Hello everyone! I'm Lesley, and I am new to this community. I haven't yet been "diagnosed" with muckle-wells syndrome, but I'm seeing an allergist here in Columbus Ohio who strongly believes I have it. As I'm reading everyone's blogs, it seems that symptoms start in childhood. I did have some outbreaks of hives as a child (from what my mother tells me) but haven't ever really had much since then until I turned 21. I am 25 now and my symptoms are worse than ever. I have extremely painful joints and swelling on a daily/almost daily basis. I do get the hives/rash that is non-pruritic and raised, although not daily, more like weekly. Headaches, fever and chills, GI issues all occur as well. Everyone talks about hearing loss. Although I sometimes say "what" frequently to people, I'm unsure if this is "hearing loss" or people just not speaking clearly or loud enough. I often have ringing in my ears--I've always associated that as normal but who knows. My allergist did some blood work that showed a very high CPR. He drew more blood to test my IgE levels. Those results aren't back yet. Basically I'm looking to find out if any of my symptoms seem like classic Muckle-Wells symptoms from people who actually know. My doctor has never had a case, and I could be his first one. Not that I don't trust him, he's actually the only doctor that's been more interesting in helping me. Every other doctor I've been to just basically says "we don't know. Come back in a few months if it continues." What they don't understand is that it is negatively effecting every aspect of my life! I am looking forward to talking with all of you! Thanks for your time reading my symptoms! Lesley

Lesley, It sure sounds like MWS. Good news is there is medicine out there now to treat it and slow the progression. My son, Jerrod, has a definite dx. in 2005 NIH did blood work to confirm it. He too had rashes in infancy and childhood. They would come and go. He would be covered and 24 hours later gone. This started at 3 months old. Now, age 15, symptoms got worse and we just started Kineret, daily injection. His pain is better, no more rashes(or very mild if one at all), swelling greatly improved. He still has GI issues and low energy levels. You are welcome to call me anytime. Going out of town tomorrow, be back Firday evening. My home #270-334-3215. Will say a pray for you and you are not alone if MWS is what you are dealing with. Tara

Lesley, Sorry for what you are going through. Please visit www.stopCAIDnow.com to learn more about these various Childhood Autoinflammatory Diseases. Nomid alliance is also a non-profit Foundation that can be helpful. Is your Dr a GP or Immunologist? Sincerely, Lisa Moreno-Dickinson President/Founder StopCAIDnow

http:///www.stopcaidnow.com

hi Lesley. I live in Cincinnati. Before you start pulling out your hair and go crazy. Give me a call. I have been going through this for 10 months. I have found an amazing. Rhumetolgist here that can really help. He has been amazing. He has clinically diagnosised me and we are now waiting for the genetic testing. Please don't hesitate to call me right away and we an meet. Its Cindy. Reichman 513-383-1990. My Dr is Edward Herzig in Fairfield Oh. A suburb of Cincinnati. I would be more then happy to go with u to mmeet him. He totally gets what IA going on with. I've come crying to his office in tears asking when will. I feel normal again. Please calll me even if you Just want to ask questions

Nearly my whole family have it and (obviously) have the same genetic mutation for it. We have all had different symptoms - I get more joint pain and also started showing hearing loss at 16. My sister gets more GI issues and didn't show hearing loss until her mid 20s. My sister and I have ringing in our ears but our Dad doesn't. So it seems to be quite a variable thing for different people. I also found that I had been compensating a lot with my hearing by doing things like lipreading, turning up the volume on things etc and that probably delayed my hearing loss being picked up earlier. Good luck with it all. We got diagnosed last year and it's been an amazing year.

I guess the bad part about this is that I don't know any of my dad's side of the family, so I'm not sure if its been passed down to me from there or not. No one on my mom's side has anything like this. My sister has a genetic syndrome but it is totally unrelated to MWS. My allergist is an immunologist, a specialist. My GP was an internal medicine doctor, but wasn't being aggressive enough with trying to figure out what's wrong with me. I'm hoping to hear back from my doctor today concerning blood work I had done to check my IgE levels. Thanks for all your replies, it means so much to me to have people who know what I'm going through. I definitely have noticed a lot more lately that my ears are ringing and the hearing will just go out in one of my ears. I asked my fiance if he ever had that, of course he said no. I thought it was normal. I guess not! I'm sick and tired of being sick and tired!!!! So is the only treatment the daily injections? Although I am a veterinary technician and deal with needles on a daily basis, I myself am afraid of being poked with needles so I'm not sure how I'll handle that if need be. Yikes!

