What is PFAPA?
PFAPA, or Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome, is an auto-inflammatory disease. There is a complicated description, but the basic explanation is that PFAPA is an unexplained, cyclical fever, many times accompanied by mouth ulcers, joint pain, swollen lymph nodes (especially those in the neck) and sore throat. Many other noted side effects include stomach ache, headache, swollen red eyes, and irritability or emotional meltdowns. Alivia has most of these during her episodes except for stomach aches and sore throats. Fevers can get as high as 107!!! The highest we have ever observed in Alivia has been 105. This can last for several days at a time. The exact cause is not known for this disease because experts have not found a specific genetic mutation. Other periodic fever syndromes (there are as many as nine!) do have specific genetic markers. This disease has only been identified about 15 years ago, according to our specialist. Most doctors clinically diagnose it based off of symptoms. However, it is so rare that many pediatricians have never heard of it...or they let it go on for years before they notice a pattern. Many doctors believe there is a malfunction somewhere between the immune system and the inflammatory system. The immune system overreacts and triggers the inflammatory response. Hence the fevers.
How was Alivia diagnosed?
We are not sure when this truly began for her. We first noticed something was wrong in the Spring of 2013 when she had an unexplained fever of 105 for almost six days. At the time, we were worried about urinary tract infections. She would get fevers and had many doctors visits that resulted with the diagnosis of "viral infection". We ended up at Children's in the ER. This experience for her was so traumatic that to this day, she still gets hysterical when a doctor visit is mentioned...or Children's Hospital...or Children's Place (the clothing store) for that matter. It got to the point that we began noticing a pattern. Fever would spike in the afternoon around 2:00. She would act totally normal until the fever hit 102. Happened way too often to be a coincidental virus. Finally, at the beginning of this school year when it happened again, I had enough! I asked the school secretary to pull an attendance report and noticed an astonishing pattern. The fevers came exactly 8 weeks apart almost to the day. I demanded a CBC lab test...fearing the worst. Most of her lab results were normal...except elevated monocyte levels. Don't google!!! One of the pediatricians in our practice dismissed it again. "It's a virus" she told me. I got a little angry and demanded a follow up appointment with her pediatrician. I love our pediatrician. She is wonderful. However, some of the other doctors in the practice...well...need to retire! Anyhow, on November 3rd we found ourselves in the Infectious Disease clinic with a referral to see a specialist. One of the top rated doctors in the country by the way! And...BAM! We had a diagnosis. I am not sure I am completely comfortable with the diagnosis...I would really like genetic testing done to rule out some of the other periodic fever syndromes. However, genetic testing is costly and often is a nightmare to get approved through insurance companies.
It's not really that big of a deal? Is it?
I don't know...you tell me after you have had a fever of 105 for 3+ days! I can tell you that once she hits 102, she is miserable. How would you like to feel that way every 8 weeks like clockwork? She misses school. I miss work. She misses activities. She danced the last two spring dance recitals with a fever of 102. I would say that, yes, it is a big deal. It has definitely affected her quality of life.
Aren't you glad it is this? I mean, at least it is not cancer.
Yes. Somebody actually asked me this. I cannot tell you how upset it made me. Of course, you idiot, I am glad it is not cancer. Speaking as someone who has lost a loved one to pediatric cancer, I cannot even begin to tell you the pain that cancer has brought into my life. However, that does not mean that I take PFAPA lightly. See the above. Oh, and do not ever...ever say something like that to somebody. PLEASE!
How often does it occur?
Alivia's fevers were eight weeks apart, according to her absences in Kindergarten. However, since diagnosis I have taken her temperature almost every day. I have noticed that she has had an almost constant temperature of 99-100. She spiked in December, and twice in January. Some children have been known to have an episode every two weeks. Her specialist is not sure whether the 99-100 body temp is just her normal body temp or a warning sign that an episode is coming.
How is it treated?
Most doctors begin by treating with Prednisone. It does seem to bring the fever down quickly. Unfortunately, it has also been known to bring the episodes closer together and as a result increases the number of episodes. Colchicine is also used. Both have side effects of course. In Alivia's case, the Prednisone makes her absolutely crazy. She is hyper, full of rage, and lacks complete impulse control. Which is a total change from her normal personality. She said "Mommy! My body feels wild!" I have never seen anything like it. Some studies suggest a tonsillectomy and removal of the adenoids can dramatically "cure" patients. However, after much research on this, I have heard hundreds of people say that while the fevers are gone...their children continue to have feverless episodes. They still feel generally crummy and have all their other symptoms. Some have reported that after a certain period of time, the fevers have come back.
Are there long lasting effects or damage?
The short answer is no. The long answer...they really do not know. This syndrome has only been studied for about 15 years. Many children diagnosed with PFAPA are more than likely misdiagnosed due to not going through genetic testing. Other periodic fever syndromes have shown to cause amyloidosis, renal failure, vasculitis, arthritis, kidney, heart, and gastrointestinal damage! One in particular, FMV, can cause most of these complications and in 25% of cases can look virtually the same as PFAPA. Understand why I am not completely comfortable with the PFAPA diagnosis?
Will she grow out of it?
Most children seem to "grow out" of this condition in their second decade of life. Again, though, I have come across children that have endured this miserable condition for 8+ years! And some continue into adulthood.
Is she contagious?
No...this is not an infection of any sort.
Is it hereditary?
Again, the short answer is no. The truthful answer, they do not know. Many people report more than one child being diagnosed with PFAPA. Is it really PFAPA or another undiagnosed periodic fever? In our case, one of Alivia's aunts and her grandfather both had similar experiences in childhood.
Can a change in diet help?
Many people have suggested to me that changing her diet to gluten free, paleo, and other "nutritionally aware" diets will have a dramatic effect on her inflammatory system. While this seems like a wonderful fix, there is absolutely no evidence to support it. I am part of two Facebook support groups for PFAPA. One called PFAPA Child and the other called Alternative Therapy for PFAPA and other Periodic Fever syndromes. Many people have reported strict diet changes with results and many have reported strict diet changes with no results. Many people have found that using Tart Cherry Juice in liquid or pill form has been found to help. We have not tried this yet, as some people have reported the effects are wearing off. I will wait and try that if her episodes occur more frequently.
Could this be because of vaccinations?
Oh my GOD, do not get me started on this one!
How do you handle this?
Well, as I said, I check her temperature every day. I note any and all symptoms in a journal. I am currently working to get a plan at school that states that she can attend school along with specific accommodations she might need with this syndrome. When she has a fever, I ask her if she would like to go to school or she feels bad enough to stay home. She, almost always, wants to go to school. I could never ask her brother that question! Ha! Her teachers, coaches, and caregiver are all aware of her syndrome and know how to handle it. I gave each of them, and also the school clinic aide and nurse, an informational sheet from the specialist. If she spikes over 102 and starts to feel crummy I give her the Prednisone. There are times though, like last week, where one of her brothers also had a fever. At that point, we do not know whether it is PFAPA or something else. So I also take very close notes on the other two as well. It is quite the ordeal.
Does my child need a 504 plan for school?
Many doctors do recommend this. We are currently in the process of this with Alivia.
I think someone I know may have this. Where can I find information?
The American College of Rheumatology and the Systemic Autoinflammatory Disease Support groups have valuable information. Also, the two facebook groups that I mentioned above have been incredibly helpful as well.
I hope that this has given you some insight into PFAPA and what my little girl has to live with. Also, it is my hope that someone has stumbled across this while searching for information about periodic fevers.
