Intro: Potential PFAPA diagnosis (anyone with similar situation?)

Kotmo

Back in March my daughter got sick for a week with a temperature that rose all the way to 106.5 and all she was complaining about was her tummy, we went to the ER and her glands were swollen and tonsils were enlarged. Many tests were done on her with everything coming back negative except for elevation in ESR and CRP (tests for inflamation). She was tested for Mono, Lyme, did a CBC, Throat Culture, Urine Culture, Blood Culture, all of which came back negative. After a week of her feeling awful, her fever disappeared and she was feeling totally normal again. I had never seen her get this sick before, the doctors just attributed it to a virus well exactly 6 weeks later she got sick again with the exact same thing, high fevers, swollen tonsils and glands, this time she was in soooooo much pain when her fevers would rise all for a week and then exactly 6 weeks after that to the day she got it again. So now we have already seen an ID doctor who believes it is PFAPA or FMF and tomorrow we are seeing the expert Rheumatologist at Children's hospital in Periodic Fever Syndromes. My question for you is this, if you are a PFAPA or FMF mom, how long did it take you to get a diagnosis? She has already had that test for immunoglobulin which is negative and we have not been tested yet for FMF. Thanks for listening

realisticdreams

Kotmo:

Back in March my daughter got sick for a week with a temperature that rose all the way to 106.5 and all she was complaining about was her tummy, we went to the ER and her glands were swollen and tonsils were enlarged. Many tests were done on her with everything coming back negative except for elevation in ESR and CRP (tests for inflamation). She was tested for Mono, Lyme, did a CBC, Throat Culture, Urine Culture, Blood Culture, all of which came back negative. After a week of her feeling awful, her fever disappeared and she was feeling totally normal again. I had never seen her get this sick before, the doctors just attributed it to a virus well exactly 6 weeks later she got sick again with the exact same thing, high fevers, swollen tonsils and glands, this time she was in soooooo much pain when her fevers would rise all for a week and then exactly 6 weeks after that to the day she got it again. So now we have already seen an ID doctor who believes it is PFAPA or FMF and tomorrow we are seeing the expert Rheumatologist at Children's hospital in Periodic Fever Syndromes. My question for you is this, if you are a PFAPA or FMF mom, how long did it take you to get a diagnosis? She has already had that test for immunoglobulin which is negative and we have not been tested yet for FMF. Thanks for listening

The FMF tests are genetic based and they take a couple of weeks to come back.  The PFAPA is diagnosed based on lab work during an episode and other symptoms.  M has PFAPA but she generally seems to feel fairly normal during her fevers.  The swollen glands and sores in throat are a big indicator as well.  Our labwork that is ordered when M has a fever is specifically for the ESR and CRP as those are BIG indicators of PFAPA.  About 80% of patients who have their tonsils and adenoids removed  will go into remission.  Also we were given a medication called orapred to give at the onset of the fever and generally it will kick the fever out within 24 hours.  Their are other medications as well.  We only see immunology but had considered seeing Rheumatology.  

Let us know what the rheumatologist says, their are a couple other PFAPA/other fever mommies on the board.  GL.  

Does anything bring her fever down?  I know we had to use suppositories because M would throw u when her fever was that high but even with them around the clock it would only go down to 102 or so.  Our immune testing showed that in addition to the PFAPA she has something called hypogammaglobulinemia.

 

jshf

We don't have a dx yet but we suspect DS1 has some sort of periodic fever syndrome. He has had 3 episodes of high fevers the past 7 weeks. He's had 2 blood tests for inflammation the first 2 episodes and they were high. However doc thought it was just due to him having some sort of virus. Now this latest episode, we don't think it's just a virus. Please keep us updated with further tests, etc. I want to make sure we are doing everything we can. Any suggestions on reducing besides meds would be great too. Thanks and GL!

Kotmo

So we went on Friday to Rheumatology at Children's hospital in Boston. It was the doctor, one resident and two med students, our room got a little crowded This doctor is known for her research in periodic fever syndromes. So the Rheumatologist ended up saying that it is really difficult to diagnose which type of periodic fever kids have, she said that sometimes they follow these patients for about a year before a diagnosis can be made. They are still thinking it could be TRAPS or Hyperimmunoglobulin D syndrome (even though she was tested for that) she said that the testing is not that reliable. She also said the genetic testing is not conclusive either, UGH! She is thinking it is most probably PFAPA. They were going to do blood draws to see her CRP, ESR and Mono% levels but decided against it since my daughter did very well there and they were scared that she would not want to come back. They do want to see her during an episode so when that happens, we will be coming back. She was talking about maybe using colchicine (they use that in FMF) or maybe prednisone or cimetidine, she will make a decision when she sees her. So that is where we stand at this point. I just don't know of anyone around here who are dealing with the same situation, thank you guys for responding and letting me know your experiences and I am sorry you have to go through this as well. Oh they also are putting my daughter in a registry study so more can be learned about periodic fevers syndromes as well as a study that any extra samples of blood or tissue can be used for more research. One of the consent forms was for patients diagnosed with PFAPA so I think that is what our doctor thinks she has.

Kotmo

For us, Ibuprofen brings the fever down, Tylenol doesn't seem to do anything. Our doctor also prescribed a zantac so it wouldn't irritate the stomach so much. My daughter also threw up a couple of times, I think the zantac helped a little still not sure how much.