I have a 14yo son who has been chronically ill for the past 16mos, making him homebound for all of his 8th grade yr. Prior to this his only illness was ear infections as a toddler which required ear tubes and an adenoidectomy. He was an extremely active kid who loves the outdoors and sports.
His symptoms first began with severe fatigue and heart palpitations. This was followed a month later by one week of 103-105 fever, then a week later came skin rashes, mouth ulcers that lasted for six months solid, joint pain, muscle pain, headaches, swollen eyes and later slight stomach upset. One of the first thoughts of his doctors was Behcet's disease. He is only missing one symptom in order to be diagnosed, but he doesn't fit that disease perfectly either. We continued testing and while trying to rule out IBD, they discovered he had eosinophilic esophagitis and inflammation throughout his GI tract as well. Just this week, he has also experienced pain and inflammation in his outer ear canal and chest wall muscles which his PCP could not relate to an infection.
The high fever has never returned in over a year, but eye inflammation, ulcers, skin itching/rashing, aches, pains, fatigue and nausea seem to cycle along with a fever of 99 (lasting only for a few hours). However, he never gets back to feeling normal between cycles.
After many, many specialist and tests (which always produced normal results), we met with a new rheumatologist for a second opinion. He suggested it could be an auto-inflammatory disease. So we experimented with taking high doses of Prednisone on the first two days of his symptoms worsening. The flare duration is shorter and he seems to feel pretty good for several days and then it starts all over, except now, some flares don't include mouth ulcers or fever of 99 - we are directed not to take steroids during those, so they last longer.
Genetic tests completely ruled out MWS and FMF. The results for TRAPS and HIDS tested only parts of the genes and were also negative. More testing for them could be done, but the doctor seems to be thinking PFAPA. Sure, Prednisone helps, but fevers aren't high, normal still isn't totally normal, the length of time between flares is not totally consistant, and there are so many other symptoms. Does this sound like PFAPA to anyone? Since steroids seem to help, should I still be pushing for more studies for TRAPS? Could it still be a vascular disease like Behcet's or Churg-Strauss? He doesn't completely fit any disease that I have read about and trust me, I have studied and read almost daily for a year.
Please give me your thoughts... I so want him to be able to enjoy life again!
Thanks for reading.
The Following User Says Thank You to Help4Son For This Useful Post: tmbbay (06-10-2011)
Re: Is it PFAPA or another auto inflammatory disease?
Francis66, thanks for your reply. Still's was something that we had looked into long ago. Here is why we thought no... his bloodwork is always normal, the rashing is often different than that of Stills, and bone scans don't indicate actual arthritis and damage in the joints. I will, however, bring this up to our new rheumatologist just to make sure he agrees.
Re: Is it PFAPA or another auto inflammatory disease?
I have a 2 year old baby and for the past 3 months shes beeng very ill to the point that the doctors in the hospital call cps on me because they couldnt find out what was wrong with the baby ,shes been recently diagnose at westchester medical center with fmf which is one of the most common syndroms from periodic fever syndrome,for me is beeing a rollercoaster,my baby is suffering her cicles every 3 weeks,high fevers of 103.5 to 104.00,stomach pain,joint pain,swelling and diarrhea.She lost 7 pounds in tha hospital and i was frustrated because the doctors culdnt find her problem,they ruled out crohns,she went twice to or for endoscopy and colonoscopy,they ruled out c diff,
Last edited by hb-mod; 11-22-2009 at 11:59 PM.
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Re: Is it PFAPA or another auto inflammatory disease?
hi im sydney lee i just turned 18 and i was the 41st person to be diagnosed with pfapa and i had the same symptoms as your son and although when i took the prednisone i would be ok for awhile but my fevers would come more offten than normal ... im acctually going through one of my fevers right now , the best advise i can say is as he gets older he will learn to handle it better and during the fever i still go out and cheer what i do is alternate from ibprofen to tylenol every two hours ... it works for me =] i was also told by my doctor there have been cases where aderol will take the fever away ... i hope my advise was some help and let your son know that it is not the end of the world it will get better and easier to deal with ... its hard when your so young to handle things like that i was just like him !!!
