From the outside, 8-year-old Cole appears to be a typical kid: he’s energetic, artistic and obsessed with Philadelphia team mascots. He loves sports, plays with his two brothers and approaches life with a quiet bravery that has become second nature.

But from birth, Cole has lived with a rare and serious condition that shapes every part of his life: isolated congenital asplenia (ICA), a disorder in which a child is born without a spleen. Because the spleen plays a critical role in fighting infection, children with ICA face serious lifelong risk from illnesses most people take for granted. 

ICA is extremely rare, and its implications are serious. Without a spleen, Cole’s immune system requires constant support, careful monitoring and a proactive medical plan to keep him safe. That plan – led by CHOP’s Division of Allergy and Immunology – quickly became a central part of Cole’s daily life.

Infections from an early age

For Cole’s parents, Kevin and Leanne, the road to his diagnosis was not straightforward. Cole was born in late 2017; by spring 2018, he was developing high fevers that wouldn’t break. Cole was admitted to his local hospital during one such fever spike, and became lethargic enough to alarm his doctors, who arranged for Cole to travel by ambulance to CHOP in the middle of the night. CHOP doctors tested him for meningitis; during the procedure Cole developed seizures and was transferred to the Pediatric Intensive Care Unit (PICU).

Tests confirmed bacterial meningitis, a life-threatening infection. Cole was hospitalized for more than a week, then sent home with a peripherally inserted central catheter (PICC) line to continue IV antibiotics. But his recovery raised more questions than answers. His white blood cell count was dangerously elevated, and fevers continued throughout the summer.

“We followed up with hematology, immunology, neurology – pretty much everyone,” Kevin says. 

The cause discovered 

In August 2018, Cole spiked a fever of 104 degrees F during a local fair and was rushed back to CHOP, where doctors diagnosed pneumococcal sepsis. During that PICU stay, Lori Handy, MD, MSCE, attending physician in the Division of Infectious Diseases, and Neil D. Romberg, MD, attending physician in Immunology, asked the question no one had asked before: Did Cole have a spleen? 

An ultrasound provided the answer. He did not.

“At that point, we were begging someone to think outside the box,” Leanne says. “And these doctors certainly were the MVPs of our situation.”

The discovery explained everything: the meningitis, the sepsis, the relentless infections. Without a spleen, an organ essential to fighting certain bacteria, Cole’s body had been defenseless.

Once Cole was diagnosed, his CHOP team moved quickly. Immunology took the lead, as attending physician Soma Jyonouchi, MD, devised a comprehensive plan that included daily preventive antibiotics, an emergency fever protocol and, eventually, intravenous immunoglobulin (IVIG) therapy. They also accelerated Cole’s vaccine schedule, to establish a baseline immunity he lacked.

“For a while, it was just trying to put out fires,” Kevin says. “Until they could figure out exactly what would work.”

Moving beyond the COVID “bubble”

In IVIG therapy, antibodies collected from healthy donors are administered into a vein to support a patient’s weakened immune system and help fight infections. Cole began his IVIG infusions in February 2020 at age two, just as the world shut down for COVID. “We always joke that to keep Cole completely safe, we’d have to put him in a bubble,” Kevin says. “And when COVID happened, the world kind of put all of us in a bubble.” 

CHOP’s care extended to Cole’s entire family to make sure his siblings didn’t share the condition. Drs. Romberg and Handy had initially worked with the Roberts Individualized Medical Genetics Center (IMGC) to determine that Cole’s asplenia was caused by an ultra-rare inherited genetic variant in the RPSA gene. Leanne remembers, “When our youngest son was born, we didn’t leave the hospital until we knew he had a spleen.” 

Now Cole is 8. Every four weeks, he spends hours in CHOP’s Day Medicine unit, getting his IVIG therapy with no complaints. “He’s strong,” Leanne says. “I see a fire in him.” In between treatments he goes to school, plays baseball and basketball, creates art and cheers for his favorite teams. With this supportive care plan, Dr. Jyonouchi is cautiously optimistic about Cole’s long-term prognosis. 

“If you didn’t know what was wrong with Cole, you wouldn’t be able to tell,” Kevin says. “That’s an amazing tribute to how much work the people at CHOP have put in place to support him.” Grateful for that care, Cole and his family now give back through Cole’s Crew, a fundraising team they created for the I ❤️ CHOP Run, Walk & Virtual Challenge. 

Leanne’s message to other parents is simple: “Don’t give up. Keep asking questions. Never stop advocating, because somebody will find the answer.”