Wednesday, January 28, 2009

A watched pot

My first born, now 7 years old has a rare autoimmune disorder that gives him periodic fevers. He has been suffering with high fevers up to 105F every 2-4 weeks since he was 4 months old. He was finally diagnosed with PFAPA at 4 years old (google it if you are really curious, but I can't find any proper info on it at the moment in regular people's language...I used to have a fantastic link to descriptions of the periodic fevers, but lost it 2 hard drives ago). Anyway, don't want to bore you with the burdens this has brought our family over the years. Two years ago we decided to fly to MD to see the PFAPA experts at the National Institute of Health. They took loads of blood and tested him for all the known genetic disorders. There is not a test for actual's more of a label for kids with periodic fevers with no genetic mutations and it's a clinical diagnosis. The NIH has ongoing research on this disorder and we finished up with our contribution last year with some labs drawn during a fever locally and sent to them. Well a couple of weeks ago I received a call from the fellow working on the research about a new medication to try. Right now we control his fever episodes often with a dose of prednisone. A small dose removes his fevers and all other symptoms in 3 hours and we resume normal life usually. So to make a long story somewhat short, they want to fly us up to MD with his next fever. He's had 2 in the last 2 weeks. He should be getting his next fever in the next few days. So we have been kinda sitting around waiting for his fever to quickly pack and hop on a plane. I was half packed Tues night. But no fever yet. He'll likely get one Friday and then we will have to wait for the next to go as they can't see us on the weekend.

I've been kinda pacing around. Trying to get the house clean, laundry done. LOTS of projects to work on, but have found it hard to do any with this distraction. Now that it's looking like we won't be headed to MD this week, I was able to let myself cut some fabric last night. And I have a whole pile of legwarmers to make...Kalla wants some to match her shirt.


kim said...

Glad they are making some headway with it! I think I remember when you were trying to get him diagnosed (either that, or some other BW has a LO who gets fevers)--I didn't know you'd ever found an answer.

Will you take all the kids with you? I can only imagine how hard it must be to pack up a family for a spur-of-the-moment trip. I usually take several days!

Deanna said...

It was prob me about 3-3.5 years ago. I did post about his fevers. Just me and him going I think. Hubby wants to go, but has a business trip he has to leave for Sun night and will be gone most the week. If his fever came yesterday or today, we have hubby's mom on stand by to drive down to watch the other 3. Last time we went we all went (I was pg with Maressa). This time they are paying, but just for 2 of us. :)

Katherine said...

What an odd disorder. I am so glad you have found a Dr. who is willing to pay to fly you out so they can try to get to the bottom of this disorder. I did google it, and I am glad to see the kids do not feel sick when the fever occurs.

I know all to well the stress and strain any disorder a child has can put on a family. We are dealing with several issues with my 5 yr old Devin.

I will keep you in my thoughts and hope and pray they will be able to figure this out :)

Lou said...

Really hope you get to the bottom of it soon; it must be so frustrating not knowing what causes it.

I am however glad to see that the fevers aren't affecting that beautiful happy grin of his!

Peppermom said...

Been thinking about you. Knew something was up when you didn't post regularlly!

I remember seeing you post about this on BW too. Hope you are able to make the trip soon and everything goes smoothly!

Brenda said...

Hi Deanna,
Tim worked at the NIH for a year before we came here. I temped there myself for about 2 months. It's a nice area to visit- you wouldn't want to live there. (At least I didn't!) If you go to the Clinical Center (which I think you may??) that is the building Tim (and I) worked in. There were always alot of kids around there with strange disorders that will make you thankful. Good luck!

Deanna said...

Thanks everyone! :)

Brenda we've been there once before and the Children's Inn where we stay is AMAZING! The doctor said we will likely come to the clinic...probably where we went last time. The sad thing was seeing all the kids with brain tumors there. We met a couple whose 6 year old son was there trying new things for his brain tumor from Madison. We got news several months later of his passing. :(

Deanna said...

Katherine, yes it's an odd disorder. The kids do NOT present any 'symptoms' of regular illnesses, like the cold or flu. But they do feel miserable. Z won't eat the whole episode, has bad tummy aches, headaches, body aches and occasionally joint pain in his legs that makes him limp...once at 2.5 years he stopped walking completely. It's not a sickness, but lots of inflammation in his body at the time of the fever. Some are milder than others. Luckily with the prednisone therapy, we don't have to deal with them as badly as we did the first 4 years. :) He's supposed to outgrow this one day.....

Stacy C. said...

Deanna, My son Will is 11 and has been having periodic fevers for a while now. We finally took him to an infectious disease specialist at the childrens hospital and their best guess is pfapa. I'm curious about what you might have learned on your trip and interested in meeting other moms who just might be as tired as me. If you have any helpful information I would love to hear from you. I just created a blog on blogspot although I haven't posted on it yet. I thought it might be a way to connect with more people who are going through this.


Deanna said...

I will be glad to tell you about our trip. Feel free to email me at

Also, there is a periodic fever group on facebook as well.


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