Dear NOMID egroup,

Thank you to all who have responded, and shared the phone number and info about
NIH. I contacted them, and they are definitely interested in seeing our son ,
Seth. Our doctors have are faxing them Seth's medical records, and so we will
be
booking our appointment soon. Janet Jones was very nice and helpful, and really
helped to explain the genetic mutation information to us.

They seem to think that Seth does have some form of NOMID, and it will be nice
to
see them in person, so we can get a full picture. All our doctors here seem to
not be sure, but his skin biopsy 2 years ago indicated findings that correlate
with NOMID, as well as his recent genetic test through Gene Dx that showed "a
G326E sequence change identified in exon 3 of the C1AS1 gene... the finding
...confirms the diagnosis of a cryopyrin-associated disease." NOMID appears to
be the most likely one, since we have no family history of the other syndromes,
and Seth's rash actually lessens after being in the cool air or swimming in
cool
water.

Does anyone else have detailed genetic mutation reports that tell specifically
what the mutation is, or is anyone else matching Seth's area of mutation?

I am so thankful that you all are willing to help us, and if there is anything I
can ever do for all of you, let me know! The NIH is hoping to see a lot more
children in the next few months, so they can develop a medical treatment
protocol
for new cytokine focused medications. Hopefully these medications will help the
children not have to take so much corticosteroids (at least that is the hope).
We have not had to use any of them yet, although it has been discussed, but we
plan to wait until it is absolutely necessary. Janet Jones at NIH said that
once
they develop the treatment protocols to use the new medicines, they will pay the
travel expenses for the families to return to NIH to get into the treatment
program, and for follow up, so the only time we will have to pay to go out is
this first visit. All of our doctors feel that it is worth it, and are very
excited that NIH is looking into these children's needs.

Best of luck, and I hope that through the research, answers and helpful
treatments will be found. We hope that by us going to NIH, that not only our
son, but others will be helped from the information that they gather. The NIH
really is looking for more children, and they are hoping that we will al spread
the word, since a lot of the doctors don't know about it yet.

Thanks again,

Karen Durrant