Re: Is it PFAPA or another auto inflammatory disease?
I'm probably not a good one for answering this one. I certainly can feel for your situation!!!
If this helps, my son is 12 who has what they are calling "periodic fever syndrome" for 5 years now. During initial testing, the doctor said he won't lable him "PHAPA" because that usually happens to children between the ages of 2 and 7 years old. He didn't start until the age of 7. Also, he said PHAPA patient's bodies do not react to Tylenol, Advil to relieve the high fevers so they usually have to go on steroids. Fortunately, my son's body does react to the Tylenol, etc.
If I was in your situation, I think I would apt for more testing. Don't give up, I know how frustrating it is, I too have been to so many doctors who have never heard of even Periodic Fever Syndrome or PHAPA. We're still dealing with the periodic fever syndrome, just more space in between episodes. Its not every 21 days anymore. But instead of lasting 3 days, they are lasting about a week, which is frustrating. I'm determined to NOT give up and still keep trying to think of tests he could have done or a way to make this go away. If I do find any answers, I plan on calling every single doctor he's been too!! In hopes of helping someone else.
Take care and hang in there! Tell your son to hang in there too, he's in our thoughts and prayers!
Last edited by Administrator; 08-27-2010 at 05:46 PM.
Re: Is it PFAPA or another auto inflammatory disease?
This doesn't sound like Pfapa to me. The main symptom that every child with Pfapa has is a high cyclical fever. They usually last 3-5 days and commonly occurs every 3-4 weeks like clockwork. I would pressure your doctors to run more tests.
Re: Is it PFAPA or another auto inflammatory disease?
I can't think of a test they haven't already run. His doctor knows he doesn't exactly fit the profile and that is why we don't have a PFAPA diagnosis, just one of an auto inflammatory syndrome. I don't really know where else to go.
Re: Is it PFAPA or another auto inflammatory disease?
Sydney - I tried to reply a few days ago and technology wasn't on my side. Don't know if things went through. Just wanted to thank you for sharing your story. I think your attitude is terrific. My son is also amazing with his faith and strength, but the fatigue is often very overwhelming. We take things one day at a time and do our best. Thanks again!
Re: Is it PFAPA or another auto inflammatory disease?
Thanks for all the support. It is just so frustrating and just when you think you've come up with a treatment that improves things then another flare rears its ugly head. My concern is that so many of his systems seem to be involved that I want to make sure that there isn't some long term damage occuring that we don't know about. We have seen specialist is almost every field and everything except the GI stuff seems to come back normal. I do a lot of praying. I'm not giving up, I'm just unsure of where to go from here.
Re: Is it PFAPA or another auto inflammatory disease?
Dear Help4son:
I've been dealing with this with my son for 10 years now (he's now 12) and he's had the fevers since he's 2 - we've been to every doctor - we are now seeing a rheumatologist. They are 99% sure my son has PFAPA, he has the fevers, the cycles every 30 days, mouth sores, abdominal pain - etc. - keep pressing the doctors to keep doing more tests -- believe me, I know how frustrating it is. And I hate when they tell me "there is no term damages or affect".. really?? How can that be - my son gets 105 fevers 5 days running every month... keep in touch! And Good Luck.
Re: Is it PFAPA or another auto inflammatory disease?
Quote:
Originally Posted by slee
hi im sydney lee i just turned 18 and i was the 41st person to be diagnosed with pfapa and i had the same symptoms as your son and although when i took the prednisone i would be ok for awhile but my fevers would come more offten than normal ... im acctually going through one of my fevers right now , the best advise i can say is as he gets older he will learn to handle it better and during the fever i still go out and cheer what i do is alternate from ibprofen to tylenol every two hours ... it works for me =] i was also told by my doctor there have been cases where aderol will take the fever away ... i hope my advise was some help and let your son know that it is not the end of the world it will get better and easier to deal with ... its hard when your so young to handle things like that i was just like him !!!
wow, were you really the 41st person diagnosed? My daughter was diagnosed at age 2, she is 4 now and has all the classic symptoms of pfapa. but as all mom's, you are not settled with the unknown answer of 'why'? Was it the vaccine, heavy metals in the body,.. really anything? Were you part of any studies? How old were you when diagnosed? How long have you been taking steroids? Any long term effects of the steroids? My daughter has been taking Prednisolone for about 1.5 yrs now. Have you tried any alternative treatments? Acupuncture, Homepathy, etc???
