Re: FMF / NIH / Fran

[Guest guest]

Hello...

This is your call... But if asking my advice!!! <smile>

I am an advocate of NIH.... Simply because they are willing to try and see if

your child has a clinical case of something!!

How extensive were the genetic studies? Did they test for FMF, HIDs, TRAPS,

CIAS1 gene??

Just wondering.

As for tonsil surgery the outcome with kids who do not have tonsil involvement

is lower... Clinically has his presentation changed??? What symptoms are there

now??

Fran

Fran A Bulone

Mom To ph 7 yr

Waxhaw NC 28173

Owner of group

/

[Guest guest]

Hi - Good to see you here. I also check often, but don't write

very often. I wanted to tell you that I would encourage you to

pursue going to the NIH. Layla's fevers were sporadic and NIH still

accepted her in the study. As we have talked about, we didn't get

any answers and thankfully she has been doing very well (almost 9

months since her last fever, knock on wood, I'm still afraid somehow

I will jinx it by saying that!). But I'm still happy that we went

and I was encouraged that they told us if she starts fevering again

on a regular basis, to get a hold of them, either directly or

through our doctor, and they would discuss treatment options. So I

think its a wonderful connection to have and other than airfare, you

really have nothing to loose. It seems like they have been

accepting new patients fairly quickly and the wait to go has not

been very long.

Good luck and hang in there!

am

(mom to Layla, 2.75 - undiagnosed recurrent fevers)

> Hi all,

>

> I'm new to the group since last week, and after much reading I am

now

> looking

> into whether my daughter Lily (6) may be wrestling with Hids,

instead

> of Pfapa as our

> Rheumatology at Children's medical cntr. narrowed down three years

> ago. We ruled

> out cyclic neutropenia and JRA at the time but never did any

genetic

> testing because

> of the $, and because it didn't seem that it would change the way

we

> dealt with the

> episodes anyway.

>

> Is it correct that Hids will also respond to a single dose of

> Prednisolone? We tried it a second time

> last Week with Lily within a few hours of the fever symptoms

starting

> and by that evening she was

> feeling good and eating, and went to school the next day!

>

> Does anyone else w/a Pfapa diagnosis child find their episodes

being

> strongly influenced by stress, getting worn out or having a mild

> cold? Lily gets fevers roughly monthly but we did experience two

> months in a row last year without one, but usually it is a 3 1/2

to

> 5 1/2 week repeat, varying. I could never say, the 28th day is

> coming, here comes a fever, but I can completely predict one based

on

> stress and a couple nights of staying up late (even by an hour) I

> apologize if this has been covered in older posts.

>

> Does anyone have a rough idea of how much genetic testing could

cost

> (assuming insurance will not cover it) to try to narrow down the

> fever syndrome? I am waiting for calls back from Children's here

in

> Seattle before I contact NIH, although I am putting Lily on the

very

> long wait list for the current genetic study there. Does anyone

know

> of a good medical center for these issues on the West coast? I am

> also waiting on the full copy of her med. records so I can see all

> the results myself.

>

> Okay long email but thank you everyone for your experience and

> information, I am so glad to have found this group; it is giving

me

> new energy and hope to try to get help with this again.

>

> d Timblin

> mdefaye@...

>

>

[Guest guest]

Hi ! You need to go to NIH!! I'm not sure if they are still not accepting

kids under age 5 but you really should try.

PJ had his first FUO (fever of unknown origin) at 6 months of age. They were

very sporadic and irregular until the age of 5 years at which time they

developed into a regular monthly pattern. When the fevers first started at 6

months, he had no other symptoms that we could see besides a temp of 104 lasting

about 4 days. The episodes gradually changed to include severe belly pain and

joint pain. His lymph nodes on the side of his neck were always enlarged as

well.

He has never had any of the mouth ulcers that people talk about.

After age 5, while the episodes were regular, they also seemed to be triggered

by different things. A viral illness would always trigger an episode.

Now, at 13, I can't remember the last time he's had a cold, I know it's been

at least 5 years! He's never had the flu, never gotten strep throat! His only

real medical history besides the periodic fevers is that he had alot of ear

infections in infancy resulting in ear tubes at age 18 months which completely

stopped the ear infections plus he had a horrible case of chicken pox at 2 and

1/2 years of age. That's it! Oh, and he has hayfever, trees in the spring and

ragweed in the fall.

