It appears you have not yet Signed Up with our community. To Sign Up for free, please click here....



Children - Special Needs Message Board
Post New Thread   Closed Thread
LinkBack Thread Tools
Old 06-10-2010, 12:20 PM   #1
Junior Member
(female)
 
Join Date: Jun 2010
Location: Virginia
Posts: 18
jenna*** HB User
Question my son was diagnosed with PFAPA, or Marshall's Syndrome

Today my son was diagnosed with PFAPA, or Marshall's Syndrome. I started searching and found this site. So here it goes:

Back in February of this year, my baby (15 months at the time) had his first seizure. In 3 months he has had 7 febrile seizures (the big ones where his entire body twitches, his jaw locks, his toes curl under, etc. - it's horrifying to watch), each one ending in an ambulance ride, ER visit, hospital stay, and once an intubation w/overnight stay in PICU after almost losing him. Neurologists told me "stop the fevers, the seizures will stop". Infectious Disease at CHKD couldn't find anything. Immunologists couldn't find anything. No one knew where these fevers (sometimes up to 105.3) were coming from. We have to keep my son on Valium when his temp hits 100 to try to prevent a seizure, and we have a rectal syringe of a large dose of Valium when he has a seizure. I usually can't tell he's fever is spiking until he starts seizing. We had to switch daycares (thinking he was having an allergic reaction to something there), I went on FMLA for 3 weeks to care for him without pay, meanwhile medical bills rolling in like a flood.

Then this afternoon I get the call that it is PFAPA and that he has puss pockets in his tonsils. A simple tonsillectomy will take care of it. Forgive me for sounding paranoid or suspicious, but I'm scared that this won't be the end of it.

I'm reading of all your posts with your children having fever spikes for numerous years, which, although bothersome and very frightening, is really more of a nuisance than anything. My son's fever spikes land him in an Emergency Room with vitals at 60%, struggling to breath, twitching like a fish on a stretcher. I can't stand this anymore. We have continually watched doctor after doctor tell us they know nothing, meanwhile knowing that at any moment I can walk into his room and see his crib shaking. I check his temperature AT LEAST 4 times every night while he sleeps. We now have him in a daycare for special needs children because he needs special care to make sure they keep tabs on his temp, which costs twice as much as normal daycares.

ANYONE have ANY ideas? Anyone have a child that's had a combination of PFAPA and febrile seizures? My baby is only 18 months old and we just want him to live a normal life for once and possibly make it an entire month without a seizure.

 
Sponsors Lightbulb
   
Old 06-11-2010, 09:14 AM   #2
Newbie
(female)
 
Join Date: May 2010
Location: Iowa
Posts: 4
KR1991 HB User
Re: Is it PFAPA or another auto inflammatory disease?

I would not encourage you to rule out Pfapa. But I'm an 18 yr old who battled pfapa for many years. My symptoms were always consistent. I had fevers on such a schedule that my family planned our vacations around the days they knew I would be sick. The time in between my episodes was always 3 weeks. During those 3 weeks, I was very weak and caught other things more easily, but there wasn't any sign of my pfapa. Maybe your son has a different type of pfapa though? My best friend suffers severe similar symptoms with Crohns? Have they checked for Crohns? My prayers are with him and you! If I can help in any way please let me know...

Last edited by Administrator; 04-19-2012 at 06:03 AM.

 
Old 06-11-2010, 10:46 AM   #3
Newbie
(female)
 
Join Date: Mar 2010
Posts: 6
suvie333 HB User
Re: Is it PFAPA or another auto inflammatory disease?

Try the chiropractor...I've been taking my 8 year old and the episodes have been drastically reduced. I have also cleaned up his diet--more calcium/mag, fish oil, and organic dairy (also taking homeopathic remedies). Have your chiropractor adjust the C1 vertebrate--apparently when this is out of alignment it can cause systemic inflammation. I've seen every specialist you can imagine. Seeing how this approach works before ENT does surgery. Hope this helps.

Last edited by moderator2; 06-11-2010 at 02:52 PM. Reason: please do not post your email address

 
Old 06-11-2010, 10:54 AM   #4
Newbie
(female)
 
Join Date: Mar 2010
Posts: 6
suvie333 HB User
Re: Is it PFAPA or another auto inflammatory disease?