Hi Lesley. Just so you know all my blood work came back normal. So that is why I am encouraging u to talk to a rhumetologiat. There r only 300 cases reported in the us. There are other options to first try before the injections. Im telling u I couldn't even get out of bed. Went through severe depression and couldn't understand why I felt like an 80 year old in a 40 year old body. Please Call me I think I can really give u some good insight or u can also reach me at creichman@fuse. Net

I'm 25 and I feel like I'm 80! So I understand how that feels. No news from the doctor today, hopefully tomorrow. Karen10--I find myself doing those things too. Lipreading, turning things up, trying ever-so-hard to hear people talking, always saying "what," or "I'm sorry, I can't hear you." Honestly I didn't think it was anything, I thought I had just been to too many concerts and listened to too loud of music in my car!! haha... I definitely want to prevent further damage if possible. I am anxiously awaiting a diagnosis. I've been dealing with these symptoms for too long. My email address is langhals.4@gmail.com if anyone wants to talk that way.

lesley if you want to see if you are a genetic carrier your dr can order a specific periodic fever syndrome genetic test through a company called GeneDx they are ou of Gathersburg Md. they are the only place in the us that test for muckle wells. the test takes 10-12 weeks for results. i am waiting for my seven panel testing to be due back in around mid May. It has been a long wait. The amount of Drugs I have been on and the waiting to see what works and what doesnt has been a real pain. but my dr thinks he has got it narrowed down to muckle wells after weeding out RA LUPUS and everthing in between. He is an amazing dr. Like I said call me anytime The staff at the National Institute of Health have also been so helpful. They are also anxiously awaiting my test reults. you can have muckle wells just by having clinical symptoms and no genetic relation. i have lots of information on it.

My internal medicine doctor tested me for RA and Lupus as well with negative results. I will call my allergist tomorrow and talk with him about that gene testing. The symptoms are affecting my life--work and home life alike. Its hard to function sometimes. My internist also wanted to test me for bartonella, which is basically cat scratch fever. Since I am a vet tech and am around animals on a daily basis, it would make sense. But the rashes I get are nothing like those affecting people with bartonella, so I and my allergist don't believe that's what I have. My allergist also mentioned FCAS, which from what I've read is basically the same thing as MWS... correct?

Lesley give me a call tomorrow after u talk with your allergist. I can send u copies and give you the websites to go look at. I have spent hours and hours trying to figure what is wrong with me. Have u had any eye problems

Well, I always have sore, bloodshot eyes and usually have the goopy discharge that lasts sometimes all day. I've always attributed it to wearing contacts. My eyes are very sensitive, and I cannot use most contact solutions. I'm unsure if these are related or have nothing to do with MWS.

I called my allergist today and he asked me to come in right away. He said he doesn't think I have MWS because I have GI issues. I have found that some MWS people do have GI issues but oh well. He's sending me to an RA doctor so maybe we can finally figure out what's wrong with me. My allergist also did some extensive blood work today. Can't wait to find out what those results say... He said my IgE level was consistent with MWS, so I'm unsure why he thinks I don't have it only because I have GI issues... I'm so tired of feeling so horrible...

Can I ask what type of "GI issues" are people experiencing with MWS?

what are your GI symptoms? I think seeing a RA Dr. is a good idea. IgE antibody levels are often high in people with allergies

Some of the GI issues we've had are nausea and vomitting, especially during fevers. I've also had a lot of abdominal pain that I could never narrow down to anything specific. A referral to a rheumatologist sounds like a good idea. I'd also say it would be a good idea to get a hearing test done.

