Hello new members. My daughter was diagnosed with Muckle-Wells this year at age 16. No one recognized the rash, fever, body aches episodes that she had had for years Or that she has been progressively losing her hearing since she was 2. She had been seeing a rheumatologist at Phoenix Children's Hospital for two years, then a patient with some of the same symptoms led him to my daughter's diagnosis. She has been on daily Kineret injections since January. The improvement in her energy level is amazing. I just wish we'd figured it out sooner. She also has another rare disorder, eosinophilic gastroenteritis, that is unrelated. She was diagnosed with that at age 8. How did you find out so much sooner than us? No one that I know of in our family has anything like this. Looking back, I beat myself up for not seeing that something life threatening was happening to her. She had severe headaches and high fevers when she was four. This didn't cause her hearing lose, but probably had caused the stroke damage that was seen in one of the MRIs. Also seen was the shrinkage of the brain. I sure hope this is/was a result of the Muckle-Wells, not some other unknown. If anyone reads this, please let me know your symptoms and story/process. My name is Michele Farnum and I'm on Facebook.

Hi Michele, Sorry that I did not see this posting when you first posted. I also run The NOMID Alliance, www.nomidaliance.net, and was recently contacted by another mom in Arizona (near Tuscon) that has a 16 yr old that was just diagnosed in April this year, and has suffered greatly too. I would like to get you tow connected ,as they are trying to get some doctors to help them in Arizona. We have connected her with Dr Hoffman in San Diego, and doctors at the NIH in Bethesda, MD as well, as she has a lot of complicated things in addition to her CAPS, and is in need care from doctors that are world experts on this condition. Please call me at 415-831-8782 if you want to talk more, or get connected with this mom. My son has NOMID, and was diagnosed at 3 1/2 yrs of age, mostly due to my persistence with looking for answers online, medical journals, getting a copy of his medical chart and reviewing it all myself (I am also a nurse.) We saw many doctors, and all have otehr ideas for what my son had, and many would not consider that my son could have such a rare and severe condition, as he is a milder from of NOMID than most, and did not have brain damage or joint damage, although he had mild papilledema, MRI changes, elevated LP pressures (spinal tap) and slight hearing issues, but no one figured these things out until much later. I found out about genetic testing for periodic fever syndromes, including CAPS in 2003, and begged our Rheum, to do the tests, but she refused to do them, but considered maybe doing the TRAPS test, although I kept telling her my son did not fit those symptoms! She was not listening to me, and we wasted too long with her, and my son nearly died at birth, and at 13 months from a pericardial effusion that nearly compressed his heart to stop (tamponade) and no one connected things. I got my son's pediatrician to do order the genetic tests for me, and that is how we finally found out that my son had NOMID. Had I not been seeking answers, and pushing for tests and analyzing things on my own in his chart to see the lab trends, etc., I have no idea how long we would have gone without answers! My son was suffering severely, and was having almost daily flares, and unable to walk much due to the pain, and was having terrible head and spine aches from the brain pressure, and had stopped growing for a few years until he went onto anakinra in early 2004. We had found out online, after getting the gentic test, that there was a patient yahoo group called nomidsyndrome and that the NIH in Bethesda, MD was doing studies with patients with CAPS. We had our pediatrician contact the NIH, as that Rheum. was mad and refused to believe my son had this condition, even with the genetic test! We went to the NIH, and he later went into their first studies with anakinra. It was a miracle to see him rash free 24 hours after the first dose, and flare free too! He started to run a few days later, after having to be in a stroller to get around (at 4 1/2 yrs of age) and began to grow for the first time in years. He is now very stable, and caught up on growth, and it is hard to believe now how sick he usaed to be, as he looks so well now. He has been on Ilaris for over a year as a part of a study, and at a triple dose, he is very stable and as good as on the anakinra (he was on a 3 mg/kg dose of that, a higher dose too) and is very happy. We started our non-profit in 2006, The NOMID Alliance, to help increase awareness, care and treatment for CAPS. So many have suffered way too long with this condition, and I am hearing from people all the time that have not had the right diagnosis early enough due to lack of understanding or awareness about CAPS. The good news is that increased awareness is helping people to now get diagnosed, and I have been hearing from more parents with infants that are getting diagnosed, even one in the NICU at 2 months! Can you imagine if we could have known sooner? However, no good treatments have existed until this century, so your daughter would have still sadly suffered as a toddler, but I am so sorry that she has had to go so long without the right diagnosis. Please call me whenever you like. I live in California, and we run the non-profit from home, so I am available on weekends too (but this weekend is Halloween so maybe call Sun afternoon.) Karen Durrant

Hello Everyone, I recently have become a member and I'll share a brief descrption of my story. I am a 23 yr old female who just got diagnosed last year. I was always sickly as a child and when I was born the doctors told my mom that I had over-active Mast cells, but would grow out of it. I had always had lists of various medical problems, including high fevers but it didn't start getting really bad until 4 years ago. I got another fever of 104.5, hives, and severe stomach pains and was hospitalized for 4 days. Then my symptoms went away and I was sent home with an unknown diagnosis. Gradually after that I started getting hives every day covering my whole body as well as painful arthritis. Nothing made them go away. I saw numerous specialists who all told me that they didn't know what was going on and that I would hopefully grow out of it. I also was told by a few that it was all in my head, I don't handle stress well, and I was put on anti-depressants. I eventually was sent to a Rheumatologist in the area, who after putting me on methotrexate, decided to refer me to the Mayo Clinic in Rochester, Minnesota. After numerous tests and doctors visits I finally sat down with a Rheumatologist there, Dr. Bongartz, who ordered genetic tests and finally diagnosed me. He started me on Kineret (about a year ago) and my life has been so much better ever since. I still get frequent hives, but nothing compared to what they used to be like. He also told me that there is another medication for Muckle Wells that will be available in hopefully about a year that he would like to try me on as well. I don't have any significant hearing loss that has been noted yet. That's my brief history, my name is Rachel and I'm glad I've finally found other people that can relate to what I've been through!!