Yes, my son had a full blown seizure during an episode. THis is how my investigative journey began into this syndrome. After many specialists and doctors the only solution seems to be an tonsillectomy/adnoidectomy. However, I am trying one last therapy before I resort to that. I have been taking my son to a chiropractor after I received an email from another parent whose child has PFAPA. Apparently when the C1 vertebrate is out of alignment, it can cause systemic inflammation and cause all sorts of reactions. I am also consulting with a naturopathic Dr. who is also giving him some natural rememdies to help boost his immune system. Since I've been doing this, his episodes are growing farther apart and less severe--very mild now. He is also taking supplements and fish oil. I know how scary this can be! I can only imagine dealing with a baby with this I really feel for you. Hang in there!

Last edited by moderator2; 06-11-2010 at 02:52 PM. Reason: please do not post your email address

 
Old 06-11-2010, 11:02 PM   #5
Junior Member
(female)
 
Join Date: Jul 2009
Posts: 10
beksmith HB User
Re: Is it PFAPA or another auto inflammatory disease?

Your story is much like our own with our son. (he is nearly 3 now.) First febrile seizure was when he was 17 months old. 105 + fever. For the next 8 months he had 12+ 105+ fevers, 4 that caused grand mal febrile seizures-all 4 needed ambulance rides. 2nd seizure almost cost him his life, due to aspiration during seizure-went into respiratory arrest, only with him, they couldn't intubate, even though they were desperately trying to because of the continuing seizure. It was the scariest, most heart lurching moment of our lives. He ended up in ICU for three days after that...and all together in the hospital 10 days. (he got "aspiration pneumonia") When we got to the ER, and all the docs/staff were running around doing their thing, they sent the hospital chaplain in to talk to us. We were in a shock like state. I can sooooooooooooo relate to what you are going thru and my heart breaks as the memories are still so vivid of what life was like during that time.

Long story short (lots of doc visits, tests etc...) we ended up with a PFAPA diagnosis when he was 2 years old. We opted for the tonsil/adenoid surgery ASAP. For him, PFAPA was life threatening due to his febrile seizures (they were considered "complex" seizures) He had been hospitalized two times for complications from aspirating during the seizures, and we couldn't take it anymore. The tonsil surgery was 10 months ago. He hasn't had a single episode since then. He popped up with a fever though, about 2 days ago...it was eerily familiar because it got up to 104 and he just seemed to have similar symptoms as before (minus the seizure). Sore throat, swollen glands and pretty lethargic. But Im not going to be too concerned since his brother just got over a virus last week with similar symptoms and Motrin takes the fever right down. (whereas when he had PFAPA episodes before surgery, we could not get the fever down with over the counter meds.) The tonsil surgery was the best decision we could of made and we have no regrets. Even if PFAPA comes back...(and from what I hear, if it does, it may be more mild) it was still worth it.

And just FYI for people considering immunization as a cause...my son isn't immunized.

Last edited by Administrator; 08-27-2010 at 05:28 PM.

 
Old 06-12-2010, 10:43 AM   #6
Junior Member
(female)
 
Join Date: Dec 2008
Location: Las Vegas, NV, USA
Posts: 15
Linden123 HB User
Re: Is it PFAPA or another auto inflammatory disease?

I was constantly worried about our daughter getting seizures as well. Her fevers got as high as 106.3 without ever getting a seizure. Like you however, we spent many a night in the ER and were often admitted. My daughter's fevers were cyclical. The occured within two days of the 15th every month. Our doctor informed us that the Child's response to the fevers was hereditary. Some families are just much more likely to get seizures with their high fevers. One thing that did help my daughter was to give her IV antibiotics as soon as the fever started. Eventually we started keeping her on oral antibiotics which did seem to help. Finally in January of 2009, when she was three and after two years of fevers she had an adenotonsillectomy. She had not had a single fever since. We are very grateful that she is now cured. Make sure that your doctors rule out all genetic fever disoders and Crohns disease. Best of luck to you.

 
Old 06-12-2010, 12:33 PM   #7
Newbie
(female)
 
Join Date: Jul 2009
Location: katy, tx usa
Posts: 6
fischersmom HB User
Re: Is it PFAPA or another auto inflammatory disease?

I know a lot of you are saying that the surgery is the "last resort", but in all honesty it is the ONLY resort. It's the Four Seasons resort!!!! It's not even that bad of a surgery or recovery time. Yes, your child will have to eat ice cream and popsicles for a few days (they love it!), and the anesthesia part is scary, BUT i, etc!!!!!t is SO WORTH IT!!!! I swore that once my son was better I would always come back to this thread and post advice and our story. I cannot stress enough how important it is to get the surgery!!!! Your lives will be forever changed.

