PFAPA – Our Experience With A Rare Disease

In honor of Rare Disease Day on February 28th, I’m sharing our experience with a rare disease. Our son had PFAPA which is a rare disease characterized by frequent fevers.

At the age of 3, we discovered our son had PFAPA. What is PFAPA? It stands for Periodic Fever, Aphthous Stomatitis, Pharyngitis Cervical Adenitis Syndrome and consists of recurrent episodes of fever, sore throat, mouth sours and swelling of the glands in the neck. Despite being somewhat common, there is hardly any information available about PFAPA.

Our Story:

Starting at about a year old, it seemed like my son was ALWAYS sick. He was going to daycare full-time and since we were new parents we thought he was normal. Whenever he would get sick, we’d take him to the doctor (like new parents do!) and he was usually diagnosed with some sort of virus and occasionally hand-foot-mouth.

Around the age of 2, we started really noticing how often he got sick. The doctors usually just told us this was normal for a kid in daycare and that he would grow out of it.

By age 3 he was still getting sick all the time. It was beginning to really wear us down as parents! One day, when picking him up early from daycare, out of frustration, I said to one of the workers “He is sick all the time! Do all kids get sick this often!!”. She paused for a moment and said she thought he actually did get sick more than normal. This particular worker had worked with A LOT of kids in her life, so she knew what she was talking about! That was the first time it occurred to me that something might actually be wrong with my son. That maybe he DID get sick more than normal and that there could be something else going on.

A Typical Episode:

What did “sick” look like? It was always the same.

• Day Before: He would be grouchy, cry easily and stop eating. He’d often also complain of his legs hurting.
• Night Before: Restless night, but no fever or other symptoms.
• Day 1: He would wake up still grouchy and his eyes would have a “sick” look. I can’t describe it, but I can look at pictures and tell when he was having an episode. Around noon he would go from no fever to 102 and start talking funny like there was something in his throat. All he would want to do would be to snuggle and drink milk.
• Night 1: This was always the worst. His temp would usually go to about 105 even with Tylenol and Advil in his system. He would often start to hallucinate that there were bugs in his ears, screaming until we could wake him up enough that he realized who we were and that there were no bugs.
• Day 2: Usually his temperature would stay at 102 even with medicine and he would just want to watch movies all day. He often wouldn’t eat anything and would only drink milk.
• Night 2: Fever would stay high, but he would sleep.
• Days 3-4: His temperature would return to almost normal. He would start eating again but still be extra clingy and emotional.

During a typical episode, we would go through an entire bottle of Tylenol AND Advil. I still worry what kind of damage that did to his little body. During the worst parts of his episodes, all we would do is sit and watch either Homeward Bound or Air Bud. This went on for over 2 years!

Looking for information:

Once I decided my son was sicker than usual, I started googling possible conditions. All I knew was that he often got a really high fever, typically had a sore throat but never tested positive for strep, and would often complain of leg pain. He didn’t ever seem contagious since no one else in the house ever got sick. I didn’t have much to go on, but after hours and hours of searching I found an entire class of syndromes called “Periodic fever syndromes”.

There are actually about 8 different types of periodic fever syndromes. They are defined as “three or more episodes of unexplained fever in a six-month period, occurring at least seven days apart.”. This sounded exactly like what had been going on! Since these syndromes typically repeat in a pattern I decided to try and figure out exactly when my son had been sick.

We discover a pattern:

Once I had an idea of what was wrong with my son, I started making a list of all the times he had been sick. I looked up the days I had taken off work and read through almost a year of text messages to see when I might have mentioned to family and friends that he had been sick. I was shocked to discover that for over a year he had been sick almost exactly every 28 days.

Now I felt like a horrible mom for never noticing such an obvious pattern! He was always sick around the end of the month. When I looked at the dates he had been sick, in one year he had been sick for Halloween, Thanksgiving, Christmas, Easter, his birthday, the birth of his sister, and a beach vacation. These are HUGE events when you are 2 and 3 years old!!

Want a way to track symptoms? I created a symptoms tracker you can get HERE.

