Hello. My name is Regina and I am 29 yrs. old. I have a 3yr. old son and a 3 month old daughter. Since the very night my son was born he spiked a fever, had a rash on his chest armpits and back and has had horrible GI troubles. Projective vomitting from day 2 of life along with intestines ripping and he had green stool with tons of visible blood. He would often times pass bloodclots when I went to change his diaper. He screamed in agony for 6 months while I ran from doctor to doctor. Each one told me that my breastmilk was doing this to him and I had to put him on Elecare a medical food. I then went on an extreme hypoallergenic diet of no dairy, soy, wheat/gluten, nuts and corn from the time he was 6 months till about 18 months. The green stool and blood cleared up and the intestines healed along with the vomitting. But the intense fevers never did. at 6 months he stopped growing, lost weight and became extremely weak and fragile. He will spike a 106 fever out of nowhere and get lethargic, cold chills a rash on back, chest and butt cheeks, cant open his eyes and in pain. Tylenol won't touch the fever, but Ibprofin will bring it down to about 102, but in 3 hourse its right back to 106. I finally found a general pediatrician who listened to me. He immediately ordered the Gene DX periodic fever syndrome panel and 11 weeks later it showed Muckle Wells Syndrome. He said the numbers were low, but there. I am calling first thing in the morning to a genetic doctor at Akron Children's Hospital. I'm lost. I don't know what to think. I'm absolutely in shock and I would love for someone to help steer me in the right direction. Thank you for reading my post.

Not sure of location. Feel free to call me 270-334-3215. My son also has diagnosis and I can direct u to great support team:: check out StopCAIDnow.org. Email for myself is tara366@hotmail.com

Thank you I wil look at that information. I am in Ohio. I have an apt. with a genetic doc on Oct. 14 and an apt. with a pediatric rh. and immun. doc from Cleveland Clinic on Sept. 28. I hope we r somewhat in the right direction. I will get back with you hopefully this week. Still trying to digest some of this.

You are absouletly heading in the right Direction!! We just saw dr there about a month back. He has support of stopCAIDnow CEO, Lisa Moreno Dickinson. You can also find stopcaid page on Facebook. Lisa has her own page to that u can send request too!! Her work is soooo amazing and dedication to CAID is unbelievable. Know u aren't alone and the medication to treat MWS is great!!!

Hi Regina, You are definately not alone, and we understand how it feels to get this sort of news. It is hard to get such a diagnosis, even if it is somewhat good to finally know what to call it all! Your story sounds a lot like my son's and he had a lot of issues with toxic acid green stools as an infant that would not stop, and seemed to burn his bottom. I had to "frost" his bottom with every diaper change to try to keep him from more suffering. He also had the fevers, rash, anemia, joint pains, and stopped growing for a long time. Luckily with the right doctors and medicines he is doing very well now. Thanks for calling us at The NOMID Alliance this morning. It was great to talk to you, and I have some information to send to you. I just left you a message on your phone so we can talk more about some options. There are few other patients that have GI issues along with CAPS, and more research is needed. I am glad that you have reached out to all of us, and we are here to help. Best of luck, Karen Durrant

I feel such comfort knowing that you guys are literally ready to hold my hand through this process. I will keep updating our situation so that those of you who have had much experience navigating through this will be able to share your knowledge with me. Dr. Spalding apt. is next week on the 28th and I'm very excited to meet him and get things going. 330-401-8770 is my cell and the best way to get ahold of me! thanks again

Regina, I am so glad that you got an appointment so soon with Dr Spaulding! I have heard good things about him, and he also knows the doctors at the NIH too. Glad you found his number today, I was going to send it to you but you got it done! Things got a bit crazy here. Good job. I will call you tomorrow. I had to get off from my work early today, because my youngest was at preschool and developed a severe allergic reaction (likely to his antibiotic he had been on for a few days for his illness.) I had already been at the doctors that morning with my son that has NOMID for his injection of Ilaris and labs, then went to work (in the hospital). My little one is doing better now, after some big doses of antihistamines and other stuff, and I am so glad I could get to be with him. I am a peds RN and when I got the call, I wanted to be there for my little guy! Anyways, once things get settled down here, I will call tomorrow morning. You have my number, and can call me anytime! 415-831-8782. Karen Durrant

So glad Dr. Spalding is who u r seeing!!! That is who we saw!! U will be put at ease after appt. With him. Make sure and write down every question you have!! Also try and take any "diary" of his past/present symptoms and date of onset!!! Can't wait for report!!! Best wishes!!! Tara

awesome...thanks. I have been working on my list of things! I will keep you guys updated.