It was a very frustrating road, starting with that first fever at 6 months til

the time he was diagnosed by NIH at age 8 and 1/2 years. The thing was, doctor

after doctor always knew something was very wrong, they just could not figure

out what. At no point were we told, " well, just take him home, I'm sure it's

something he'll grow out of " . Worse, they saw that something was going on and

just gave up when they coudn't figure out what it was. It took our last

pediatrician just throwing up her arms and saying, " this child's problems are way

beyond my medical expertise " that led us to Childrens Hospital in DC and they in

turn immediately sent us to Dr. Kastner at NIH.

By the way, Dr. Kastner made me fire that pediatrician. He said that he would

no longer communicate with her or forward any of his results or information to

her. Why? Because when PJ would be having those horrible episodes, she did

nothing. He felt that it was her responsibility as a pysician, especially to a

child, to at least treat the symptoms, even if she didn't know what disease she

was treating.

Pat, mom to PJ, FMF, Virginia

__________________________________________________

[Guest guest]

Pat, I'm mom to a 9 year old who may have Pfapa. I'm

curious does PJ still get fevers at age 13 or has he

grown out of them?

thanks!

--- Bombardier <petish44@...> wrote:

> Hi ! You need to go to NIH!! I'm not sure if

> they are still not accepting kids under age 5 but

> you really should try.

>

> PJ had his first FUO (fever of unknown origin) at

> 6 months of age. They were very sporadic and

> irregular until the age of 5 years at which time

> they developed into a regular monthly pattern. When

> the fevers first started at 6 months, he had no

> other symptoms that we could see besides a temp of

> 104 lasting about 4 days. The episodes gradually

> changed to include severe belly pain and joint pain.

> His lymph nodes on the side of his neck were always

> enlarged as well.

> He has never had any of the mouth ulcers that

> people talk about.

>

> After age 5, while the episodes were regular, they

> also seemed to be triggered by different things. A

> viral illness would always trigger an episode.

>

> Now, at 13, I can't remember the last time he's

> had a cold, I know it's been at least 5 years! He's

> never had the flu, never gotten strep throat! His

> only real medical history besides the periodic

> fevers is that he had alot of ear infections in

> infancy resulting in ear tubes at age 18 months

> which completely stopped the ear infections plus he

> had a horrible case of chicken pox at 2 and 1/2

> years of age. That's it! Oh, and he has hayfever,

> trees in the spring and ragweed in the fall.

>

> It was a very frustrating road, starting with that

> first fever at 6 months til the time he was

> diagnosed by NIH at age 8 and 1/2 years. The thing

> was, doctor after doctor always knew something was

> very wrong, they just could not figure out what. At

> no point were we told, " well, just take him home,

> I'm sure it's something he'll grow out of " . Worse,

> they saw that something was going on and just gave

> up when they coudn't figure out what it was. It took

> our last pediatrician just throwing up her arms and

> saying, " this child's problems are way beyond my

> medical expertise " that led us to Childrens Hospital

> in DC and they in turn immediately sent us to Dr.

> Kastner at NIH.

>

> By the way, Dr. Kastner made me fire that

> pediatrician. He said that he would no longer

> communicate with her or forward any of his results

> or information to her. Why? Because when PJ would be

> having those horrible episodes, she did nothing. He

> felt that it was her responsibility as a pysician,

> especially to a child, to at least treat the

> symptoms, even if she didn't know what disease she

> was treating.

>

> Pat, mom to PJ, FMF, Virginia

>

> __________________________________________________

>

[Guest guest]

geeesh pat sounds like our hematologist that we are seeing. . that we were

referred to by the immunologist..

Seeing as we cant get there within the fever spell as kiara is too bad.. or she

is closed.. or her nurse.. says you cant get here on time.. and then since we

returned from NIH we havent been even contacted by her to see how it went. Nice

eh?

Im so freaking tired of this.

We are on our 3-4 month break from fevers but not the cycles. .. meaning we

cycle without the fe ver.