Getting a Diagnosis:

Through my research, I realized our next step was to figure out which type of syndrome he had. Once we knew which periodic fever syndrome he had, we would know how to treat it. Based on his symptoms I had narrowed it down but would need our doctor to figure the rest out.

Like clockwork, his next fever came and we took him to the doctor. I told her how often he had been sick, but decided not to say what I thought was happening. Once she saw my list of dates, she came to the same conclusion as I had. She admitted she didn’t know much about these syndromes, but would look into it. That night she called us at home to say there were a few blood tests she wanted to do but they had to be done while he was sick. We went to the hospital that night and had his blood drawn.

The process of diagnosing PFAPA is to basically rule out everything else. During an episode, blood tests will show higher amounts of white blood cells and inflammation including the sed-rate and c-reactive protein. All of these will show as normal between episodes. Our son’s bloodwork came back showing these higher than normal amounts. This was enough information for our pediatrician to refer us to a specialist.

Seeing a Specialist

We were able to get an appointment in about a week with an infectious disease specialist at a children’s hospital 2 hours away in Richmond Virginia. She agreed based on his symptoms that he most likely had PFAPA.

The next step to getting an official diagnosis was to give him a steroid during his next episode. If he had PFAPA, his symptoms would go away almost immediately. They would not return until it was time for the next episode.

Another 28 days later, he had his fever once again and we gave him the steroid. It was a nightmare trying to get to him take it because it smelled and tasted horrible. We tried to bribe him, hide it in food but nothing worked. We finally had to hold him down and pour it in BUT he immediately spit it out. Somehow, enough must of been left in his mouth that about 20 minutes later his fever went from 105 to normal. It was exactly like the doctor said it would be.

Now What?

Once we knew he had PFAPA, we had to start looking into treatment options. Our doctor said we had 3 options. The first would be to wait it out. Research shows that many kids outgrow PFAPA by age 13. Our second option was to give him steroids every episode. The third option would be to try a tonsillectomy which had been shown effective in curing PFAPA some of the time.

During the 2 months when we were trying to get a diagnosis, I joined 2 Facebook groups for parent’s of kids with PFAPA. I discovered that many of the parents who chose to give their kids steroids found episodes began to happen more frequently. We didn’t like the idea of filling our son’s little body with medicine, and we also just wanted to be DONE with PFAPA! I didn’t want to deal with him being sick any longer!

The Cure?

In October of 2014, almost 4 months after discovering my son had PFAPA, he had his tonsillectomy. It was a rough surgery for a 3-year-old BUT he has been episode free ever since. That’s over 8 years of being episode-free!! The most unexpected part of this is that for almost 3 years he didn’t get sick with anything! He actually got sick for the very first time since his surgery in February of 2018 when he caught a stomach bug. In 2019 he had his first fever and sore throat. He’s had multiple close-contact exposures to COVID and has never tested positive. He has gone from being sick ALL the time and missing a full week of daycare every month to having almost perfect attendance at school.

Is he cured?

We don’t know. We’ve been told the PFAPA could come back at any time. The past 8 years of being healthy has made the tonsillectomy 100% worth it for our family.

The only side-effect of the high fevers we have noticed so far is that he has had more cavities than usual. Our dentist has said there is research that shows high fevers while teeth are developing can cause them to be weaker. You can read a research article about it here: https://www.ncbi.nlm.nih.gov/

Does your child have PFAPA??

Helpful Websites:

• PFAPA info from www.rheumatology.org
• PFAPA info from https://rarediseases.info.nih.gov
• Info on all periodic fever syndromes

On Facebook, search for the groups “PFAPA” or “PFAPA Child” to join a support community.

Would you like to see a copy of his care plan? I carried it in my purse at all times and gave it to his daycare. You can view it below (click to see full-size pdf):

Need a way to track symptoms?

Get a P.F.A.P.A. Symtom tracker HERE

Want to help spread awareness?

I designed a shirt t to help spread awareness about PFAPA. You can purchase it on Etsy HERE.

Do you have a child who has or might have PFAPA? If so, you are probably pretty familiar with waiting in the doctor’s office. Here’s a long list of screen free activities to entertain kids! Perfect for waiting rooms!!