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Thank you so much for the advice. I've left one message today, but

will definitely keep trying. The tests were done at Gene

Dx, so at least that is a start. We have another baby on the way as

well, so I'm even more eager to figure out if this is a genetic

condition. She doesn't seem to quite fit the typical description of

FMF, but at this point she isn't fitting the typical desciption of

any condition, so I guess anything is possible. And she's been on so

many different medications, its hard to tell what her symptoms would

be if she wasn't on anything.

Again, thanks for the advice - its so helpful to hear from others who

have had similar experiences!

am

(mom to Layla, 19 months)

> > >

> > > Fran, I have a question for you (or anyone else) regarding

NIH. My

> > > 19 month old daughter has been having fevers on and off for

almost a

> > > year now. Originally, they thought it may be , but then

she had

> > > a really bad fever which did not improve, and so they started

> > > thinking it may be systemic onset JRA. But she has not yet

shown any

> > > arthritis symptoms, as far as we can tell (she's only 19

months, so

> > > too young to tell us if she hurts). Anyhow, we just found out

> > > yesterday that she has tested positive for one FMF gene

mutation.

> > > They need to find 2 mutations to diagnose, but since they don't

know

> > > all of the mutatations at this point, they said the test

results were

> > > inconclusive. Our doctors are not convinced that its FMF based

on

> > > her symptoms (she's never had vomiting or digestive issues

during an

> > > episode). We are going to try out the FMF medication to see if

she

> > > reacts. But I'm wondering if Dr. Kastner sees patients outside

of

> > > the study? I know she is not old enough for the study, but I'm

> > > wondering if there is a specialist that can give us more

insight. We

> > > are seeing Rheumatology and Infectious Disease specialists at

> > > Stanford - great doctors, but they don't have the same level of

> > > experience with FMF as someone like Dr. Kastner would. Anyhow,

I'd

> > > appreciate any advice that you may have.

> > >

> > > Thanks for your help!

> > > am Norton

> > > (mom to Layla, 19 months)

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