Hello, My daughter (19 months) has been running fever for 7 months and we have tested her up and down. We did the periodic fever syndrome panel and it showed mutation in the location that MWS has but no one has diagnosed her. I am trying to get resources and answers. I think I have read my share of google sites on the subject. I was so happy to see this community. Our rheumatologist is still running tests before we see a specialist. How rare is this syndrome? Becca

It is really rare; I'm on this list because I have ONE patient with it. The positive mutation would seem to indicate she has it, as it is an autosomal dominant. There is someone at NIH with an interest in this. Has yoru rheumatologist even "consulted Dr. Google" for you yet??

My Rheumatologist is consulting someone, I am not sure the name. We have not talked to a specialist yet. Her symptoms are not classic for MWS. Her dad also was sick as a kid and in his early 20s had hearing loss, so I would like guidance to help him too.

Also her mutation is at the site of MWS mutation but not one already reported with MWS.

If the mutation results in an amino acid change, it is potentially going to cause problems with the gene's protien product. There are quite a few different mutations reported with this gene, I'm not sure if it has a "hot spot" (where most mutations occur) or not, and even if it does, we often see folks with mutations not previously reported who clearly have the condition or a close variant of it. Here is one good medical reference to start from: http://omim.org/entry/606416. I hope his is helpful to you and your doc(s)!

Thank you. That is a great medical reference. Her genetic testing does report nucleotide substitution resulting in replacement at the amino acid position. Who is the person at NIH with the interest in this area?

There is a lady in this community, KarenD (Durant) who has lots more information on NIH efforts and medications used for this. Have you been to http://www.nomidalliance.org/connect_links.php yet? or http://www.rareconnect.org/en/community/caps/forum/topic/canakinumab-ilaris-muckle-wells? Also, clinical trial is open - check that out at http://www.clinicaltrials.gov/ct2/show/NCT01302860?term=Cryopyrin+associated+periodic+syndrome&rank=3

Thank you. I have been checking out the sites.

Thank you vstefans and blmielke! Sorry that I did not see this posting sooner. Thank you for contacting me by email Becca. This syndrome is considered very rare, with a chance of having a spontaneous mutation for CAPS at odds of 1:1 million! There are people that have inherited it from their parents, so there are some larger family groups with it. Once you have the gene mutation , it is a 50/50 chance that it will be passed on to your children. We have more info on our website www.nomidalliance.org and a downloadable CAPS guidebook, and other resources. I am mailing some to you Becca this week. Thanks, Karen