Question Regarding NIH/unsure of our diagnosis

June 23, 2004

My husband and I have been doing a lot of reading in the file

section and the past posts and it is often suggested to contact

NIH. My question is, who should contact them and what level of

service do you contact them for? Is it suggested that everyone been

seen by NIH or would they just provide support and guidance to your

local doctors? Maybe a bit of both?

We've been thinking of this a lot the past few weeks. We are

becoming unsure of 's diagnosis. 's

doctors at Duke feel very strongly that he has . They

initially diagnosed him with in December and said that they

did not feel that the genetic testing was necessary. had

just been through 2 hospital stays and a ton of tests.

In February, we were admitted to the hospital again for 's

fever. His fever was VERY high and the weekend doctor at our ped

office didn't want to take any chances so he sent us to the ER

where we were admitted. At that time we saw a different ID

specialist. He very much doubted the diagnosis. He felt

strongly about HIDS and possibly FMF. He even photocopied his notes

that he was putting in the chart for us to keep.

Since then we've been seen at Duke a couple of times. We've

discussed the genetic tests but they suggested that we try the

prednisone a couple more times. Josh hasn't been responding to

the prednisone very well, it takes down the fever but the symptoms

remain. Also, his fevers began occurring more frequently. We have

another appointment at Duke in July. At our last appointment it was

agreed that we'd see how did in the mean time and if all

is still the same, we'd do the genetic tests then. After reading

about the genetic disorders I really feel that needs to be

tested. His fevers last 3 – 7 days and do not always have a

predictable pattern. He also has a lot of vomiting with his

episodes. He also cries in like he his in pain, but since he is not

talking, I don't know where.

Thanks for listening; I know this was really long. We've been

wondering about NIH, if we should contact them for , and what

type of results/benefits we would see that we wouldn't see from

our local doctors.

Thank you,

(19 months, )

(5 months)

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