NIH - possible TRAPS diagnosis

August 5, 2004

Debbie,

Do you know has Dr. Kastner actually seen alot of cases in adolescence

where the kids did outgrow this? Sometimes I feel so cynical about what the

professionals say...... I hope I am not just getting a bad attitude which is

highly possible at this point....... Kathleen is about to start K-5 and I am

just

feeling like she will be able to do it without missing too many days because

of this stuff........ughhhh.....

Amy, mom to 5 y/0 Kathleen

August 5, 2004

Hello all! I have posted a few times before and read the posts

regularly. We were also at NIH on Tuesday for our first appointment

with Dr. Kastner. Our daughter, Gracie, was diagnosed with

when she was two but she didn't really fit the profile. She just

had the fevers but she did respond to Prednisone. At our

appointment we learned that Dr. Kastner would not consider Gracie as

having . If she has a genetic disorder, she probably has TRAPS

with the most common mutation which can just cause fever with no

other symptoms. TRAPS is also the genetic disorder which sometimes

responds to Prednisone. They took blood and are going to conduct

all of the genetic tests (TRAPS, HIDS, and FMF). If she does not

have a mutation, then we are back to the beginning - not truly

and not knowing if she will outgrow the fevers. Luckily we do know

that she responds to the Prednisone and we are in the second month

of a Cimetidine trial. He also mentioned that in his experience,

is outgrown by adolesence NOT by early elementary as we were

told when Gracie was 2 - just thought I would share that bit of info

(Gracie starts 1st grade next week and we had been told it should be

over by first grade - I guess we can stop holding our breath :-) ).

If anyone has questions, please feel free to contact us -

tomj_debj@.... Best of luck to everyone and we hope you are

fever free today!

Debbie

Mom to Gracie 5.5 (TRAPS???)

TJ (4.2)

Raleigh, NC

August 5, 2004

Amy,

Dr. Kastner said (I'm not sure I have the exact phrasing but it is

close) that " most children will outgrow the fevers BY

adolesence " which seems consistent with what Fran just posted about

6-8 years after onset. For Gracie her onset was just before 2 years

old and on the outside she would then be expected to fever until

around 10 years old. When I mentioned that we had been told early

elementary age, Dr. Kastner said we must have seen an optimist. I

guess it was nice to have hope but reality would have been better.

We were also glad to have the genetic tests even though we are

fairly well managed with the Prednisone. Since there is a small

chance of secondary problems with TRAPS (1% of TRAPS develops

problems) if Gracie comes back positive, she will need to have an

extra test once a year.

In terms of Kathleen, we found it very helpful to educate Gracie's

teachers about her periodic fever and if she started a fever in

school, we worked together to determine what was best. If the fever

was low and didn't bother her much she continued in classes - if it

went high, I would come and give her the Prednisone and if it was

early enough in the day, she could continue after it worked. We

also had a letter in her file about the fevers from our ID

explaining that she is not contagious during her fever cycles. She

only missed about a day and a half last year since luckily her

cycles were mostly starting on Friday afternoons.

Last note - We have found our Drs. to be playing the odds as trying

to group Gracie into what is " most likely " first but since we have

educated ourselves through lots of reading of medical papers (with a

medical dictionary handy), I know a lot of the right questions to

ask so that they don't feel " challenged " but they also will look

forward. For parents, I believe persistence is the key! I guess

the best lesson for me was when one of our Peds reminded me that Drs

are people too and medicine is not an exact science (I am an

engineer so this was a good reminder!). Best of luck!

Debbie

Mom to Gracie 5.5 (TRAPS?)

and TJ 4.2

Raleigh, NC

> Debbie,

> Do you know has Dr. Kastner actually seen alot of cases in

adolescence

> where the kids did outgrow this? Sometimes I feel so cynical

about what the

> professionals say...... I hope I am not just getting a bad

attitude which is

> highly possible at this point....... Kathleen is about to start K-

5 and I am just

> feeling like she will be able to do it without missing too many

days because

> of this stuff........ughhhh.....

> Amy, mom to 5 y/0 Kathleen

>

August 5, 2004