BEFORE THE PANDEMIC, it seemed like our young son was sick quite often. But kids get sick — especially when they go to preschool, right? We had the school nurse’s number saved in our cellphones. When we would get that dreaded call that our son had spiked a fever, we could predict fairly well what the next 48 hours would bring: fever, lethargy, loss of appetite, and occasionally flu-like symptoms. Sometimes we would take him to the pediatrician. Getting a virus or two a month can be normal for young children, we were told. Sometimes, there was suspicion of a bacterial infection and he would be prescribed antibiotics.
Then the pandemic began and a state of emergency was declared in Massachusetts in March 2020. Like many families in the Greater Boston area, we were experiencing the mayhem of the early pandemic, but we also were extremely fortunate to be able to work from home. Both of our children were home too, including our son who was in virtual preschool. The four of us became physically isolated from the world.
That May, our son came down with a fever, a week before his fourth birthday. He had been sick at least once since the onset of the pandemic, but this time was different — we’d been isolating now for nearly two months. Besides the occasional grocery run, we had not seen anyone in months. We wore masks even when walking around our neighborhood.
A perceptive family member sent us an article on periodic fever syndromes, a group of auto-inflammatory diseases that cause recurrent fevers, typically in young children. We started piecing together the dates of our son’s bouts of illness from texts and e-mails. As we entered the dates of our son’s sickness into a spreadsheet, the pattern was striking: He had been sick eight times in the previous six months — about once every 25 days.
We consulted our pediatrician, who said that indeed it did sound like a condition called PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis) syndrome. She referred us to a pediatric rheumatologist at Boston Children’s Hospital who had expertise in periodic fevers. The rheumatologist agreed that it seemed a likely diagnosis based on the clinical history and prescribed a steroid that, if effective, would help confirm the diagnosis and treat the symptomatic fevers. Our son’s fevers responded to the steroid and he was diagnosed with PFAPA.
Very few people in our community had heard of the disease. But we found online resources, including a large group of parents from around the world seeking diagnosis and treatment for PFAPA and other periodic fever syndromes. Some of these parents had been working for years to find a pediatrician or infectious disease physician who would take them seriously. It seemed our relatively speedy path to diagnosis was not typical. It was likely a reflection of the great medical expertise in the Boston area, as well as the clear evidence gathered during pandemic isolation.
The steroid treatment, while effective at reducing the fevers, brought challenging side effects such as mood swings and shortened time between fever episodes. We were referred to an ear, nose, and throat surgeon at Boston Children’s Hospital whose family has personal experience with the disease and who has published research showing that removing the tonsils and adenoids is more than 97 percent effective at eliminating recurrent fevers in PFAPA patients. After waiting months to see if our son’s pattern might subside on its own, we scheduled his adenotonsillectomy for just after his fifth birthday. It has been 10 months since the procedure, and he has not had a fever episode since. He’s back in school, and we are hopeful for his continued good health.
It’s hard to know for sure if we would have received this diagnosis if not for our family’s isolation due to COVID-19. According to recent studies — including one in the United States and one in the United Kingdom — there has been an increase in PFAPA diagnoses during the pandemic. The studies note that this is likely because families and doctors were able to recognize patterns of periodic fevers more quickly than in previous years, when these symptoms would be attributed to other infectious illnesses.
Despite a moderate amount of scientific literature, there is still much to learn about PFAPA. There is no clear genetic basis for the disorder and it is unclear even how prevalent it is, though recent studies suggest PFAPA may be more common than previously thought. Once the illness was suspected in our son, the Boston area medical community was able to diagnose, treat, and potentially resolve the disorder within a year.
The story of the pandemic has largely been one of great fear, hardship, and loss. We see our family’s medical journey as a small silver lining, and one that we hope helps others.
Daniel Lieber, PhD, is a scientist working in biotechnology, and Rachel Lieber works in health care communications, both in the Boston area. Send comments to firstname.lastname@example.org.