Living with Periodic Fever Syndrome

Did your mind spit out a question mark when you read the words ‘Periodic Fever Syndrome?’ You are far from being alone. Most doctors haven’t even heard of it. Can you imagine your child having a disease that no doctor in your state knows about? How about even in your country? My son has Periodic Fever Syndrome (PFS) and was lucky enough to get both a diagnosis and treatment. Many more children and adults aren’t so lucky.

My son was around 18 months old when he started getting mysterious fevers. Crazy, emergency-room-worthy, up-all-night-pacing, high fevers. His pediatrician insisted they were just viruses. Kids get sick all the time, right? But my son wasn’t in daycare, where all of the germs are born via magical snot fairies. He also had no other symptoms. It didn’t add up. So I started keeping track of everything and taking copious notes. When the fevers started, how long they lasted, any and all observations. It turned out that they came every three and a half weeks, almost exactly, and they lasted almost always five days, peaking as high as 106 degrees. He also had stomachaches and vomiting. As time went on, he started having mouth ulcers and leg pain as well. The pediatrician still had no ideas, so I turned to the internet. Not to pat myself on the back, but I’m a pretty prolific Googler (ask my husband), and almost immediately discovered Periodic Fever Syndrome.

The NIH defines PFS as “a wide group of diseases characterized by recurrent attacks of apparently unprovoked inflammation and are thus considered among the so-called autoinflammatory diseases.” What this means is that a part or several parts of the body become inflamed for no apparent reason on a cycle. The inflammation causes the body to fever, which is the bodys way of fighting infection. But in this case, there is no infection. There are several categories of PFS, depending on which organs become inflamed, symptoms, and gene mutation: Familial Mediterranean Fever (FMF), Mevalonate Kinase Deficiency (MKD), Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS), Familial Cold Auto-inflammatory Syndromes (FCAS), and Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis (PFAPA), which is the most common Periodic Fever Syndrome, and also what my son has. Currently, a genetic test has been created to narrow down the genetic mutation associated with each PFS, but due to some clinical overlap, it can be tough to diagnose. PFS can come on at any age and can also dissipate on it’s own at any point. Many patients with PFS choose to treat their illness with steroids, most notably Prednisone, and Colchicine, a gout medication, administered at the start of each fever, ending it immediately. This treatment is also known to bring on fevers, or ‘flares,’ more often, while others experience no changes to their illness.

We immediately made an appointment with a rheumatologist, who was aware of PFS, but had never seen or treated a patient with it. We soon found our way to Rady Children’s Hospital in San Diego, who’s Fever Clinic has seen hundreds of children with PFS. PFAPA is characterized by inflammation of the tonsils and/or adenoids. My son, just shy of his fourth birthday, having spent the majority of his young life sick in bed, had his tonsils removed. He hasn’t had even one fever since. That said, he isn’t cured. This disease may follow him the rest of him life. He sometimes has what we on the PFAPA Facebook groups call a ‘feverless flare.’ Mood swings, high emotions, neediness, leg pains, and mouth ulcers are just some the many issues we deal with, on top of the already tumultuous Toddler issues. We still treat him with vitamin D3 and tart cherry juice, two supplements well known to fight inflammation. I’m still active on PFAPA support groups online, helping those who have only just heard of PFS, and gleaning all I can from others dealing with surgery aftermath. No one has ever and will ever ask for a sick child, and for those like my son who were lucky enough to end the fevers, and those whose with illnesses that aren’t so easily cured, the sense of relief that comes with finally, FINALLY getting an accurate diagnosis is immeasurable.

Watching your child suffer is awful, any parent can tell you that. But not knowing why or what to do about it is torture. Years of doctors’ appointments, emergency room visits, and hospital stays can break you down. But having a community of patients and families sharing their experiences and supporting each other can save you. I know this from experience.