Re: Is it PFAPA or another auto inflammatory disease?
Well, I hope this new information we received helps you!! My son will be 13 years old at the end of June. He's been battling this fever stuff since he was 7.
Like all of you, we have been to many, many, many doctors and put our son thru many, many tests!! It wasn't until recently that we walked out of the doctor's office and said "Wow!! We FINALLY took a step forward!!!"
In the beginning, for the first three years he would get fevers precisely every 21 days. They would be 105 fevers that would last for 3 days. Total loss of appetite, headaches, sometimes throat sore when he swallowed. On a few occasions, upset stomach too. But I always felt his upset stomach stemmed from the fact that he just couldn't eat during those three days, so with all the medicine and no food, I thought that was what caused the upset stomachs. We always knew when on onset was about to occur because he complained of a headache, sure enough when we would check his temperature, it was beginning.
Then by year 4, he gained an appetite during episodes, fevers werent quite as high anymore, ranging more in the area of 102 to 103. Span in between episodes was longer ranging between 4 to 5 weeks.
We were told it sounds like "periodic fever syndrome" but that was basically a fancy name for "unexplainable fevers". We were told to not be worried, it would eventually fade away between 3 to 5 years without probably ever knowing why they occurred in the first place.
By year 5, the duration started to be about a week rather than 3 days. Still not very high fevers - 101 to 102.5. Probably 5 weeks in between. But still occurring. He missed 30 days of school this year!!!
During these 5 years, we had him tested for everything under the sun!! We had an MRI brain scan to rule out brain cancer (because of the headaches), he was tested for lymes disease, juvenile athritis, oh you name it!! Literally, the doctors could not come up with any other tests we could perform on the poor little guy. They did rule out PHAPA because they said that tends to run in children between the ages of 2 and 7, not STARTING at the age of 7. We were also told a lot of kids with PHAPA cannot tolerate Advil or Tylenol to control the fevers - our son can. Meanwhile, with all of the tests he had performed EVERYTHING in his body tested out normal, showing NO signs of ANYTHING wrong!! Another problem is 80% of the doctors we went to never heard of periodic fever syndrome, the other 20% may have heard about it, but never actually treated an actual patient for it.
Then................. in March of this year, we took him to see a Juvenile Rheumotologist out of Children's Memorial, on the recommendation of another girl from this website. I am SO THANKFUL we did!!!!
It had been 3 years since we had been to Childrens, and many many tests later to compare with. A lot of research has been done in the last 3 years!!! They now know a lot more about periodic fever syndrome and reasons for its occurrence and the different types!!
As they explained to us, there are two types: one is auto-immune (these children have severe joint pain - and cannot tolerate tylenol/advil). The other type is auto-inflammatory. Our son is the auto-inflammatory. He described it this way: Your body has many many genes in it. For some reason, our son has one mutated gene. Could have been carried from us, or started in him. There is nothing wrong with him, but his body sees a foreign object and has the need to fight off this foreign object, thus creating the headache and fevers.
He said he's had an over 50% success rate with a medicine he's been trying. Its called Cochicine. He takes one 0.6 mg. tablet every morning. This medicine is used on patience with gout. Basically, it tricks the brain in telling it that this foreign object is ok, don't attack it. I am VERY happy to say, his last fever episode was February 8th!! So to date, it has been 96 days since my son has had a fever!!! The hope is to keep him on this medicine for a little while, maybe 6 months because he is close to reaching puberty. Eventually, they will take him off of and they've seen patience just never get it again after taken off.
