Dear Everyone, but especially the new families,

I think it is so wonderful to see the response of our
group for these new families! Also, such a good thing
that babies are getting diagnosed early. I know it is
hard to face what you may have heard or read about
NOMID, but much is pre-Anakinra. The opportunities
for these children are much better now, with this new
drug.

I have a 5 1/2 year old with NOMID, and at 8-9 months
of age he started having fevers, with rash flare ups,
and vomiting bile at times and it started in the early
morning hours. He had the rash since his first week
of life, but it was mild in the NICU, and they thought
it was related to the antibiotics, etc. Seth is a
milder form of NOMID, but he had some various
complications very early, including the pericardial
effusion at 13 months, but the diagnosis did not
officially come until he was 3 1/2 yrs. due to genetic
testing.

At 2 the dermatologist thought it was NOMID by his
skin biopsy (She was an expert on NOMID skin biopsy,
so we thought maybe she was looking for something)
but he did not show bony changes, or obvious eye and
hearing stuff on the baseline exams. At the NIH, he
had more thorough exams, and we found he had mild
forms of these affects.

Seth did not walk until 16 months, and wasa bit slower
with gross motor things, but he wasa preemie 33 1/2
wks, then had a lot of blood qand weight loss due to
the pericardial effusion, (and anemia due to the
syndrome in general), so we thought he was just low on
energy. He stopped growing for periods of 6-8 months
around that time, and again around 2 1/2, when his
symptoms got much worse. He did stop walking on his
right leg at 2, but they thought it was a post viral
thing, and it did get better after taking some Motirn
for 3 weeks. Now, we know what he was suffering from,
and I so wish we had him diagnosed earlier!

Seth has some food allergies, which were diagnosed at
15 months, so that further complicated his getting to
a diagnosis, and we did elimination diets, etc. I
started to think maybe it was my milk or something, so
I weaned him at 16 months, but of course it wasn't me!
He is allergic to eggs, and mildly to milk products.


I remember first finding out about NOMID, when the
dermatologist brought it up when Seth was almost 2,
and it was a lot of sleepless nights of worry. Now,
there are so more stories out there from families, and
the NOMID home page has a lot (thanks to the Bartons!)
and that is helpful. When I first looked at the home
page, it was so new, and there were only a few
families. then, when Seth was diagnosed, there were
so much more, and that was helpful.

There is so much more that can be done for these
children, and your children's early diagnosis will
make a huge difference in their life! Seth is
fortunate to have started the Anakinra at 4 yrs of
age, and we hope that he may avoid the progression of
symptoms from this syndrome. He started growing
again, within the first month on the drug, which had
not happenned in over 15 months prior to it! The rash
went away within the first 24 hours on the medication,
and he was able to wlak through the airport on his
own, going home, which before he had to be in a
stroller because of fatigue and joint pain and
headaches, etc.

Not everyone has the fortune of such improvement with
Anakinra, but the younger the child is, the hope is
that more problems can be prevented. Seth's
papilledema and some hearing issues are reversing, and
his labs are quite normal, except he still has high
platelets. He has still had symptoms, such as some
morning fevers, headaches ,and joint pain on some
days, but nothing like before, and he quickly caught
up and is doing well in Kindergarten. We have had to
go to higher doses of the medication, and I hope this
helps, but he is still having some of these troubles.
He has speech therapy, and orthotics in his shoes (not
seen on the outside) to help him out, but no one would
guess what it was like for him just a year ago.

I hope this gives you encouragement, and more hope at
this time. My heart goes out to you all, I remember
how it was for us! I am so thankful for the internet,
and the Bartons efforts with the NOMID home page. I
have not posted Seth's story yet, mostly because Seth
is the subject of a few case studies that are being
published and presented in the next few months , and
the doctors wanted to maintain the confidentialilty
(of course my writing here is probably going to blow
it!). I am so glad that the word is getting out to
dermaologists, and allergists through these doctors,
in addition to what is being done with the NIH, and
rheumatology.

I think that the more doctors that hear of this
syndrome, the sooner the diagnosis will happen, and
treatment. Although it is hard to get news of the
syndrome, the not knowing is far worse.

Before knowing what Seth had, we had been trying many
things, and many suggested herbal, alternative stuff
too. I have not delved into it much, since we got
hooked up with the NIH soon after the diagnosis, but
do try to do a lot with nutrition, to boost Seth's
odds. I think it has helped, but I cannot prove
anything.

Believe me, knowing what Seth has really was settling,
even though it was hard to get the facts about NOMID.
At least you finally knew what it was! We heard
everything, from toxic mold, to meat, to not eating
enough organic foods, etc. The mom guilt from people
was huge! You can really go crazy with worry, and
trying so many things, to no avail. It was better to
get the diagnosis, and get proactive in the right
direction, and not have to tell people "We do not know
why he is this way" anymore, and people stopped giving
suggestions all the time. I felt better knowing I was
not failing, or making him sick in some way, but
foods, or living quaters, or whatever.

Please call me if needed, or e-mail directly for
anything. Anyone is welcome too! My number is
415-831-8782, and my e-mail is sfokaren2003@....


Best of luck to you all. I also hope that the Bartons
are having a good visit in DC and the NIH. I hope he
can feel better. Thanks for the e-mail, Barton
family! You all are amazing! Jan, so are you too,
and Zachary, and the Leiffers. Congratulations of your
grandbaby! I am sure Alice is thrilled to be an aunt
too! I am so glad that Alice and Zachary are doing so
much better. It is too bad that Anakinra didn;t come
out sooner for them to get it at a young are too. I
think of them,and the other families that have been
the real pioneers for the future children with NOMID.
I really do put you in a class with the explorers,
astronauts and heros of the past, that through their
efforts, we are at a better place today. Thank you
sincerely!

Karen Durrant




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