Back from NIH

[Guest guest]

Hello,

Breana was back at NIH yesterday. Dr. KAstner feels pretty good about her

response to the Enbrel. Our biggest problem as far as pain management is the

leg pain and the ulcers. We are increasing the Enbrel as she is not at the max

dose. Worth hope it will help leg pain. We are also 2 weeks after that

increase putting her back on Colchicine. This will be for the ulcers. Dr. K.

was saying that Colchicines has been good at treating the ulcers plus it has

been around a lot longer than another medicine he(and her BCH Doc's) had

mentioned!

We will be going back in January/February and then every 6 months. Breana is

now in the study so if we loose the compassionate use thru the maker of Enbrel

we will have NIH for the meds! THANK GOD!!!!!!

As far as the neru issue we have been dealing with again like every thing

else....we have no idea if it will happen again. What we do know is that if we

see signs of it happening we give her Prednisone right away and get to the ER!

So while we may not have left with answers(I knew we would not) we have more

options!

Is there anyone who is going to clinic in January/Feb?

Oh before I forget we went to the National Zoo on Monday! It was awesome!!!!!!

Breana had a great time!

I recommend it to anyone. Also we took the Metro(subway) from NIH to the zoo .

The Metro was so clean it was great.....the zoo is a short walk from the stop!

And unlike here the subway is air contioned!!!!!!!!

mom to breana 4 years

15

[Guest guest]

Hi , so glad we got to meet!!! Fondly, Lori

--- nchad1967 <nancy.chad@...> wrote:

> My husband, son and I just returned from our second

> appointment at

> the NIH on Tuesday, July 18th. We met with a fellow

> (different

> fellow than our first visit) and then met with Dr.

> Kastner, Dr.

> Barron and the group of " team doctors " for about 20

> or so minutes.

> Then they gave me a " life time supply " of Orapred to

> take home. (I

> am not kidding, this bottle is huge!)

>

> The purpose of my email is to stress the importance

> of the genetic

> tests for FMF, HIDS, TRAPS, etc.

>

> Jonah's story is not unlike many of your children -

> he started with

> monthly high fevers around 1, accompanied by spots

> on his tonsils

> and swollen lymphnodes. Then when he got a little

> older, he

> occasionally (about every fifth fever)complained

> about canker sores

> inside his mouth. Also - when I administered

> between one half to

> one teaspoon of Orapred at the onset of a fever, the

> fever was gone

> within one hour and did not return for weeks. There

> is more, he

> never had a complaint of stomach pain, joint pain,

> muscle aches,

> painful rashes or vomiting. So we (the doctors in

> Tampa) thought how

> could it be anything else - this is classic .

> No need to

> test. As time went on - he fevered less and it

> appeared he was

> outgrowing it by his fifth birthday. it was!

>

> Well, last November (2005), despite being fairly

> satisifed with the

> diagonsis, I applied for the NIH study. I

> figured why not -

> what's the harm? Best doctors - my son deserved

> that. We had our

> first appointment in January 2006 and the doctors

> were pretty

> convinced that he had , but tested him for FMF,

> HIDS and

> TRAPS.

>

> I never was called with the test results, but we

> were going back in

> July for a follow-up appt. So I figured I would find

> out when we got

> there. Two days before we left on July 13th, I

> received a call from

> one of the doctors to tell me that the test for

> TRAPS came back

> positive. Talk about shock . . . how could this be

> - he does not

> have any symptoms associated with TRAPS? I could

> not understand how

> this could be.

>

> When we met with Dr. Kastner, Dr. Barron, ect. on

> Tuesday, they

> explained that TRAPS can range from mild to severe

> depending on the

> mutation involved. (I do not know if this applies to

> FMF or HIDS, as

> I did not ask since it was not applicable to our

> situation).

>

> Since Jonah falls on the mildest side of this

> " condition " that is

> why his symptoms haven't involved joints, muscles,

> stomach, etc. But

> the doctors don't know if the symptoms will change

> over the years -

> meaning better or worse. This is something they are

> researching in

> this study. As for now, things are quite mild and

> we have had long

> breaks - up to nine months at one time. But fevers

> are never far

> from my mind.

>

> So the point of my long email - just because it

> looks like and

> acts like - it may not be . Jonah is

> living proof . . .

>

> Altough our plan going forward has not changed - we

> are treating

> with Orapred as we always have been - 1 tsp at the

> onset of fever

> and never more. The difference with this diagnosis

> is if things

> change over the years (get worse, more symptoms),

> then we know why

> and can start a new course of action immediately.

>

> I hope this helps those pondering the benefits of

> testing.

>

> Thanks. in Tampa

>

>

>

>

>

>

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