Dear Rachael, I am so glad that you finally got diagnosed, and sadly, your story is all too common. I am hearing from newly diagnosed people, many your age and even older that have gone through so much before they were properly diagnosed. We are hoping more awareness will change this. I am surprised that you are still getting the hives while on the anakinra-are you having other symptoms with the rash too? My son was on anakinra for 4.5 years until he started the Ilaris drug study (it is now FDA-approved and available for prescription) but he only had a rash return on anakinra once when he had a bad flare, and they needed to raise his anakinra dose. Once the dose was raised, he was free of symptoms. Over time, many people need higher doses of some of these medications to keep the symptoms in control. He has had occasional symptoms happen if he has needed a higher dose of medications, but the rash rarely has come back. There are 2 FDA approved medications for CAPS, Rilonacept, and Ilaris. Rilonacept is a once a week shot, and Ilaris is once ever 8 weeks! My son has been as stable now on Ilaris as the anakinra, but he had to have 2 dose increases in the first year to keep symptoms in control. He loves not having the daily shot, but the Ilaris drug study is ending, so we are trying to get the medication approve and covered by our insurance. It is available. Call me if you want more info, or look at the links page of our non-proft for CAPS website www.nomidalliance.net for links to these various drug websites. My number is 415-831-8782 Good luck! Karen

The only other symptom that bothers me is the arthritis. Although it's not as severe as before the medication, it does still bother me from time to time. Mainly with a lot of activity like walking, running etc. I'll have to talk to my doctor about increasing my dose or trying something new. Right now I'm on 100mg/day, not sure if that is low or high? Thanks for your help! Rachel

Hi All, I have just joined today as my son (13 months old) and my husband (30 years old) and his father and his aunty all have Muckle wells. They were diagnosed after a very persistant aunty would not give up and insisted on further tests. They all went to the royal free hospital in London who were amazed to see so many people in one family. My son was born a few months after the diagnosis and his cord blood was sent to the royal free who confirmed he also has muckle wells. Its very scary as he already comes out in terrible rashes but I can't tell if he is in pain yet as he obviously isnt talking. We are just starting to get help to answer all the crazy questions I have and are visiting Prof. Woo at great ormond street this month who is an expert in the UK :-) His hearing tests so far are ok but I do worry about that as he has to keep going every 3 months and he was so young on the last ones it was difficult to tell if there was a problem or not. after reading all your items above I do feel lucky that we found out what it is before my son was born so I can make sure we do the best for him. Its great to hear your stories and make sure I can help my son when he is in pain. They have already said he wont get any drugs until he is around 10 so may have some tough times ahead. Louisa UK x

Dear Louisa, Thanks so much for sharing your story, and I hope that Dr Woo can help your son feel better soon. I am in contact with quite a few of Dr Woo's patients with CAPS, and many are on medications from a much younger age than 10. I am wondering why they will not consider giving him medication sooner? As your son is just over one year of age, perhaps they are waiting until they know the extent of his condition. Has anyone else in the family been put onto medications for CAPS yet? Please feel free to contact us anytime at The NOMID Alliance (USA) at 415-831-8782 or by email at site_manager@nomidalliance.net and I hope that things get better for your son, husband and the entire family with MWS soon. The medications work very well, and can greatly improve patient's lives. Karen Durrant The NOMID Alliance

Hello. My 9 year old daughter was just positively diagnosed with Muckle Wells Syndrome. We have been battling chronic hives since the day she was born. It always seemed as if she had these minor problems, but as a mom I felt like they all had to be related. Well, this year we visited an audiologist who diagnosed the hearing loss. I was persistent with her primary physician on all these symptons & she finally found the Muckle Wells Syndrome. We are now just in the process of getting insurance pre-approval for the Ilaris medicine. I am very appreciative for all of these posts and hope to connect with other parents for help in understanding this syndrome and the medication.

Dear Jen, I just sent you a response via email through The NOMID Alliance, and found this post from you too. My middle son has been on Ilaris for over 1.5 years, and it is wonderful! He was on anakinra for 4.5 years before that, and is 10.5 years old. I hope that we can connect and talk soon over the phone. Thanks for contacting me, and also for this post. I really hope that your daughter feels better soon. Many find that once they are on medications that they often say that "finally know what normal feels like." I hope this happens for your daughter. Karen

Well, my daughter was approved for Ilaris yesterday and we have an appt. with the rheumatologist today. I have high hopes that they will be able to start the medicine today. I am still waiting on a call back from the doctor that you had told me about Karen. It's been a week today, should I call back?