Good l uck.. we love NIH!

mom to Kiara awaiting genetics to come back

Re: FMF / NIH / Fran

Hi ! You need to go to NIH!! I'm not sure if they are still not accepting

kids under age 5 but you really should try.

PJ had his first FUO (fever of unknown origin) at 6 months of age. They were

very sporadic and irregular until the age of 5 years at which time they

developed into a regular monthly pattern. When the fevers first started at 6

months, he had no other symptoms that we could see besides a temp of 104 lasting

about 4 days. The episodes gradually changed to include severe belly pain and

joint pain. His lymph nodes on the side of his neck were always enlarged as

well.

He has never had any of the mouth ulcers that people talk about.

After age 5, while the episodes were regular, they also seemed to be triggered

by different things. A viral illness would always trigger an episode.

Now, at 13, I can't remember the last time he's had a cold, I know it's been

at least 5 years! He's never had the flu, never gotten strep throat! His only

real medical history besides the periodic fevers is that he had alot of ear

infections in infancy resulting in ear tubes at age 18 months which completely

stopped the ear infections plus he had a horrible case of chicken pox at 2 and

1/2 years of age. That's it! Oh, and he has hayfever, trees in the spring and

ragweed in the fall.

It was a very frustrating road, starting with that first fever at 6 months til

the time he was diagnosed by NIH at age 8 and 1/2 years. The thing was, doctor

after doctor always knew something was very wrong, they just could not figure

out what. At no point were we told, " well, just take him home, I'm sure it's

something he'll grow out of " . Worse, they saw that something was going on and

just gave up when they coudn't figure out what it was. It took our last

pediatrician just throwing up her arms and saying, " this child's problems are way

beyond my medical expertise " that led us to Childrens Hospital in DC and they in

turn immediately sent us to Dr. Kastner at NIH.

By the way, Dr. Kastner made me fire that pediatrician. He said that he would

no longer communicate with her or forward any of his results or information to

her. Why? Because when PJ would be having those horrible episodes, she did

nothing. He felt that it was her responsibility as a pysician, especially to a

child, to at least treat the symptoms, even if she didn't know what disease she

was treating.

Pat, mom to PJ, FMF, Virginia

__________________________________________________

[Guest guest]

Hi ! PJ has been diagnosed with clinical FMF. FMF is one of the genetic

disorders which means that while he may experience periods of remission, he will

never outgrow it. The " clinical " means that he has yet to be a match for any of

the known mutations so he has thus far always tested negative for the FMF

mutations but he has all the symptoms and responds positively to Colchicine so

NIH says that he does have FMF. Even on the Colchicine, he still has episodes,

just greatly reduced in severity.

Pat

__________________________________________________

[Guest guest]

Hi , that's how PJ is right now , cycling without the fever. Just nausea,

stomach aches and joint pain.

We've been dealing with this for so long that I don't have much tolerance

for some doctors anymore. If I don't get a good feeling about them at the first

visit, that's it, they don't get another chance. I'm not wasting my time on a

doctor who is not going to make a real effort to help PJ plus PJ is old enough

that I don't want him to see me accepting mediocre care for him. He has learned

to be very outspoken and straightforward when talking to docs and I want him to

know that he has the right to be his own advocate and not settle for less than

he needs.

At this point, after I shared a couple of stories about having been blown

off by local docs with Dr. Kastner, he told me not to even bother with them any

more. I can take PJ to NIH for anything FMF related at anyime. I am sooo lucky

to only be 45 minutes away from NIH!

Let us know as soon as your results are in!

Pat

__________________________________________________

[Guest guest]

Thank you all for your responses. I called NIH this morning and they will be

sending me the paper work. I guess I just needed confirmation that I am not

crazy, and that maybe there is more help out there for my son. Even if we are

not accepted to the study it would never hurt to ask, and if my son is out

growing the fever then the worst that could happen is we would be accepted and

he would stop having symptoms.