If the medicine does not work for any reason he said we could always increase the dose since he is on such a mild dose (which he said is safe, and pharmacist agreed too it is safe). Other alternatives is... the Mayo Clinic is aggressively researching Periodic Fever Syndrome and also a clinic in Maryland called the National Institute of Health.
I didn't think we would ever see this day!! We were getting close to the 6 year mark!!!
I always kept very accurate records. Every year, I buy a family planner, which by Dec. 31st becomes my diary. I write down every time we check his temperature, what it is, what we give him medicine wise, any test performed. I also ask for copies of his medical records from every doctor we have been to.
I would strongly suggest compiling all of your records and depending where you live, send it to a juvenile rheumoltogist to review. Or if you can... go to Childrens Memorial or Mayo Clinic. Or, write to them, perhaps even by email.
I always promised myself if we began to see answers to this long ordeal I would go on this site and express it to fellow moms. Believe me, I KNOW what you are going thru!! It breaks your heart to see your little one sick, your scared to death they will be scarred for life with this, scared there is an underlying problem that no one is seeing.
My husband and I (and our son) were so thrilled after this last appointment - I cannot tell you!!!
Hope this helps!!
The following user gives a hug of support to Marley01: tmbbay (11-04-2011)
Re: Is it PFAPA or another auto inflammatory disease?
thank you for your update and so happy for your success! I have always questioned my daughters joint pains she seems to get , but the specialists did the blood tests for rheumatoidal problems and everything comes back she is aok. It still doesn't sit right with me and I am going to make an appointment with a rheumotoligist. My daughter started fevers at 15 mths and your son at 7 (?). so it may be another dead end road for me, but as you, I have tried everything. as a matter of fact, I am waiting on blood work to tell me if she is allergic to any foods. and we are waiting on the orders to do another round of blood work for c-reactive protein, sed rate, rheumatoidal stuff, and lyme disease. I feel awful poking her with a needle again, but I can't give up that it is actually something. Thanks for involving us in your experience, it is encouraging!
Re: Is it PFAPA or another auto inflammatory disease?
Quote:
Originally Posted by SusanGD
thank you for your update and so happy for your success! I have always questioned my daughters joint pains she seems to get , but the specialists did the blood tests for rheumatoidal problems and everything comes back she is aok. It still doesn't sit right with me and I am going to make an appointment with a rheumotoligist. My daughter started fevers at 15 mths and your son at 7 (?). so it may be another dead end road for me, but as you, I have tried everything. as a matter of fact, I am waiting on blood work to tell me if she is allergic to any foods. and we are waiting on the orders to do another round of blood work for c-reactive protein, sed rate, rheumatoidal stuff, and lyme disease. I feel awful poking her with a needle again, but I can't give up that it is actually something. Thanks for involving us in your experience, it is encouraging!
Hi Susan
Your welcome! I noticed on most of these websites that everyone, like me, is looking for help, researching unanswered questions, but rarely did I find someone tell me that it actually went away!! I can relate though, in between episodes, we never even wanted to talk about it!!!
Can I make a recommendation to you?? All the tests you mentioned, we did as well. Even the rheumatoidal one you mentioned. Make sure that the juvenile rheumotoid doctor you go to is very familiar with periodic fever syndrome, or probably even more importantly, has actually had patients with this condition. I found most doctors have never heard of this.
Perhaps go on a website for Mayo Clinic (you can google it). Search for pediatric specialists that deal in juvenile rheumatologist. Email them and ask if you can send your child's records to them to review?? Or, email them and mention to them all the symptoms, the history, and all tests you have done thus far. Mayo Clinic is suppose to be aggressively researching periodic fever syndrome. It certainly can't hurt, the worse that could happen is they don't answer. Also, another clinic that is VERY AGGRESSIVELY researching is the National Institute of Health in Maryland. Perhaps you can find them by googling. If the medicine ends up not working for us, our doctor said he may send us there. Where we went was: Childrens Memorial Hospital in Chicago, Dr. Michael Miller. You can find him by googling. I did, after someone on this site recommended him to me. She went there too and was lucky as well!
