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new CAPS/MWS dx- many questions

lindseyod Message
21 Aug 2013, 07:14 PM

Hi All, I'm lindsey and my daughter M was just diagnosed with CAPS, specifically MWS (initially thought it was FCAS but the connection between cold exposure & her episodes just isn't there). She tested negative for the NLRP3 gene. We are going to do the full periodic fever syndrome panel at this point. Rashes have not been a frequent symptom of M but fevers have, she was having episodes every 23 days without fail for months and months then this pasted fall/winter they spaced out to 8-10 weeks and then to 16wks. Her episodes start with a low grade fever midmorning that climbs as the day progress and it then spikes between 8pm-12am usually quite high (105-106) tylenol is completely useless and motrin helps for only a short bit (less than an hr). She complains of joint pain and we believe headache- its hard to tell because she's only 2.5 yrs. She also presents with lots of vomiting, she was vomiting several times a week until a few months ago and now only vomits during an episode. I dont know if this is the normal presentation of MWS, it seems not to be. I struggle to really accept that MWS is what we are dealing with since she's not the typical presentation. She has many abormal labs: her ANA was a weak positive, she had h & l on her TBNK lymphocyte subset, her complements C3 & C4 were low, her Interleukin 1-beta has consistently been high. Also her CRP is high and her MVP is low. Her WBC is frequently high. I know that's a lot of very detailed info but i thought it was worth sharing. So far we have ruled out : virus (bc every dr for MONTHS told us she was just sick-- so frustrating!) then Lyme, TRAPPS, PFAPA, Cyclical Neuropenia, and Juv. R.A. THe dr felt because of her IL-1Beta that its CAPS though she isn't a text book presentation. We are supposed to start Ilaris soon to help prevent any hearing deterioration. as well as prevent amyloidosis. We currently live on a remote island off the coast of Alaska and this has made getting a diagnosis and treatment exceedingly difficult. She was seen at Seattle's Children's hospital. I am considering moving to either Boston or San Diego where she could be seen at Children's or Rady. basically what's the general consensus on treating a 2.5 yr old without a firmer diagnosis? Any input on any of this? I'm sort of at a loss. So really info/advice/whatever is more than welcomed!
nomidalliance Message
23 Aug 2013, 08:14 PM

Welcome LIndsey, I had posted but used a mobile device a few days ago, but it must not have actually posted! Sorry for that. There is another family in AK that has a child with CAPS, but they are near Anchorage. I can find out where they are going for care for you. There are patients that can have CAPS, but do not have the mutation found on the standard genetic testing for this disease. There are some new ways to test for somatic mosaicism for mutations for CAPS, but this is a specialized testing program that is done at the NIH, and a few other research centers worldwide. More info is on our website at: We have a helpful comparative chart of autoinflammatory diseases too: Vomiting with flares happens with a number of autoinflammatory diseases, and also there are some that have this that have CAPS too. On another note, your child's "clock work" flares may fit with some other conditions, and PFAPA does involve elevations of Il-1 beta. Here is an article to read about it: Does your child have chronic elevations of the CRP, ESR and other labs, or are they only elevated during flares? Has your child been tested for HIDS too? Take a look at the link for the comparative chart. We have a private patient group for autoinflammatory diseases at: that you may be interested in joining. We also have a CAPS only group too, but many are in both groups. also has a great CAPS community that we help to moderate too. Ilaris may help, but if you are not certain it is CAPS, it may be hard to get it approved with your insurance. Feel free to contact me at as well. Best regards, Karen Durrant
lindseyod Message
3 Dec 2013, 06:11 AM

Hi karen, Thanks for all the info, her CRP is consistently elevated so we are watching that, she also has protein in her urine pretty much all the time. We just did more blood work for IdG and urine for MVK testing. She has had 2 dose of Ilaris and has had episodes after each, the first was 2 weeks after the injection and the other only 4 days, they do not think its related to the medication but are concerned that the ilaris doesn't seem to be effective. Since she is talking more she's able to tell us her mouth, knee joints and stomach all hurt.I know the dr we saw in Seattle said that the Ilaris could be used a diagnostic tool, and so far it seems that its not supporting our current diagnosis of MWS. Sometimes i think its PFAPA but i'm not sure.. Has anyone worked with Dr Hal Hoffman? We think we might be moving from Kodiak to San Diego and are told we should see him.
nomidalliance Message
4 Dec 2013, 07:16 AM

Dear Lindsey, I know Dr Hoffman very well and he would be a good choice to see. He is one of our medical advisors, and he is excellent. Will your doctors do genetic testing for other autoinflammatory diseases? I think that this would be very helpful. I am sorry to hear that the ilaris is not helping her. If you are on facebook, I would like to invite you to join our private patient group for autoinflammatory diseases at: There are hundreds of patients there, and it would be a great place for support, since many have other autoinflammatory diseases besides CAPS. Good luck! Karen