Comments on Singing and Spinning: PFAPA update

Hi Amy, I previously posted about as "Lauren ...

2011-12-17T07:47:13.418-07:00

Hi Amy, I previously posted about as "Lauren W." Thank you for commenting back. I took your advice and my son saw the ENT last week. He agreed to do T&A and PE tubes at the same time. I'm so happy. His surgery is scheduled for January 9. I just hope he is fever-free that day or they won't do the surgery and he'll have to wait longer. I went back and looked at my calendar noting when fevers started and it's every 19 days most of the time; sometimes up to 21 days. He's due for another episode this Thursday or so and surgery is going to be cutting it close to the next fever episode. Anyway, we'll see what happens. He still has an appointment with Infectious Disease at Children's Hospital next week and we decided we will go there just in case we run into any issues with the fevers coming back after surgery.

I appreciate your blog very much and everyone's comments/advice. I will comment again down the road in a few months after surgery is over and he's hopefully doing better with an update.

Thanks Amy for writing me back! I was waiting to h...

2011-12-13T16:36:23.138-07:00

Thanks Amy for writing me back! I was waiting to hear what ENT would say and today he agreed to the "blue plate special": tonsillectomy, adenoidectomy, and PE tubes all at once. I'm so happy! I definitely understand it might not be a cure, but I'm happy to try. We will hold off on seeing Infectious Disease until the surgery is over and see how he does. I'll write back again down the road and let you know how it goes. Thank you so much for your blog.

My daughter's pediatrician just gave her a pre...

2011-12-10T23:20:04.805-07:00

My daughter's pediatrician just gave her a preliminary diagnoses of PFAPA. She is 2 and began having fevers on a regular basis 3 weeks after she got a combined vaccine. She has been getting them for 8 months now . . . anywhere from 3 weeks apart to 2 months apart. It breaks my heart to see her suffer. I was wondering if anyone else noticed a correlation between vaccines and the onset of PFAPA.

Lauren - If the ENT will do a T&A I would go f...

2011-12-05T20:56:50.033-07:00

Lauren - If the ENT will do a T&A I would go for it. The benefit of an infectious disease doc is just that he can look at your son as a whole and rule out any other illnesses. Just remember the T&A isn't a guarantee.

Good luck with your son and I hope he is healthy and talking up a storm soon.

Vanessa - Did your daughter have the T&A? I struggled so much with all of the different medications they wanted to try on Ivy. And each one we tried would improve her situation for a few months and then it would get back to fevers every 3 weeks. 107 was our highest as well. I shutter when I come across my "fever journals" and am just amazed when I look at her blood test results.

This is a great blog. I appreciate reading your st...

2011-12-05T20:33:26.274-07:00

This is a great blog. I appreciate reading your story and everyone's comments. My son started getting a recurring fever every 3 weeks 7 months ago. He also has a severe speech delay due to motor planning issues. He is 20 months old and has never said a word. Last month his doctor mentioned PFAPA and referred us to an ENT. We are seeing the ENT next week for a consult. My son's high fever and drooling are back this week so I called his doctor just to update him. Now he wants my son to go to Infectious Disease for a consult. I just want the tonsils and adenoids out! Would it be a bad idea in your opinion to have the T&A before he saw Infectious Disease? His doctor had originally told me ENT would do the tonsillectomy since he has had 6 recorded cases of tonsillitis in 6 months. I just don't want to wait any longer. It takes so long for referrals and appointments to happen. My son goes to speech therapy and he never gets anywhere because he is so often sick. I want him to talk, I want him healthy, I just want my boy to live a normal life.

My daughter does have a re-occurring fever. Now I ...

2011-11-18T11:08:06.172-07:00

My daughter does have a re-occurring fever. Now I am worried she might have this. I will have to schedule and appointment with her ent doctor and get her checked out.

To Patrick. My daughter is nearly five and was di...

2011-11-03T13:46:28.238-06:00

To Patrick.

My daughter is nearly five and was diagnosed with PFAPA when she was 6 months old. We went through all of the same issues as the rest with our daughter her highest fever was 107.2!! The doctor tols us to stop taking her fevers as it really didn't matter how high it got. My daughter is a patient at the National Institute of Health Peds clinic in Bethesda, MD. She was put on anakinra in July 2011. It has worked well for my daughter when the prednisone did nothing for her.

Hi :] i'm lauren and i was the 101st case of P...