As he explained it to us, there are two types of periodic fever syndrome - anti-inflammatory (which is what my son has) and auto-immune (which to me, sounds like what your son has.) They said some children have such severe joint pain, they cannot even get out of bed. Our son has no pain, just fevers and headaches.
Just to give you an idea, some of the tests we put our son thru were MRI to check for brain scan, opthomologist to look thru the pupil and take pictures between the brain and the eye; lymes disease; juvenile rheumatoid arthritis; we did so many complete blood workups ~ at one point every other day for one week prior to a fever, one week during a fever and one week after a fever. They checked his sediment rate, oh boy - you name it. Everything always came up that he was fine. We've been to internal disease specialist, or normal pediatrician, eye doctors, opthomologist, 2 ENT's, ~ the list just goes on and on. We even recorded his body temperature every morning and night for 3 months to have record of the changes and how they occurred. We found his normal body temperature to be 97.4.
But what Dr. Miller said, actually makes sense because it would explain why everything in his body checks out when he's sick. In all reality, there is nothing wrong with him, its just the body seeing a foreign object and finding the need to fight something off that is not really there.
I wish you the best of luck, hang in there and stay strong! I know how exhausting it can be and how worry-some.
Re: Is it PFAPA or another auto inflammatory disease?
Have you found any answers yet? I noticed you live in Houston Texas. I live in Houston as well, Clear Lake more specifically. My daughter has pfapa and is being seen by 2 infectious disease doctors, one in Clear Lake and one at Texas Children's. I have an appoint. w/ a rheumotalogist coming up as well. What doc's are you seeing?
Re: Is it PFAPA or another auto inflammatory disease?
Quote:
Originally Posted by SusanGD
Have you found any answers yet? I noticed you live in Houston Texas. I live in Houston as well, Clear Lake more specifically. My daughter has pfapa and is being seen by 2 infectious disease doctors, one in Clear Lake and one at Texas Children's. I have an appoint. w/ a rheumotalogist coming up as well. What doc's are you seeing?
SusanGD,
We actually live in Dickinson and see specialist at both Texas Children's and at UTMB. His Rheum is at TCH. We have spoken with doctors across the country and his rhuematologist is searching for studies for his participation, but no huge progress to date. My son is a unique case in that he doesn't have high fevers like most PFAPA cases, but has a very cyclic inflammation process that includes many systems and symptoms. Our next appointment is June 1 and at that time I would like to discuss the possibility of trying him on another drug - Dapsone or Colchicine. This has been discussed many times before, but think it is finally time to give it a try.
Re: Is it PFAPA or another auto inflammatory disease?
Help4Son
You might want to look at http://www.clinicaltrials.gov/ct2/show/NCT00001373?term=NCT00001373&rank=1
They are still recruiting for this study. It is in Maryland, but as I understand, sometimes their are monies for people to travel. I just spoke w/ the folks that answer inquires regarding studies, they were quite nice. you might want to consider it. my daughter is too young and her symptoms may not be exactly what they are looking for. they are sending me paperwork on it right now...
we have an appoint w/ a rheumatologist at TCH June 29th,w/ Dr DeGuzman. Do you know her? I am trying to find out if she is familiar w/ phapa syndrome, but so far no one has called me back. Are you seeing an Infectious Disease Doc as well? Wow, you live close!
Re: Is it PFAPA or another auto inflammatory disease?
Thank you for the study information. I will check into that. We have had the genetics studies that were available at the time and nothing came up, but will still contact them to see if my son is a fit.
I know many doctors at TCH and can make recommendations particularly in the rheumatology department. We have not seen an infectious disease doc... that is the one field we have not ventured into.
We have been battling this for over two years and have experienced all emotions possible and I'm here for whatever support I can give to those traveling down a similar path.
If anyone out there has knowledge of using Dapsone, please let me know. Thanks...
Last edited by Administrator; 08-27-2010 at 05:48 PM.
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Is it PFAPA or another auto inflammatory disease? 