 
Old 06-13-2010, 10:26 AM   #8
Newbie
(female)
 
Join Date: Sep 2008
Location: white plains,ny
Posts: 3
josie34 HB User
Re: Is it PFAPA or another auto inflammatory disease?

I know what you are going true my daugther started with her problems at 2 years she isactually 4 andstill is undiagnose she sees reumathologist,gastroenterologist and neurologist they still dont knowwhat is the best treatment for her they are pretty sure is fmf or mediterranean fever but not sure yet .I know it is very frustrating not to knowwhat to do but dont lose hope and keep taking her to every place your pediatrician refear you okkk. lots of luck Josie

 
Old 06-15-2010, 07:23 AM   #9
Junior Member
(female)
 
Join Date: Jun 2010
Location: Virginia
Posts: 18
jenna*** HB User
Re: Is it PFAPA or another auto inflammatory disease?

Well, to update everyone, we had Matthew's appointment with the Immunologist/Allergist/Metabolic/Genetic doctor (yes, she does all of that). Drove 2 hours to the appointment and paid (yet another) co-pay for her to say she wants to wait before doing the tonsillectomy. Says she's not sure that's what it is because his appetite doesn't stop when he has an episode. My son eats at least twice as much as typical toddlers. I don't think anything will ever make him STOP eating. It surprised me that she was so willing to dismiss this simply due to that.

Then she tells us she wants to wait for him to have another seizure to get blood work done while he's having an episode. ARE YOU SERIOUS??? I understand that she's looking at this from a doctor/scientific standpoint (there's some research being done and she wants him a part of an NIH study a few hours away), but I'm looking at it from a mother's standpoint and I don't want to see my baby have another grand-mal seizure before someone does something! Screw her research. Even if getting his tonsils out only has a 25% chance of working (not what she said, I'm just throwing a number out there), considering the minor side-effects and risks involved for a very minor/basic surgery, I think it's well worth the risk to try!

We have an appointment this Friday with his normal pediatrician to see if she'll set us up with a tonsillectomy (considering SHE was the one to suggest that to begin with). Meanwhile, his 3-week mark is coming up on the 26th and I want those things out before that happens and I have to watch him suffer through another horrific seizure.

I'll keep you updated.

 
Old 06-15-2010, 07:30 AM   #10
Junior Member
(female)
 
Join Date: Jun 2010
Location: Virginia
Posts: 18
jenna*** HB User
Re: Is it PFAPA or another auto inflammatory disease?

*****beksmith*****

Thank you for your feedback. It's nice to know my son is not the only one to go through having not only complex febrile seizures, but also repeated unexplained fever spikes, numerous hospital stays with ICU/intubation/etc and survive. I've never been so scared in my life as I was February 27th when we almost lost him. Please keep reading my posts on this and I'll keep you updated as to his status. I would love to speak with you more on this if you don't mind. We are so frustrated and helpless, it's nice to talk to someone who can relate to your situation and can help guide you more than the doctors can.

Last edited by jenna***; 06-15-2010 at 07:33 AM.

 
Old 06-15-2010, 10:52 PM   #11
Junior Member
(female)
 
Join Date: Jul 2009
Posts: 10
beksmith HB User
Re: Is it PFAPA or another auto inflammatory disease?

I will keep myself updated on your situation and feel free to ask me anything...I really do understand. I hear your desperation after your recent appointment with the immunologist/allergist etc..doc. I would feel the exact same way! We lived in a different state before getting an official diagnosis, and were getting such a run-a-round, and was about to be referred to a rheumatologist. We had to move out of state and that sort of put everything on hold for a month. So I did research/calls etc..during our move to find out the best physicians in the area we were moving to. (thankfully it was to a much bigger city with a lot better healthcare) In the meantime, I took my son's temp every day probably 5 or more times a day, and had Motrin, Tylenol, thermometers (three different kinds to get accurate reading) and his seizure kits-emergency meds in case of seizure. But before he could even get in to see his new pediatrician, he ended up having another episode, and ambulance ride. At least this got the ball rolling for his healthcare in our new place of residence. (had to look at the positive side.) I was the one that actually started finding out info online about PFAPA. I brought all my son's records to the new pediatrician (who came highly recommended...she specializes in kids with special needs, or special medical needs), and also brought along a bunch of printed off info about PFAPA. She ended up meeting with a couple other doctors, pouring over his medical records from previous doctors, and going over medical journals about PFAPA and other cyclic fever syndromes. They did some blood work, and a trial with prednisone (which stopped the episode within hours of starting..) between blood tests that ruled out other things, and the test run with prednisone, they determined that he did have PFAPA, and officially gave him this diagnosis. They asked me if I wanted to see rheumatology for treatment before going to ENT for tonsil consult. I said "nope" that I wanted those tonsils out ASAP. I had read enough info online to confirm that the surgery was worth the risk...especially in his case since the PFAPA was much more than just a nuisance...but life threatening (as mentioned before). The ped called around to see if she could find an ENT doc familiar wit PFAPA...and on her first call, the doc finished her sentence for her when she said "i have this patient with fevers every 28-35 days..." he said "oh PFAPA". He'd done tonsils/adenoids on a handful of patients with the disease and to his knowledge they had all been successful at stopping the episodes. So he squeezed us in, and the rest of the story is that he ended up having surgery, and we are soooo thankful. It helps if the ENT doc is familiar with PFAPA and how it works...not all are. Hopefully you can have your ped look around and find one for you.? I think this waiting for another seizure to happen plan stinks. I would be like you and move on to getting more appropriate care. We saw neurology before this, and he said "stop the fevers and you stop the seizures" too. He said it wasn't even truly a neurological condition, but whatever was causing the fevers...that was the route we needed to take.