2011-08-05T23:21:22.240-06:00

Hi :] i'm lauren and i was the 101st case of PFAPA in the U.S.
I was only one year old when i first started showing signs of this, and I was diagnosed at age three.
I'm 17 now.
I never had any treatment for it and i never had my tonsils out, either. They told us there was nothing we could do so my mother would just give me ibuprofen for the fevers the day or a couple days they knew i would start.
As I grew up, most all the symptoms have stopped. the only things i still get are little ulcers in my mouth and leg cramps.
but I wouldnt call them 'episodes' anymore. just things that happen :]
PFAPA is a disease where I grew out of. And I've read online, also that you grow out of it too.
I don't even remember me getting fevers and stuff. I'm healthy and everything too :]
I sometimes get sick easily though. I sometimes wonder if that is because of PFAPA bringing my immune system down, but nothing happends where its life threatening. I wish best of luck to your baby girl. she's precious. And i'm sorry she has to go through with this.
But it will get easier over time. :]

Thank you so much for posting this. My 4 year old...

2011-08-04T00:44:05.097-06:00

Thank you so much for posting this. My 4 year old has been spiking 104+ fevers regularly for about 6 months now. Today I took him to the Dr. and looking at his medical history he immediately said he thinks he has Periodic Fever. In googling it when I got home, PFAPA fits him to a T. Right now we're in the process of ruling out everything else (aka about 2 dozen vials of blood drawn for tests, poor little guy). The experience you have shared on your blog, as well as all the comments, have truly given me hope! Thank you so much for sharing Ivy's story!

Hi Katie- I hope it works for you. I'm so gl...

2011-07-28T08:42:21.457-06:00

Hi Katie-

I hope it works for you. I'm so glad that this post and all of the wonderful comments have helped. I'd love to hear if the T&A worked for her. We'll all keep our fingers crossed.

hi, again-- my daughter had her T/A surgery last ...

2011-07-28T08:39:59.906-06:00

hi, again--

my daughter had her T/A surgery last week. the recovery has been terrible (she's 2, they say it is usually tough for the little ones). once we get past this, then we wait and hope that it cured the PFAPA.

i found your blog at the beginning of our journey. luckily for us, it has been a much shorter one than many of you have had to endure. i just want to say thank you for the blog. it was a real help in those first days of learning about PFAPA. here's to hoping that my daughter is able to put it in her past!

with thanks,
katie

I started having very high periodic fevers when i ...

2011-07-28T06:59:30.983-06:00

I started having very high periodic fevers when i was 4 months old, accompanied by swollen lymph nodes and nausea/vomiting. It continued until I hit 6th grade. when I was in 5th grade my pediatrician said that I may have PFAPA. I am now 15 years old and this year my symptoms have come back. every time i get run-down or the flu is going around i show signs of PFAPA instead. your stories have been very helpful, but I have yet to read of a child have symptoms reappear after a sustained amount of time. If you have any info please share, thank you

Can't thank you enough for your blog and the m...

2011-07-23T18:02:11.748-06:00

Can't thank you enough for your blog and the many comments that followed your PFAPA update post. My 3 yo is experiencing her 6th fever in 5 months (every 3 weeks like clockwork). My daughter also had fevers her first year every 6 weeks, but had none her whole 2nd year. The past two have had mouth ulcers with the fever. After 2 rounds of blood work and still no huge answers aside from slight anemia, she's come up with another fever. Glad to know I am not alone and will be making a call on Monday for another visit (I'm on a first name basis now...sigh) and possibly an infectious disease recommendation. Thanks again for the info, the studies and encouragement! This is very possibly what she is having.

Hello Amy, I have a 5yearold son that for the las...

2011-07-08T10:04:15.741-06:00

Hello Amy,

I have a 5yearold son that for the last year was bean having fever every month..
So every time that happens I take him to the doctor and to the emergency room..

Las month I saw a doctor that told me he was PFAPA..

For now the doctor sent me to a immunology and Rheumatology..

Please I need more information on what specialist doctor to go to..

Can you help Me please..

Thanks..
please e-mial me at garota_carioca83@hotmail.com

I completely agree that having their tonsils out i...

2011-05-06T09:03:36.579-06:00

I completely agree that having their tonsils out is a WONDERFUL option for a cure. It is only a cure for 80% of those kids that suffer from PFAPA but an 80% chance is worth the surgery.

Ivy still has "episodes" that include all of her other symptoms but her fever rarely gets above 100.5 - which as far as I am concerned is a VICTORY. They are no longer regular but they are very obviously PFAPA episodes.

T&A-ectomy is definitely the way to go. I hope everyone falls in that 80% that cures it.