Lesley, There are a number of patients that can have GI symptoms and have autoinflammatory diseases. A rheumatologist can be helpful. There are a few in Ohio that can be helpful, and have seen other patients with these symptoms. If you would like to call us at The NOMID Alliance, we can help you get connected with some specialists, and discuss some of your concerns. We work with patients with all forms of CAPS (MWS, NOMID and FCAS) and other autoinflammatory diseases. There are some patients that have an overlap of more than one condition, and may need to have a rheumatologist that works with a team or other specialists to address your issues. Feel free to call me anytime at 415-831-8782 or contact me through www.nomidalliance.net or by email at site_manager@nomidalliance.net I apologize for not seeing your earlier posts last month. I usually get messages from rareshare, but missed this! Best wishes, Karen Durrant

Les ley, My son also has GI symptoms and is positive for MWS. He was dx in 2005 and been to numerous doctors, even perdiatric GI. Colonoscopy and endoscopy just showed gastritis. He has always had stomach cramps with bouts of diarreha. He says it feels like he has the flu. The pain, diarrhea, cramps, nausea usually came on at night and alot of the times a rash and edema accompanied it but not always. From what I have learned is GI problems are common maybe you can refer your doctor to some of the sites mentioned above. They are great. GOOD LUCK!!!

Hi Leslie, I've been following your story for the past few months and was wondering....what ever happened? Did you get in to see a rheumatologist in your area? How did you pick the doctor? Was your genetic test positive? Did you ever get a confirmed diagnosis and start treatment? I hope you are feeling better. Hang in there! Tina

Tina, I did get to see a rheumatologist, I've actually seen two of them. The first one referred me to the second one who sees MWS patients. I have an appointment next Tuesday to find out my genetic test results, so hopefully its good news. I would really like to start treatment, as my symptoms are getting much worse now and some days I feel like I want to die! I'll let you know what the doctor says next week...... cross your fingers for me! Lesley

Hi Lesley, Thanks for replying so quickly. I am sorry that you are feeling so lousy. I've been reading so many good things about the newest medication (Ilaris) for Muckle Wells. If this is the disease you have, you could be treated and lead a wonderful, happy life. A 20 year old should not feel like she's 60 or 70!! I will definitely keep my fingers crossed for you. Good luck, Tina

Hi Leslie, Any news?

Yea :( All of my genetic tests came back negative. Symptoms are flaring up again. I just want to know what's wrong with me!

Lesley, Sorry that you are still seeking answers for your symptoms, and that they are flaring up again! As others have said, there are some people that have the clinical signs and symptoms of CAPS that they have not been able to find the genetic cause at this time. Some have later found that they have a mutation for CAPS, or other conditions that is not expressed completely in their bodies, which is called somatic mosaicism. There are some special research facilities doing these tests, and many that were previously diagnosed as CAPS without the genetics now have found that they do have a mutation through these new tests. I can send you some information about this if you like. It is all very specialized research, but is really a big breakthrough in understanding these complex conditions. In addition, there is another cause for some cases of Familial Cold Autoinflammatory Disease that is not caused by the NLRP3 gene for CAPS, but by NLRP12, which causes the same symptoms but has a different genetic origin. This is a very new discovery. Some people have been negative for the CAPS gene NLRP3 (CIAS1) but have been found to have this NLRP12 gene. Regardless of the genetic cause, they are suffering the same, and need help. You also may have some other condition, but my point is to not give up hope, and find a doctor that will try to treat you and help you with your symptoms, regardless of what they find on a genetic test, as there is so much they still need to learn and discover about these conditions. The list of autoinflammatory diseases keeps growing too, as more discoveries are made. Newly classified conditions are coming up all the time. There are some patients that have been given some of the medications used for autoinflammatory diseases to see if the drugs will help their symptoms, even if the genetics are negative. These things are between you and your doctor to discuss, and they are the best ones to determine what would be the best plan. This is very experimental, and is not the standard approach, nor the best for everyone, but it is worth discussing with your doctor. The challenge for these patients is insurance coverage for the drugs, when they don't have a clear cut diagnosis. I am thinking of you, and appreciate that you are keeping us posted on things, and I really hope that you can get some relief soon for your symptoms. Best wishes, Karen Durrant NOMID Alliance

Hi Leslie, I'm so sorry for you that you didn't get confirmation of your diagnosis. What does your doctor suggest now? Your symptoms sound so horrible. I hope they can find an answer for you soon. Good luck and HANG IN THERE!!! Tina