Alayna’s Diagnosis….PFAPA

Our little Alayna was diagnosed
today with PFAPA …Periodic Fevers, Aphthous Stomatitis, Pharyngitis, Adenitis
Syndrome. It is an auto immune disease. 

This syndrome includes recurrent
episodes of fever with aphthous stomatitis (mouth sores) and pharyngitis (sore
throat with redness). Occasionally, there also may be exudate (white patches on
the tonsils) and usually the lymph nodes in the neck are enlarged (adenitis).
Episodes of fever start suddenly and last for 3-7 days. 

Fevers occur routinely
every few weeks; often, families know the exact day when an episode will start.
Other symptoms include joint pain, abdominal pain, rash, headache, vomiting or
diarrhea. Children are completely well between episodes. 

Alayna has been
battling this for 1.5 years and we are happy to finally have a diagnosis. She’s
missed a LOT of school because of it. 

Some good news is 85% of cases go away in the teen years. Hopefully she’s in that
percentage (there are adults with PFAPA)…we are trying to see what can be for
her until then…since that’s still many years away for her, and she can’t continue
feeling so awful and missing so many days of school.  

We saw her pediatrician Wed. as she was running her typical bout of fevers and symptoms. I have been keeping a record of every time she’s been sick and her symptoms. They did blood work on her last month while she was healthy and on Wed. when she was sick to get a comparison of her white blood cell count. With everything I had on record and the blood panels, Dr. Shoptaugh (her pediatrician), said that this was indeed PFAPA.

She recommended we go and see an Ear, Nose, and Throat Specialist to give us another opinion and to discuss this syndrome further. So I called Thursday (yesterday) for an appointment with the ENT  and was able to get in to see him this afternoon!! He comes highly recommended. His wait-list is typically 2 months just to get an initial consultation. With all the prayers being sent up for her, God has heard them and is answering them!!! When I called and told her pediatrician so she could send over her records she about fell over! LOL! She said I was one LUCKY Momma. I know it’s not just luck. 🙂

At her appt. today the ENT, Dr. Jeffrey McKenna, recommended removing the tonsils.
They have seen about 80% of patients improve after a tonsillectomy. They aren’t
exactly sure why this helps. We discussed other treatments but they seem to just be band-aids. Steroids can be given at the onset of fever. The steroids knock out the fever and symptoms with in 30 min. Wednesday she took the steroids to see how she would react to them. How she responds to the medication also gave her another indicator that she has PFAPA. After so took the steroids (Prednisone) she was running around the house playing that evening and was able to go to school the next day. This felt like a miracle. Usually when she comes down with her symptoms she down and out for at least 3-4 days. However, not enough has been documented on the affects to children who take them for long term and I really don’t feel comfortable giving her this medication every 4-6 weeks. He also said Zantac, which is an acid reflux mediation you can get over the counter, helps. They also don’t know why a stomach medicine would help this disease. He said it makes absolutely no sense and was discovered inadvertently. Once the patient stops the Zantac however, symptoms return. None of these options felt like they were the answer. We wish the percentage for remission was higher with the tonsillectomy but it’s the best chance we have at this point in time. 

One thing of note is the ENT couldn’t say 100%  that he thinks she has PFAPA. She isn’t presenting “typically” as he’s seen in other patients. She does get sick every 4-6 weeks but with PFAPA patients it is like clockwork. It’s every 4 weeks on the dot, or 5 weeks on the dot etc. When I asked him about it however, he also said he couldn’t say she “didn’t” have it…got to love doctors… In his opinion he was leaning more towards run of the mill tonsillitis. Since the treatment/cure for both is a tonsillectomy he didn’t care what we called it…he said the tonsils have to come out. My gut feeling as a Mom tells me that it is PFAPA. She may not run so on the dot, but every 4-6 weeks is pretty regular and her blood work and symptoms are classic for this syndrome. Jared also has been diagnosed with MS and he doesn’t present “typically” either.

Alayna is scheduled to have outpatient surgery on June
9th….as long as she doesn’t run a bout of fevers at that time. Please keep
sending prayers for our sweet girl. I know this is a fairly routine procedure
but she was pretty shaken up after the Dr. explained what was ahead of her. She
tried so hard to be brave…but let’s face it…surgery is scary no matter how
old you are. She is however looking forward to all the ice cream, Slurpees, and
Popsicles she can handle for 2 weeks!