentage of grafted cells in his bloodstream, and the number slowly dropped. With certain restrictions and with regular doses of antifungal and antibacterial medication, he could play outside.
As he grew through his toddler and preschool years, Luke developed into a fun, active and caring little boy. He came to love playing sports. When he was big enough, he liked to go to a local amusement park and ride the highest roller coaster with his father. When his baby sister was born, he became a loving older brother.
When Luke turned 5, his medical team decided he needed another transplant. But this time, Luke had a perfect donor match: his baby sister. In March 2017, he received his second bone marrow transplant at CHOP. Transplant outcomes are often better with the use of a matched sibling donor, and the outlook for Luke is good.
Luke still receives coordinated care from a team of medical specialists led by Dr. Heimall and Dr. Bunin. For some time, he’ll be coming back to CHOP regularly for follow-up care. But between those visits, his life is expected to be that of a normal rambunctious, fun-loving boy.
“We rave about Children’s Hospital,” says Nicole.
“the level of care, the attentiveness. they are on top of everything. we know the doctors and the doctors know luke. and the nurses are just so nice. i feel like i can ask any question and they will answer it, even if i've asked 16 times before. the way they talk to the kids, you can feel they care about you. wherever we go, we talk about this hospital.”