Regina, I sent you an email with all the stuff we were talking about, and some other references. Keep us posted on how the visit goes! We will be thinking of you next week. Karen Durrant NOMID Alliance

Hi Regina, My children are around the same age, my daughter is almost three and my son is five months old. My daughter has MWS and was diagnosed at 18 months after I was diagnosed (a very late diagnosis at 35). My son didn't inherit MWS. We also have flares with GI issues. My daughter had one yesterday - she woke up vomiting and had a headache. As a family we called it 'waking up cold' and typically there was little rash, but nausea, vomiting, abdominal pain and headache that cleared up over a day. My whole family have MWS. I don't know if it's much help to know but we didn't know any better and have lived our lives around it - married, got university degrees, had kids, travelled etc etc. My specialist did seem a little surprised that it hadn't held us back all that much. Good luck with the appointment. It sounds like you are in good hands. We are not treating my daughter at the moment and are waiting until she is older but she is having six monthly eye and hearing checks to check that things aren't deteriorating.

Thank you all for sharing. Jarin has had the worst 2 weeks ever right now. He has stomach ulcers and mouth ulcers and he is having severe autistic behaviors. I am watching him slowly slip away from me. I am noticing definite hearing issues and yesterday I started him back on a diet free from dairy, soy, wheat/gluten and corn diet. This really healed his gut when we were nursing and I am currently on this diet for my 4 month old girl. He is banging his head off of things, clenching his jaw and his whole body is shaking in tension. So many things right now. I'm so scared. I know I'm getting in quick to see Spalding, but it is unbearable to wait. My husband and I are really struggling watching Jarin this way. I know that the ulcers in his stomach are leaking the allergen foods to his bloodstream and the chemicals are going to his brain. I hope I can reverse this as I did once before. It had never gotten this severe though. I thought he was ok. He was eating normal food...but he got so worse.

Regina, I am so sorry to hear he is even worse than when we talked just a few days ago! Does he have bloody or dark poop? If so, get him to the doctor right away. I would call your regular doctor too about this, since it is still a long way to Weds. Thinking of you all, Karen

This weekend was horrible. I'm not noticing dark stool...but his head banging, jaw clenching with tension and whole body shaking was undescribable. He barely talked and I could only get bites of food in him. Since he has ulcers I started the allergen free diet and only whole foods. He is detoxing...but it is like his personality is being overtaken from something. His temp was fluctuating between 96.8 to like 99.9 and back and forth. I have never seen this before in him. The autistic behaviors got worse, he got a runny nose and a cough and today(sunday) he was totally exhausted from the week. He is fatigued and napped for 3 hrs. He also seems very tense and has a lot of anxiety that I can notice. He looks glassy eyed at times. I'm so besides myself that I can barely function. I'm so scared that the fevers took there toll and now he is having severe neurological damage done and it is showing bad. I see his pediatrician tomorrow for my little girls 4 month apt. and I'm going to beg and plead that he send me somewhere immediately to be evaluated. I can't wait till Wed. This past week, actually past month he has changed into a totally unrecognizeable person. What can I do?

Hello my name is Kasey. I am Regina's cousin/best friend. They have missed their appointment with Dr. Spalding on Wednesday and are rescheduled for Monday the 3rd. Jarin has been in the hospital since Monday morning. He is at Akron Children's and they know NOTHING about his disease. He was released on Thr evening even though he couldn't walk or bear weight on his legs. He had 2 punctures during the spinal tap. He was readmitted fri morning w/ severe nausea and vomitting. He will not eat or drink much of anything. Docs are telling Regina she is being to hyper. but they aren't understanding. They are makin him a case study while treating him like any other patient. Even trying to force him to get up. Please help us with any way to relieve his pain!!!!!!

Regina, Jarin and Kasey, so very glad you all got the help u needed!!! Best wishes!!

Hi Regina. How is your son doing? I keep checking this site every day hoping you will post good news. I am keeping you and Jarin in my prayers. Best wishes, Tina

Me too. I have left them phone messages a few times with Regina in the past week, and am hoping things got better. The last call I had was that Regina's son was in the hospital and they were not sure if he would make it to the Monday appt. I am hoping and praying things are ok. I had not heard from Regina in a week, so I am concerned. Thanks to all that are on here, showing their support. This has been so hard for the child, and his family. Karen

Hello all. It has been a whirlwind with finding out this new DX. Hello Karen Durrant NOMID Alliance. Think of you often. Thank you all for writing to me during that horrible time. Felt like the sky was falling and I didn't know how to function. Here is an update. My son was DX in Sept. 2011 and then he hospitalized for over a week with spinal tap, MRI, EEG and a ton of other tests as you are all familiar with. Since then my little girl Gianna is also positive for the V200M gene, MWS as well as myself and my mother. I have 2 brothers and one got tested and he is negative and other other brother refuses to get tested at this time. I'm positive that my aunt (mother's sister) will also be positive because she is very symptomatic. We have daily struggles with the kids symptoms and just trying to soak in what the DX really means. Jarin was DX at 3 yrs. old Thank you to everyone who helped me through several months ago. God Bless, Regina

