Passing It On

Unlike how fun it was in middle school and elementary school to play “pass it on,” “passing it on” in genetics from yourself to a child is the last thing you ever want to hear has happened.

Although my son, let’s call him Bubba, hasn’t been officially diagnosed yet, the doctors are looking at a diagnosis of Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome, or PFAPA. It is a type of children’s autoinflammatory syndrome.

What happens when your child has PFAPA?

Recurrent fevers, with a sore throat, mouth sores and white patches in the throat, enlarged lymph nodes, joint pain, abdominal pain, headaches, and sometimes vomiting and diarrhea occur. 1 This happens on a cycle. The episodes last approximately 3-7 days, and in Bubba, it is almost always 5 days. The fever is a high fever, and in Bubba’s case it’s  103-104 during most episodes, for the duration of the episode. The interval between episodes can range from every few weeks to every couple months. In Bubba’s case it occurs the week of the 20th (the start day varies from a Friday to a Sunday) every single month. He also has a red throat, with mouth and throat ulcers, and I believe a headache, along with his high fever.

The cycles are so regular that it is predictable. We are sure when it is coming, based on the date of the month, but we can also tell the exact day approximately 1-2 days before the fever comes. Bubba shows horrible sleep patterns and a lot of crying in the 1-2 days prior to the start of the episode. The following day, his fever hits. The fever is debilitating for him. It causes him to barely sleep at night and have fitful sleeping during the day. He is unable to function, and most of the time refuses to eat.

During the last episode, he ate 1-2 slices of bread, a few banana slices, a couple pieces of pasta, and that was it over the course of 5 days. Of course he drank water, and because he refuses all food we offer him a bottle with formula to try to get some nutrients in, as he is still young.  He often refuses the bottle as well. Over the 5 days, he is awake at night from approximately 11:30 p.m.- 4 a.m. He sleeps soundly from 4 a.m. -8:30 a.m., and from 8 p.m. – 11:30 p.m. He will nap for about 4-6 hours a day during an episode.

How do children end up with PFAPA?

The frequency of this syndrome is currently unknown. No genetic link has been officially found at this point either, although some family members have been shown to have similar types of diseases/syndromes. PFAPA is in a classification of  autoinflammatory syndromes/disorders and is recognized by the American College of Rheumatology.

How do you know if a child has PFAPA?

There is not a specific test for PFAPA, however, there are several tests that repeated over time confirm that PFAPA is likely present. The first thing that will happen for Bubba’s testing is when he gets his next fever, he will go to the doctor, and be tested for strep, and other viral and bacterial infections. If the tests are negative (which they have been already in all other cases we have taken him in), then he will be sent for white blood cell counts, sedimentation rates, and a C-reactive protein analysis. These levels during an attack are altered and lead doctors to believe the child has PFAPA.

How is PFAPA treated?

Unfortunately there is not a solid, for-sure, treatment for PFAPA. Most children with PFAPA do not respond well to acetominophen, or ibuprofen medications to lower the fever. The only thing that has shown some results is a single dose of prednisone. Sometimes this will lower the child’s fever and shorten the episode. However, it doesn’t always work and prednisone treatments, especially long term, carry their own risks.

Although not completely proven as a solid treatment, but has shown positive results in some children, is removal of the tonsils.

How long does PFAPA last in a child’s life?

Episodes usually end by the age of 10, and the longer the child has episodes, the more likely they are to start to spread out and become less intense.

Unfortunately the episodes have a strong impact on the quality of life of the child, as well as the family, during the episode.1 Many children that are school-aged have a loss of attendance. The are no known long-term health affects related to having PFAPA, and growth rates are normal in children with PFAPA. Generally, these children are very healthy and successful between episodes.

Bubba requires approximately one week of recovery time following the ending of the episode. He is young, and very temperamental at this stage in his life. The disruption of sleep and eating greatly impacts his mood and life for about a week following the ending of the episode. That leaves approximately 2-2.5 weeks a month where he is our happy fun child.

In the end, every episode is difficult for everyone, but we make it through and relish in the wonderful times between episodes. Every month I just keep hoping we never see that fever approaching. We will figure it out, and we will keep moving forward. What else can you do?


1-    American College of Rheumatology