Get your child's tonsils and adenoids out! ...

2011-05-06T08:54:24.737-06:00

Get your child's tonsils and adenoids out!

My son was diagnosed w/ PFAPA at age 3. We saw the Infectious Disease specialist at DuPont Hosp. in Wilmington, DE. Also saw same at CHOP (Children's Hosp. of Philadelphia). Were told that he would need to take prednisone, etc. I was not happy, as my son would be on steroids more than once a month. So I only gave him Tylenol, etc. to make him more comfortable.

Long story short: saw ENT at DuPont who told me that it is a fact that removing tonsils and adenoids were the cure.

He also indicated that infectious disease specialists do not wish to recommend the operation, and string you along, medicating the child, not curing the child. This ENT (a God-send!) indicated that he had written an article for JAMA, but they would only publish it in their ENT section, not their Infectious Disease section, so Infectious Disease specialists did not get the chance to read it.

My son had the safe prodecure performed when he was 7. The Doctor indicated that, upon looking at the removed tonsils, they were filled w/ pus. The tonsils are the source of this cyclical infection.

My son is now 10. He has NEVER had an episode since. After languishing w/ the build-up to a fever, the fever itself for 3 days, and the exhaustion from going through a fever every three weeks, for more than 4 years, my son is now a far more energetic boy, who does not fear getting fevers.

A friend of mine has a son who was diagnosed w/ PFAPA recently. He has already seen the specialist at DuPont, and is scheduled for surgery. Wish I had done that much sooner than I did.

Please contact a pediatric ENT, or, if you get no satisfaction, call DuPont Hospital.

to patrick... wow! so interesting! my cousin is a...

2011-04-19T13:23:40.277-06:00

to patrick...

wow! so interesting! my cousin is a genetic counselor and i plan on passing on this news, as well as bringing to our next doctor visit (planned with an assumption of a PFAPA episode occurring the first week of may).

it is my little girl's 2nd birthday today, and this is exciting news to have! we have been getting the fevers at the beginning of every month (last one was 2 weeks ago), but she just had another flare up this weekend.

it sounds weird to "hope" for PFAPA, but i sure would like this to be our answer. (as i previously posted, we are in diagnosis mode)

thank you!

Part 2: According to a study published in the ear...

2011-04-19T06:46:39.371-06:00

Part 2:

According to a study published in the early online edition of the Proceedings of the National Academy of Sciences (8 April 2011), has identified a promising new treatment in children for the most common periodic fever disease in children. The proposed treatment, which will be validated in a larger study before it is recommended in treating PFAPA syndrome, wards off an inappropriate immune system attack without increasing the frequency of flare-ups, a problem caused by the current standard treatment with corticosteroids.

“Until now, the basis of PFAPA has been a mystery,“ said senior author and NHGRI Scientific Director Daniel Kastner, M.D., Ph.D. “Advances in genomic analysis have allowed us to define a major role for the innate immune system, the body's first line of defense against infection. Targeting a specific product of white blood cells at the first sign of fever appears to abort the attacks.“

The new experimental treatment resulted from the authors using a systems biology approach, which entailed gene and protein expression and cell biology analysis in carefully selected patient and healthy control subjects, to determine the underlying disturbance of the immune system. They analyzed patient blood samples to detect which gene and protein networks are involved in the cell signaling and metabolic pathways activated in the disease. The study evaluated 21 patients with PFAPA syndrome along with an equal number of healthy children and 12 children with a distinctly different set of hereditary fever syndromes. They analyzed gene expression during episodes of fever and intervening periods when the children were well. The analysis revealed gene expression profiles that uniquely identified PFAPA immune response.

During PFAPA flare ups, the authors detected activation of both forms of immune response: 1) the innate first-line-of-defense immunity, and 2) adaptive immunity, which is the body's ability to detect and remember an infection in order to fight it later. This dual response supports the idea that the fevers of PFAPA are an immunologic response to some external stimulus, possibly related to microbial infection.

The authors looked for biological markers that would indicate the onset of a flare-up of fever in children with PFAPA. During PFAPA flare-ups, the authors detected decreased numbers of activated T cells, white blood cells that play a role in the cell's innate immune response. They suspect that these activated T cells migrated to the lymph nodes in the neck, where they accumulate. They also detected over-expression of genes activated in innate immune responses, including interleukin-1, a molecule that is important in triggering fever and inflammation.

