Friday, March 9, 2012

Immunologist and Periodic Fever Syndrome

We finally had our consult with the Immunologist at CHOP yesterday and I think things went pretty well considering. We saw Dr. Soma Jyonouchi, and he was really great. Everyone we have worked with at CHOP so far has been wonderful but it's so reassuring to have drs actually listen to you and work WITH you to figure out what is going on.  Since I had been calendaring Brayden's fevers we've found they are usually occurring ever 3-4 weeks and are lasting 5-7 days.  Based on all of his symptoms (or lack there of), the results from the testing we had done at the hospital he agrees that there is good chance Brayden has Periodic Fever Syndrome (PFAPA) so he is labeling it that as a preliminary diagnosis.

The doctor describes PFAPA as a defect in the fever mechanism. Normally when someone has a viral/bacterial infection the body's normal and healthy response is to run a fever to fight it off.  In the case of PFAPA the body actually runs a fever when it is in the absence of an infection. Essentially flipping the switch at the wrong time. So the next step was to run some comprehensive blood work and genetic testing. PFAPA has a few different types so they were testing for three of the genetic variations to see if he has one of those. There is also a non genetic version so it doesn't mean he definitely doesn't have it if those come back negative.   I was just glad that the tech was able to get his vein the first time and he wasn't a SUPER slow bleeder like the last time he was in the hospital. That time they had to get it drop by drop even after hydration. They bloodwork included:

Genetic Testing
       214 Familial Mediterranean Fever (MEFV)
       216 Hyper-IgD Syndrome (MVK)
       215 Familial Hibernian fever/TRAPS (TNFRSF1A)
Anti-tetanus Antibodies
Diptheria Antibodies
CBC with Differential (blood counts)
Sedimentation Rate
C-Reactive Protein (Inflammatory Marker)
Basic Lymphocyte Panel
Pneumococcal Antibodies
Immunology Panel (antibodies)
       Immunoglobulin M
       Immunoglobulin A
       Immunoglobulin G

The dr said that the majority of the blood work will be back with in 1 1/2 to 2 weeks. The genetic testing takes 6-8 weeks to get back but they are going to call us either way to go over all of the details of what they do and don't find. If they confirm the PFAP then he said there are 6 treatment options. Each one varies depending on the form of PFAP and his particular situation. He didn't go over everything with me as far as treatment since he said it can be extensive to explain and possibly unnecessary to go over until we have an official diagnosis.

Brayden did really great with the dr and his bloodwork. He surprisingly really liked his dr.  He was sharing snacks with him, playing peek-a-boo and trying to get him to pick him up.  Considering how he has reacted to most of the drs at our appointments and in the hospital this was a welcome change.  :) Of course he cried and screamed while they took 8 tubes of blood but he did so good. I hate having to hold him down for testing, blood work and procedures, it really breaks my heart.  Being pregnant on top of it makes it even more emotional for me.

So for now we wait.  He is currently in a window of being "due" for another episode but hasn't had things go completely nuts...yet. He has been running a low grade fever 100-101 for the last 3 days. I'm not sure what to think, since it doesn't fit the usual profile where it stays 103-105 even with meds. I'm hoping and praying it doesn't decide to spike and his body is just taking it easy on him considering the severity of the last episode. His temperament has definitely fit the PFAPA pattern this week. Usually right before it starts he is extra miserable, crying, clingy, waking at night crying more than normal, and that's been happening all week. For now I'm calling it a mini-episode and going with the flow of things. I'll take this kind of "episode" any day of the week over the hell he normally goes through.

Since he has been so good through all of the drs and sickness stuff I decided to take him to Toys R Us to get a little prize. He's obsessed with his Hot Wheels so i was planning on letting him pick out some more but once he saw a firetruck it was over. I think he definitely deserves it! He was so excited! Of course he sat in the cart pushing the siren buttons for the 15 minutes we walked around the store. lol

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