Dear tara,

You can all go to stay at the Childrens Inn as a family, or if you ant to only
go down
there with your daughter, that is ok too, if you can get help to take care of
teh older
ones at home!

I do think the elevated LP is significant to consider with NOMID, but was just
mentioning
the others to look at, as some of the symptoms can be similar yet different.
Some with
familial Mediterranean fever can have episodes aseptic menigitis during flares,
which is
another possibility, and they can have flares that come and go There is a
genetic test for
that, but it is more common than NOMID so I am sure your doctor has considered
it
already.

Believe it or not, but I met a doctor from Germany that is taking care of a set
of twins
with NOMID and TRAPS, what bad luck! Talk about a difficult diagnosis and
atypical! I
told him to please publish about these chidlren so more doctors can larn from
them, as
this is so unusual.

So, do not lose hope that you wil get answers, but do consider a trek down tothe
NIH, as
they are very familiar with all these disorders and can hep do the tests and
advise your
doctor. They have seen over 30-40 with various degrees of NOMID, FCAS and MWS,
and
many more with other disorders, so they have a depth of knowledge that is hard
to find
anywhere else.

Good luck!

Karen

--- In nomidsyndrome@yahoogroups.com, "charmingdelightfulandlovely"
<hardimac@...> wrote:
>
> Thank You, Colleen, Karen A, Lousie & Karen Durrant,for the welcome
> and notes.
> To answer the questions you asked, our little girl just turned 3 a few
> weeks ago. Prior to the LP showing ICP of 30 they had been planning to
> test her for TRAPS,but her rheumatologist now feels she has ruled
> herself out for that, HIDS, P-FAPA etc... he did say whatever she has
> she would be considered "atypical". She is still having daily
> headaches, she just started diamox, hopefully that will help. We live
> outside of Boston, so a road trip to the NIH would be manageable. When
> you have gone there, have you gone as a family? We have 3 other kids,
> the little guy is 6 months, 2 older ones are in school, so there are
> some logistical concerns, but I'm sure we will figure it out if it
> comes to that.
> I'll keep you posted when we hear anything, it is good to know you are
> here, hope all of your little ones are doing ok
> Thank You again!
>
>
>
> --- In nomidsyndrome@yahoogroups.com, "sfokaren2003"
> <sfokaren2003@> wrote:
> >
> > 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
> > >
> >
>