From these data, the researchers hypothesized that anakinra, a drug that prevents interleukin-1 from binding to its receptor, could be therapeutic. They administered anakinra by injection to five children on the second day of their PFAPA fevers and all showed a reduction in fever and inflammatory symptoms within hours.

“The anakinra treatment has the potential to restore these children to a mostly symptom-free childhood,“ said Dr. Kastner. “The comprehensive analysis of gene expression during PFAPA attacks would not have been possible without the tools created by the Human Genome Project, and the possibility of an effective treatment is yet another of the genome project's many dividends.“

A larger clinical trial for the use of anakinra in treating this periodic fever syndrome is planned, Dr. Kastner said.

Hey everyone: It is not often we get new news abo...

2011-04-19T06:46:08.933-06:00

Hey everyone:

It is not often we get new news about this issue, but the following was posted in the April 17th Ontarget newletter (you can join by going to http://www.targethealth.com/ontarget.aspx and registering). A potential option to go along with surgery and corticsteroids. The actual proposed treatment is all the way down in the second-to-last paragraph. Pretty good news...

I need to post in two parts

Cause and New Treatment for Common Recurrent Fever in Children Identified

A syndrome called periodic fever associated with aphthous stomatitis, pharyngitis and cervical adenitis - or PFAPA, is characterized by monthly flare-ups of fever, accompanied by sore throat, swollen glands and mouth lesions. Children with PFAPA syndrome experience attacks of fever, each lasting three to six days, usually three to eight weeks apart. Their predictability is so regular that parents have been known to make pediatric appointments a week ahead of when they expect their child to experience a PFAPA episode. Affected children experience their first attack before the age of 5, with fever episodes usually abating in adolescence or young adulthood. While the only remedy for PFAPA, besides corticosteroids, is removal of an affected child's tonsils, which has a good rate of success in eliminating PFAPA syndrome, but is an invasive alternative.

it's great to see stories from others going th...

2011-04-05T09:28:51.094-06:00

it's great to see stories from others going thru the same thing. My son Brennon is 6 years old and has been having episodes since he was 2. We finally have a diagnosis of PFAPA that we received in aug 2010 after 4 years of antibiotics, shots, blood tests and multiple multiple doctors visits. We ahd a nice brek of 5 months this year but as of march we have had 3 episodes 2 weeks apart. Just today our pedi suggested sending him to an ENT docotor to discuss tonsil removal. we re hopeful it will stop the episodes compltely. Though we do use the predisone and it does help to stop his fevers. we call them his magic pills...

hi, there-- just this morning my pediatrician bro...

2011-04-02T13:59:59.643-06:00

hi, there--

just this morning my pediatrician brought up PFAPA. after reading all of these comments, i am feeling grateful to have the doctor that we do. my daughter is 23 months and has had fevers in the 103-105 range every month, almost to the day, in 2011 and previous fevers every 2 months before that in 2010. the more i read, the more convinced i am that she has PFAPA. realizing how debilitating this could be once she reaches school age and would have to miss a week every month with a non-contagious syndrome that presents with a fever really started to make me realize what struggles that all of you go through.

we are just starting on a road to a definitive PFAPA diagnosis. i appreciated being able to read this blog. thank you.

Thank you for the information Amy! Is it hard liv...

2011-04-01T21:16:44.050-06:00

Thank you for the information Amy! Is it hard living with PFAPA? Is it difficult for you little girl? Hopefully Will's fever will be gone by Monday otherwise the doctor is going to call infectious desease.

Anonymous, My daughter had 6 episodes spread 9 mon...

2011-04-01T15:05:04.986-06:00

Anonymous,
My daughter had 6 episodes spread 9 months apart before we went to the specialist for the initial visit. 3 months later at the next follow up (and 3 more episodes later) he diagnosed her with PFAPA. Her fevers only lasted for about 4-5 days though.
Wish you all the best!

The first month Ivy had a fever for most of the mo...

2011-04-01T14:58:09.073-06:00

The first month Ivy had a fever for most of the month. Then we skipped a month and then it was back the third month for about two weeks.

It took about 6 months before they determined that it "might be" PFAPA but that was after they had ruled out so many other illnesses.

But we weren't confident about the diagnosis until we tried the prednisone and it responded exactly the way the doctors said it would for PFAPA.

How many fever episodes did your child have before...

2011-04-01T14:45:33.386-06:00

How many fever episodes did your child have before they decided it was PFAPA? I went to the doctor today with my son who has had a fever for 8 days now and he said if it happens next month he is going to send us to infectious disease. He had a fever most of the month of January but none in Feb.