Joey's symptoms began small, almost flu-like: a low-grade fever, cough and congestion. But his condition quickly deteriorated: he was tired all the time, had continued back pain and swelling throughout his body. Something was very wrong. His family turned to Children's Hospital of Philadelphia (CHOP) for help.
It was October of 2018 when 13-year-old Joey's mysterious symptoms first appeared. His family brought him to Doylestown Hospital, where doctors were puzzled by his condition – initially suspecting a sinus infection or kidney issue. They recommended transferring Joey to CHOP for a more detailed medical work-up.
When Joey arrived, CHOP doctors quickly discovered the teen's body was in extreme distress. Initial testing showed he had elevated inflammatory markers, leading doctors to believe he had a viral infection.
"His inflammation markers were off the chart," explains his mom Laura.
“All his lab work – blood and urine tests – showed something wasn't right but it took time for the doctors to determine exactly what was causing his symptoms.”
His condition was so rare, even CHOP doctors hadn't seen a case in 3 years.
A rare diagnosis
Joey's case was referred to a multidisciplinary team from Infectious Disease, Rheumatology and Nephrology who reviewed his symptoms and ordered specialized tests to rule out potential causes. A computed tomography angiography (CTA) of his chest, abdomen and pelvis revealed inflammation in his lymph nodes, enlargement of his liver and spleen, excess fluid in his lungs and several other organs, but no identifiable abscesses.
Biopsies of Joey's bone marrow and left axillary lymph node were more revealing and indicated he may have idiopathic Multicentric Castleman's disease (iMCD), a rare disorder than involves an overgrowth of cells in the body's lymph nodes, specific microscopic changes to the lymph nodes, and a broad range of other symptoms.
Lehn Weaver, MD, PhD, a CHOP attending physician from the Division of Rheumatology, told Joey's family about the findings and introduced them to team members from the Immune Dysregulation Program, who would work to confirm the rare diagnosis and determine the best course for treatment.
Anytime idiopathic multicentric Castleman's disease (iMCD) is suspected, the challenge is that the disorder can mimic many other conditions that affect the immune system – and treatment for each varies. The Immune Dysregulation team's top priority was confirming Joey's diagnosis. To do this, a multidisciplinary team of specialists worked together to perform additional tests to develop a state-of-the-art immunologic profile for Joey.
Then, armed with knowledge about his specific immune dysregulation, clinicians collaborated to develop an individualized treatment plan that included immunomodulatory therapies (to treat inflammation) and prophylactic antibiotics (to prevent infection).
Joey's family quickly learned that iMCD can be devastating and unpredictable. Finding the right treatment – and adjusting it when necessary – would be crucial to his long-term health.
The goal of treatment is to keep the body's lymph nodes working properly – not in overdrive. During Joey's initial hospital stay, doctors from the Immune Dysregulation Program prescribed a variety of medications to target the inflammation and B cells.
Using trial and error, Joey's medical team found a medication combo that seemed to work for him: tocilizumab, to target part of the immune system, and sirolimus, an anti-rejection medication. But after Joey's fourth dose of tocilizumab, he had an allergic reaction and needed to switch to siltuximab, a different anti-inflammatory medication.
Eventually, the team at CHOP found a drug combination that seemed to control his symptoms. Joey was discharged from the hospital and returned home to his parents and three siblings.
Joey was home less than a week before he complained of headaches, reported seeing a "red dot," and began convulsing in a seizure.
His family quickly called an ambulance. At the local hospital, clinicians gave Joey anti-seizure medications and transferred him to CHOP, where he was sent to the intensive care unit, sedated and intubated to allow him to rest while doctors tried to understand this troubling new set of symptoms.
After a thorough examination, several new tests and collaboration with the Immune Dysregulation team, neurologists diagnosed Joey with posterior reversible encephalopathy syndrome (PRES), an uncommon neurological condition that causes a rapid onset of symptoms including headaches, seizures, visual disturbances and altered consciousness. The causes of PRES are unknown. Again, Joey remain hospitalized while his medication was adjusted and symptoms subsided.
Once home, Joey remained weak for months after his harrowing medical ordeal. He received physical and occupational therapy at CHOP, and educational support from the Hospital School Program while he regained his strength. In January 2019, he returned to his local middle school.
Since then, Joey has thrived in school and at home. Now 15, he's in 10th grade. In his free time, Joey enjoys fishing, hanging out with friends, playing video games and watching professional sports on TV.
Joey's disease continues to impact his daily life: He must wake early each day to take his medications and remain vigilant at all times to avoid infections.
Two years after diagnosis, Joey continues to be seen by specialists from the Immune Dysregulation Program at CHOP. He has big plans for his future: "I want to be rich, remain close with my family and become a doctor one day – maybe at CHOP."