Anyways, I took him to the doctor again last night. The ID doc had said that

he would not be a canidate for a tonsilectomy becuase he did not present with

any sort of throat ailments. Last night he had horrendous breath and I got the

flashlight and looked down his throat and sure enough he had really swollen

tonsils with the white pock marks. They did a strep test but of couse it was

negative. They sent it to culture anyways. I was getting lax about taking him

to the doctors when he fevers, but I guess all the documentation I can get on

his symptoms will be beneficial in the future. Oddly enough I get more head way

with his regulare Pedi then the specialist at UCSF. So, I guess I will

continue to work with his current Pedi, and stop calling the specialist. I was

still so angry yesterday I wanted to call them and tell them off, but that would

really get us no where.

Thank you all for your encouragment. I guess we will wait and see about the

NIH.

Bombardier <petish44@...> wrote:

Hi , that's how PJ is right now , cycling without the fever.

Just nausea, stomach aches and joint pain.

We've been dealing with this for so long that I don't have much tolerance for

some doctors anymore. If I don't get a good feeling about them at the first

visit, that's it, they don't get another chance. I'm not wasting my time on a

doctor who is not going to make a real effort to help PJ plus PJ is old enough

that I don't want him to see me accepting mediocre care for him. He has learned

to be very outspoken and straightforward when talking to docs and I want him to

know that he has the right to be his own advocate and not settle for less than

he needs.

At this point, after I shared a couple of stories about having been blown off by

local docs with Dr. Kastner, he told me not to even bother with them any more. I

can take PJ to NIH for anything FMF related at anyime. I am sooo lucky to only

be 45 minutes away from NIH!

Let us know as soon as your results are in!

Pat

__________________________________________________

[Guest guest]

Hi Pat

here. What symptoms does PJ get? My lad Sam gets the fever and

occasional a mild tummy ache, but carries on eating and playing even when at 40

degrees.recently he gets a cough with it but he has never complained of a sore

throat, although once had mouth ulcers.He is growing normally. They want us to

try colchicine as he too has tested negative in the UK to known FMF mutations.

Does this sound like what your son goes through? Sam is 4.Cheers

Kaaren

Bombardier <petish44@...> wrote:

Hi ! PJ has been diagnosed with clinical FMF. FMF is one of the

genetic disorders which means that while he may experience periods of remission,

he will never outgrow it. The " clinical " means that he has yet to be a match for

any of the known mutations so he has thus far always tested negative for the FMF

mutations but he has all the symptoms and responds positively to Colchicine so

NIH says that he does have FMF. Even on the Colchicine, he still has episodes,

just greatly reduced in severity.

Pat

__________________________________________________

[Guest guest]

Hiya Fran

They say they tested for FMF, IgD, TRAPS ...I am not sure about HIDs or CIAS1,

nor do I know how many genes within each syndrome were tested. I am rrying to

find out at the moment.

He has never had a sore throat, and only once develped mouth and throat ulcers

during an episode. The fevers used to come every 10 to 15 or so days and last 3

to 5, peaking to 104+ on days 2 and 3. Even with drugs the fever would not drop

below 103 on peak days. He used to complain his tummy hurt during the fevers and

after them would still stay it hurt and he couldn't walk...so i would carry

him(!), so never sure if this was a ploy to get a free ride as when put down

would run off with friends and pain disappear! He was like that from July last

year. Now they have been less coming 4, 5 and recently 9 weeks apart. Fever only

goes to 103 (only!) and plays normaly even when this high. Also gets a cough

during and for a couple of days/week after it has gone. Has always eaten his

food as usual during attacks...am so confused...what do you think.....to me,

with little knowledge, he matches neither FMF or . Think he would do well

to have opinion from NIH as the US seems

so hot on this stuff, wheras it is virtually unknown here. What do you think?

Fran Bulone <fbulone@...> wrote:

Hello...

This is your call... But if asking my advice!!! <smile>

I am an advocate of NIH.... Simply because they are willing to try and see if

your child has a clinical case of something!!

How extensive were the genetic studies? Did they test for FMF, HIDs, TRAPS,

CIAS1 gene??

Just wondering.

As for tonsil surgery the outcome with kids who do not have tonsil involvement

is lower... Clinically has his presentation changed??? What symptoms are there

now??

Fran

Fran A Bulone

Mom To ph 7 yr

Waxhaw NC 28173

Owner of group

/