Dear Tara,

Welcome to the group, and I am sorry that your daughter has a rough few years.
It is
good to get genetic testing, and they can do all the periodic fevers at one
time, which
would save time, as it takes months sometimes to get the results. Also, fewer
tests on
your daughter if they can do it all at once. Since they just sent off the sample
last week,
ask if they can add on the other tests at Gene DX for your daughter off the
sample that
they sent.

However, not everyone will show the mutation for NOMID, but have clinical
symptoms and
respond to the medications, so it is more complex. I would highly recommend
getting
involved with the NIH sooner than later, if you can. Where do you live?

My name is Karen and I run The NOMID Alliance nomidalliance.net and we have an
informative brochure pdf online with a comparative chart for a few of these
syndromes. Go
to this link:http://www.nomidalliance.net/downloads/finalCAPSbrochure_web.pdf

There is a growing group of autoinflammatory syndromes that have periodic fevers
and
various symptoms besides NOMID and HIDS, and some in the group here with
children
that have yet to know for sure what they have, but the NIH is a great place to
go to have
some of the world's best figure out what is going on.

the important thing to remember is not everyone will show the mutation, and also
that you
can have NOMID or other Autoinflammatory syndormes and not have to have all the
charateristic symptoms listed. Many doctors are not aware of the new findings,
or the
spectrum of inflammation that can vary and overlap in some patients.

You may want to look through the website links area to read about TRAPS, PFAPA,
HIDS,
FMF and other syndromes too, to see how they compare to your daughter, as she
has
some features of various autoinflammatory conditions, besides NOMID, and it may
help
you to get more insight on things, and be able to explain things to the doctors
too.

call me anytime at 415-831-8782 or email me if you ever want to talk. We have
all been
down the long and challenging road of trying to get a diagnosis, and know how
hard it is.
For those with more complex or less "classic" symptoms, it can take longer too,
so don't
lose hope! The doctors at the NIH ae aware of all the rare autoinflammatory
syndromes,
and even some that are as yet not named or classified, so they would be the best
hope in
the US right now to help you find an answer.

I will be taking my son there again for care the last week of February, and we
go every 6
months, which is the usual plan for many of us, but some go more frequently.

Happy New Year and good luck!

Karen Durrant


--- In nomidsyndrome@yahoogroups.com, "charmingdelightfulandlovely"
<hardimac@...>
wrote:
>
> Hello,
> We just found you through the NOMID website. We are newly researching NOMID
and
> honestly some of it sounds a lot like what our little girl has been going
through.
> some clearly is "atypical" as we have been told her case would be. We are
hoping you
> might have some insight whether her story sounds like yours/ your children's,
and any
> wisdom and advice you might have for us regarding our daughter's care.
> J was healthy at delivery, jaundiced but came home 2 days later, our 3rd child
(now has
3
> brothers). She had a asthma/ reflux symptoms like her brothers and a few
unexplained
> fevers and hives over her 1st 2 years of life.
> Last March (she was 2) she started with high fever (104-105) over 5 days, with
huge
> lymph node swelling- this happened again in April and June.
> May, She had just a 1day fever.
> Her July fever was accompanied by headache and lymph node swelling to the
point
where
> she had a surgical lymph node removal/ biopsy as they were concerned she had
> lymphoma (biopsy was ok). August she had a 1-day fever at the same time her
brothers
> were sick. September and October fevers were about 3 days, with bad headache,
> particularly at night, with knee pain as well.
> Her November episode was just 2 weeks after the prior fever, and this was
preceded by
her
> morning announcement that her knees hurt her, fever started later in the day.
> Through November into December her headaches did not go away when the fever
left
her.
> November brain MRI fine except pineal cyst. December neurologist appt- ordered
LP
with
> next fever: LP showed increased intracranial pressure (30)- admitted to the
hospital for
5
> days. Rheumatologist did gene DX for NOMID on 12/22, we are waiting to hear.
> If that is negative, he will order gene DX for hyper IgG but feels that is
very unlikely. If
> they are both negative, he said we will "road trip" to the NIH.
> She is still getting headaches, may start Diamox by the end of this week.
> Her rheumatologist described the daily injections for NOMID as "one of the
miracles of
> modern rheumatology" in its dramatic improvements in the lives of the kids who
are
> treated; has this been your experience? He really did not give us a lot more
information
> than that, just to wait to hear back about the results, and call him with the
next fever.
We
> are also to page the neurologist with any worsening headache. We are trying to
gather
> information and prepare ourselves for what may be next without getting too far
ahead
of
> ourselves. Any thoughts or ideas would be most welcome and appreciated. Thank
you
very
> much for reading, and our best to you and your families.
> Tara
>