Ugh...I feel your anguish in all this. I hope you are able to get the perfect solution for your little one, and fast...

Last edited by Administrator; 08-27-2010 at 05:27 PM.

 
Old 06-16-2010, 06:12 AM   #12
Junior Member
(female)
 
Join Date: Jun 2010
Location: Virginia
Posts: 18
jenna*** HB User
Re: Is it PFAPA or another auto inflammatory disease?

28-35 days...... wow. I just looked at the calendar and Matty went 18, 25, 34, 20 days between episodes. I just don't understand why no one saw this before. I know this PFAPA is rare, but shouldn't SOMEONE have picked up on a connection? Initially it was "must be a virus, give it a week", then after a week it was "must be bacterial, here's some antibiotics", then after a 10 day dose, it was "must not be reacting to antibiotics, here's a different antibiotic". Meanwhile, everytime you go to the ER there are different doctors, each one saying "must be a virus, he'll get over it" and we're screaming "IT'S NOT A ***** VIRUS!!!!" but since we're the parents and not medical people, we MUST not know what we're talking about.

On another note, we're in the middle of a bankruptcy (and since we filed February 7th - BEFORE all this started we can't add these medical bills), so we have very limited funds right now. We've both taken so much time off work to care for Matt we're under threat of losing our jobs. I had to go on FMLA to prevent getting fired, which meant 3 weeks of no income. And every doctor's appointment there's another co-pay for them to tell me they have no clue what's wrong.

I guess I'm just so frustrated with these doctors sticking him with needles, doing more and more blood work with no answers, taking x-rays, EEGs, MRIs, etc and then releasing him from the hospital with still no answers, KNOWING we're gonna be back within a month with the same thing.

I have a "medical bag" along with the diaper bag for him now that goes everywhere he goes. It has liquid tylenol, liquid motrin, tylenol suppositories, oral diazepam, rectal diastat, rectal thermometer and ear thermometer. So far every seizure he's had, I've been right there to care for him. But I know one of these days he'll do it at daycare, or in the car, or somewhere I can't get him the diastat immediately and we'll have another incident like his first one when he got aspiration and almost died. I don't want to sit back and just wait for that day to come. It's hard to describe to people (family and such) what it's like to watch your baby go through such a tramatic experience. To hold them, trying to calm them down (without your body temperature raising theirs even higher), knowing there's nothing you can do to bring them "out of it". Every square inch of their body twitching in a rhythmic display of chaos. Holding their tight little balled up shaking fists, wondering if they can even feel you there. It's something I wouldn't wish on my worst enemy.

I've decided to contact the ENT that did his tubes in his ears (through all this he got an ear infection and we opted to go with tubes - anything to prevent future fevers) and see if he would be willing to do the tonsillectomy. I'll just go around these doctors if I have to and get things done myself. Hopefully I'll be coming back on this site many times raving at how wonderful it is that my baby is "cured" and helping others that are in my position now.

I'll keep you updated. ------and THANK YOU------

 
Old 06-25-2010, 07:54 AM   #13
Junior Member
(female)
 
Join Date: Jun 2010
Location: Virginia
Posts: 18
jenna*** HB User
Re: Is it PFAPA or another auto inflammatory disease?

****I NEED HELP****

Our pediatrician (has no experience with PFAPA) is wanting to wait for Matthew to have another episode before doing tonsillectomy. She wants to see if the Orapred works at bringing down and holding down his fever.

