So all of this story happened across the time span of a few months. (A lot less time than it has taken me to write it out!)
All of the horrible times we endured and conflicting messages we were given were like pressure building in a geyser. This momma was ready to blow.
Then we get another call from the specialist's office. Nurse K tells us that now Dr. F wants us to do genetic testing.
Here is why that was frustrating and led to the severing of our relationship with Dr. F....
The genetic category is almost all of the time for people of middle eastern/Mediterranean descent. (Michael and I are the palest of pale people and are from Germany, England and Native American - I only got the cheekbones from this one, not the beautiful skin - descent.) In our first appointment, Dr. K told us that this was the most unlikely category for Ryder not only because of his ancestry, but also because of what symptoms he has.
There had been no change in what we knew about Ryder's fevers. There was not a new reason to put him through genetic testing that wouldn't have been present at the original appointment.
This is what bugged me the most. Why should we put Ryder through another test and pay out another $2,000 (insurance doesn't cover this test) when they can't explain that it is necessary?
We needed to talk to a medical professional we trusted. So I called up Dr. D's office and set up an appointment with him. Dr. D spent an hour discussing all of the results we had at that point from Ryder's blood tests, the letter Dr. F had sent him summarizing her thoughts about his illness, what his thoughts were after looking everything over and what our options were going forward. In the letter from Dr. F, she stated that the genetic category was highly unlikely and that he most likely had PFAPA.
Dr. D (oh how we love thee!) stopped all the double talk. He didn't talk in circles. He was very straight forward with us.
There were enough test results for him to feel comfortable in saying that it wasn't the second category of periodic fever syndromes (the one where it was dangerous for him to even try the steroids once). He also stated that from Ryder's symptoms, ancestry, etc, that the third category (genetic) could also be ruled out.
That left PFAPA. There is not a test for PFAPA. It is a diagnosis of exclusion. However, if when a fever starts, a small dose of steroids (not the bad kind) takes the fever away, that is a good indication that it is PFAPA.
Even though they weren't the bad kind, it really freaked me out to give him steroids....