Hello Regina, It's so wonderful to hear from you. We were all so worried about your son. Did you decide to start treatment? My daughter just started on Ilaris and I can't tell you what a world of difference the medicine has made! She has so much more energy and is such a happier girl now. She is 6 and we waited too long. Good luck. Tina

Hello Tina...Thank you for replying. So far we have not started anytype of treatment. We did another round of Bloodwork and urine testing yesterday so I'm anxious to see the results for both children. Dr. Spalding and Dr. Zeft at Cleveland Clinic both feel that we should continue to wait for treatment at this point...which I'm fine with due to my own fears. We do a lot with chiropractic and Homeopathic care. He hasn't been on any medications to this point and I know that the chirop. and Homeopathic stuff is debated...but it seems to help as much as it can. So glad to hear that your daughter is feeling better. I guess in September the positive dx news just hit me like a ton of bricks. Just like everyone else...so many questions, flashbacks to the terrible past 3 years he has had and on top of that we had another baby who is also positive and showing symptoms since birth as well. I honestly have to say that I had a nervous breakdown learning of this news. Thanks for sharing with me. Is there any suggestions you would have for me? Can I ask...does your daughter have the V200M variant?

Regina, No, not the V200M mutation but I think there are other patients in the USA with that. You may want to check with Karen Durrant and maybe she can put you in touch with some other patients with that mutation. Good luck. Tina

Ok, thank you so much. Appreciate all of the helpful information. I will try to contact Karen. :)

Hello Regina and everyone, Getting the news of the mutation is a mixed bag of emotions for sure! You finally have a name and a diagnosis, but then again, you now know what is possible with this disease, and that is a hard thing to process. I think everyone will never forget the day when they get the news of the mutation! I still remember every bit about it for my son, where I was, what I was doing, and how I was up for many nights searching the internet for more info, and what could be done for him in early 2003. This was before they started the anakinra drug trials at the NIH, and when they were first seeing patients there with NOMID. Thanks to other parents that I found online, I was able to get my son into the NIH, and later the drug trials, but before that I was very worried for his future. I answered Regina on another post yesterday on rareshare, but yes, there are a number of others with the V200M mutation, and some have more symptoms than others. There are also people in the population that have this mutation and are not symptomatic, so it is complicated, but for those that have issues with CAPS symptoms, they do suffer with it, and the medications for CAPS can help. I noted from your other post that your son has some neurological issues as well, and those are not common to CAPS, but there is another family that I know with a different mutation that has a son with tourettes tics, and he also has asperger's. His mutation is a different variant CAPs mutation ,and the doctors are trying to sort out what is going on with him, but the tics they feel are not from CAPS. The family has thought that this issue has improved since he has gone onto medication for CAPS, which is interesting, but he is also on other meds to help this condition. Here is one article of a family with the V200m Mutation: http://onlinelibrary.wiley.com/doi/10.1002/art.20033/full Also this one: http://onlinelibrary.wiley.com/doi/10.1002/art.10509/abstract Give me a call and we can talk if you want. Medications targeting the over-production of Il-1 can help, and you may want to consider it if your children have more symptoms or signs of risk to their hearing or other issues. Healthy diet and nutrients will be good for overall health, especially if there are GI issues, but the Il-1 modifying drugs target the main issue with CAPs inflammation, which is the over-production of Il-1 from the mutation. However, since you have the V200M mutation, the doctors may be more willing to watch and wait a bit, if that is your choice. Best of luck, Karen

Hello Regina, We haven't heard from you in awhile. How are thing going????? I hope everything is so much better. My prayers are with you! Tina

Hello everyone. So sorry for dropping off of the planet for awhile. Thank you for all of your thoughts and prayers. Right now I am trying to keep Jarin's Eosinophilic Gastro. Disease at bay so that it won't spur up the MWS infl. As for my 1 yr. old daughter she has been displaying a rash since about March 2012. So now she is having more symptoms along with the vomitting/GI issues. I emailed pics of her rash to Dr. Spalding and Dr. Zeft today at Clev. Zeft called me and told me that the rash on her bottom and back of legs look more blistered and not common with MWS...but the rash on the top of her thighs and top of legs do look more like MWS. I am going to continue to keep a log and if symptoms become more intense or worsen I am to take her in for him to evaluate. I have to say that for now things are somewhat stable. I'm focusing so much on the food and the wholefood supplements that we all three take daily. We just got back into our home due to mold remediation in the basement and myself, and the two kids had a fungus growing on our eardrums that needed to be scraped out. Not fun. Hopefully the mold spore count is lower and it will be a healthier environment for the kids. Just don't want the home to be spurring their inflammation when we are working so hard to keep it at bay. Thank you all so much for your help. Thank you Karen for your listening ear and eagerness to help when you all have your own battles you are tackling in your own homes. :)