So last night his fever crept up to 100.8 so I went ahead and gave it to him. Sure enough, it brought it down and hasn't been back up since. (Little reminder, Matt also has febrile seizures, so fever spikes in him can be deadly). I called the pediatrician this morning to tell them the news and let's go forward with surgery like they said they would. Their response is, "he's fever didn't reach 101 and that's the point we need". SERIOUSLY??? They are refusing to do the tonsillectomy since they still don't have an absolute positive diagnosis of PFAPA since his fever was only 100.8 when I gave it to him instead of 101. We now have to wait another 3-4 weeks for it to happen again. Next time I might not get to it in time and he might have another seizure that lands him in PICU like he's done before. I'm not willing to take that chance!!!

DOES ANYONE HAVE THE NAME OF YOUR DOCTOR THAT DIAGNOSED PFAPA AND DID SURGERY QUICKLY ???

I'll drive him anywhere to get this done IMMEDIATELY. We are in the Virginia Beach, VA area, so if anyone is on the east coast, it would be preferred. I'm desperate to get his tonsils out ASAP so anything is helpful.

THANKS!!!!

Last edited by Administrator; 08-27-2010 at 05:25 PM.

 
Old 06-25-2010, 11:40 PM   #14
Junior Member
(female)
 
Join Date: Jul 2009
Posts: 10
beksmith HB User
Re: Is it PFAPA or another auto inflammatory disease?

Jenna,

After we moved to Phoenix, and I started reading info online about PFAPA, I read a very moving article written by an ENT doctor in Boston who's own daughter had the mysterious, cyclic fevers and he ended up finding out about PFAPA thru his own research and had her tonsils out. He now is well known all over the country for his work/research and treatment of PFAPA. I called his office and talked with his assistant about flying out to Boston to see him for consult and eventually surgery. They said they have people come from all over the country. But they also try to keep up to date on what area's have doctors that are starting to treat it and are familiar with it. We ended up finding an ENT doc here that was familiar and did the surgery, but we would of taken our son to Boston if need be.

We are in Phoenix, AZ and the doc we saw (awesome doc!!! Just did my other son's tonsils for a different reason) is Dr. John Raines. But Boston would be much closer to you, and that doc is ground breaking in treating PFAPA.

Last edited by Administrator; 08-27-2010 at 05:25 PM. Reason: no outside websites

 
Old 06-27-2010, 05:17 PM   #15
Junior Member
(female)
 
Join Date: Dec 2008
Location: Las Vegas, NV, USA
Posts: 15
Linden123 HB User
Re: Is it PFAPA or another auto inflammatory disease?

I too contacted Dr. Licamelli in Boston. In fact, it was his research that convinced my doctor that my daughter could have PFAPA. Boston Children's Hospital is world renowned for it's research. There was no way to know for sure if she had it but we did the surgery and it worked! My doctors are all in Las Vegas, but if you are interested I can post their info.

 
Closed Thread

Similar Threads
Thread Thread Starter Board Replies Last Post
Pfapa Syndrome KR1991 Rare Disorders 7 02-04-2011 01:15 PM
Possibly PFAPA syndrome? arrowrug Rare Disorders 0 10-18-2009 02:18 PM
PFAPA (periodic fever) omerbilhan Children's Health 9 05-10-2008 05:58 PM
2 year old diagnosed with PFAPA kmob1220 Rare Disorders 4 05-08-2008 07:56 PM
PFAPA (Periodic Fever Syndrome) gramstiles Rare Disorders 14 04-23-2008 07:26 AM




Thread Tools

Posting Rules
You may not post new threads
You may not post replies
You may not post attachments
You may not edit your posts

BB code is On
Smilies are On
[IMG] code is Off
HTML code is Off
Trackbacks are Off
Pingbacks are Off
Refbacks are Off




Join Our Newsletter

Stay healthy through tips curated by our health experts.

Whoops,

There was a problem adding your email Try again

Thank You

Your email has been added








TOP THANKED CONTRIBUTORS



chicabella (2), mustlovepoodles (2), golfhat (1), Emily Post (1), growagourd (1), Belly Kelly (1), 2outof3 (1)

Site Wide Totals

teteri66 (1136), MSJayhawk (941), Apollo123 (858), janewhite1 (823), Titchou (772), Gabriel (743), ladybud (667), sammy64 (666), midwest1 (655), BlueSkies14 (610)



All times are GMT -7. The time now is 03:33 AM.



Site owned and operated by HealthBoards.com™
Copyright and Terms of Use © 1998-2014 HealthBoards.comô All rights reserved.
Do not copy or redistribute in any form!