Immunology follow up...finally getting somewhere!

I LOVE his smile! 

Today we had Brayden's follow up with the immunologist at CHOP.  I love his doctor. Dr Jyonouchi is so personable and really takes the time to talk to you, listen and work with you to figure things out.

I posted yesterday that the genetic testing Bray had done for the genetic forms of periodic fever came back negative. Despite being upset about not having a diagnosis after talking to the dr I feel better. The way he explained it, they test for the genetic forms first because in the past people have been treated for the wrong form and ended up with long term issues b/c they weren't adequately treated for the genetic abnormality. But since it's not the genetic form the Dr is officially giving him the diagnosis of Periodic Fever but the PFAPA version.  Traditionally PFAPA is accompanied by enlarged glands and/or mouth sores but fortunately he's not in the percentage, thank god. At this point I'm thrilled that we actually have a diagnosis to work with. Another good thing about PFAPA over the genetic forms is that kids usually outgrow it by the age of ten. With that said it doesn't mean that he will always have the fevers at the frequency he's currently having them. When they get older they tend to spread out over time. From the onset through the toddler years tends to be the worst, so here's hoping things can only get better with time.

So now the game plan. We started him today on Cimetidine, which is actually a reflux medicine(H2 blocker) used for off label purposes.  Research has shown that it can drastically reduce the recurrence of fevers in many children, sometimes essentially curing them.  So we are hoping at the very least that it will lengthen the span between episodes. Any changes would be better! I'm not too familiar with this treatment but after doing some research it seems like a great starting point instead of some much more invasive options.

Our secondary line of defense is when the onset of a fever begins we will give him one dose of prednisone. I'm not thrilled about giving him steroids but it makes me feel better that's it's ONE dose and not a full week or anything.  The prednisone seems to be a standard treatment with PFAPA. What it's suppose to do is decrease the length of an episode. So instead of his normal 5-7 days it's given in hopes to reduce it to 3-4 days. From my "chatting" online with other moms of PFAPA kids I've learned that the steroids tend to reduced the length of fever but they can also increasing the frequency. In other words the child may have it for 4 days but they'll have a the episode every 2 instead of 4 weeks. I spoke to the Dr about this and he said that it does happen in a percentage of children, so it's just something we need to keep an eye out for since we won't know how his body will react to it.

So for now I feel a little better that we are doing something.  The fevers take so much out of him and it kills me to see him going through this at such a frequency. In my research I did see a lot of kids were getting their tonsils and adenoids out and it was "curing" them.  Not that I want Brayden to have any form of surgery but I wanted to see where our doctor stood on this. He said that at this point he feels that there isn't enough research to show that its effective for all PFAPA patients. In Bray's case he doesn't typically present with really enlarged adenoids or mouth sores so it doesn't seem to make sense to put him through such an invasive procedure.  Plus the procedure as a treatment is still pretty controversial in the immunology community so he is happier starting where we are to get things under control. Again less invasive is fine by me I just want my sweetie to feel better.  So here's hoping the new changes make some kind of difference. He just had his last episode this last week so we have another 3 weeks till we expect another one. We go back to the Dr in 4 months to see if the meds are helping to change the pattern, length or intensity of the fevers.  Wish us luck!!