Muckle-Wells Syndrome is a rare disorder characterized by progressive hearing loss.
|Hearing loss||Hearing loss|
|Joint pain||Joint pain|
|Recurrent urticaria||Recurrent urticaria (hives)|
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: https://www.facebook.com/groups/nomidalliance 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
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.
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: http://www.nomidalliance.org/capsgen.php We have a helpful comparative chart of autoinflammatory diseases too: http://www.nomidalliance.org/compchart.php 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: http://www.ped-rheum.com/content/9/S1/P297 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: https://www.facebook.com/groups/nomidalliance/ that you may be interested in joining. We also have a CAPS only group too, but many are in both groups. rareconnect.org 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 email@example.com as well. Best regards, Karen Durrant nomidalliance.org
Dear Mayo, I would suggest that you look at the various websites for these medications to read the full prescribing info for each one. Ilaris and Arcalyst are FDA approved for patients with the FCAS and MWS forms of CAPS, and anakinra is approved in the US for the NOMID form of CAPS. Anakinra was first approved for Rheumatoid Arthritis around 2001. Arcalyst was FDA approved for MWS and FCAS by 2008, and Ilaris was first approved in late 2009. All drugs have to have many years of follow up and FDA reporting for any adverse events or significant issues with any medication. Also, I know that there are some ongoing registry follow up studies for Ilaris and there was one for arcalyst (it may still be going on.) Anakinra has been approved longer for RA, but was more recently approved for the NOMID form of CAPS in late December 2012. If you want to have the websites and more info, please take a look at our website where we have links to the various drug websites and prescribing info. http://www.nomidalliance.com/capstreat.php I think that you may have also posted on the CAPS community at rareconnect,org so I will also share this there for you too. Let me know what we can do to help. Thanks, Karen Durrant nomidalliance.org
I do not know, but my son has had bi- monthly shots for 2 years now and he has remained well. He was sick (unrelated sickness) and missed his medicine and went 3 weeks over his due date. Within this 3 weeks his caps returned for the worst it has been since the medicine started. Long term affects, I have no idea. Fingers crossed, their will be none.
What are the side effects of the Muckle-Wells shots? How long have the shots been available? Are they tested for long term effects? Please help.
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
Thank you. I have been checking out the sites.
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
I have not heard from any patients yet with increased muscle weakness from these medications, so you may want to call the patient assistance line for Ilaris 1-877-452-7471 to ask about this, and talk to your doctor too. There are patients that have had issues with lax muscles, or tendons in some cases of CAPS, which can be present throughout the body, but this has been noted more with patients that have more chronic inflammation, and were noted before going onto medications for CAPS. This can persist to some degree while on medications, but for some it improved. We also have a large CAPS community on facebook in a private group with almost 200 members http://www.facebook.com/groups/41019328476/ it is private, but you can ask to join. I will ask the group this question and get back to you, but feel free to join and ask too, or ask on the rarediseasecommunities.org CAPS group too. Thanks, Karen
currently, canakinumab had been on anakinra initially thanks!
I noted that you are a medical professional too. Send me an email, and I can help you find some information. Thanks, Karen Durrant
Just found out that I'm not a member of this group after all but I've sent a join request x
No problem with sharing this on fb. I am a member of the group too. My main reason for asking is because a support a charity called post pals here in the uk. It send sick children cheerful mail through the post. I often see poeple drumming up support for blood, bone marrow and organ donation and would like to be able to say I'm on the register should a potential match come up. I will watch this space with interest. Sx
Dear Sassy6, Here is some more info that I got in regards to organ donation and bone marrow from another expert: "Organs should be fine as long as there is no evidence of damage from amyloidosis. Bone marrow is probably not a good idea since that will transfer disease." I hope that sums up that part of the topic. As for the organ donation, I would add that it would probably be up to the transplant doctors to determine this, and I can find out more info, but it sounds like people should avoid giving bone marrow. It is also likely that blood donation would be in question but I will find out more on that soon. This is an excellent question. Thank you! Would it be ok if I shared this question and answer (not your name or screen ID) on our facebook private CAPS forum? It is a lively community of 175+ patients and growing from around the world that have CAPS. I think that the patients there will find this a topic of great interest too. http://www.facebook.com/groups/41019328476/ Thanks, Karen nomidalliance.org
Sazzy6, The first day my son went onto medications, he started feeling better within hours of the first dose, but the rash was finally gone when he woke up the next morning. It was a miraculous moment, as we had never seen him rash-free I was staring at him, and his milky white skin in awe, and it was a "pinch me I must be dreaming" moment. I am so happy for you! More importantly he was not suffering from the headaches, pain, fatigue and more severe symptoms within the first few days, and started to walk and even jump and run a few days later. it was to us, a miracle and tears of joy were flowing. He has NOMID, so before he went onto medications he was very weak, and could barely walk without pain and fatigue on most days,plus was anemic, and had stopped growing for over 1,5 years on top of brain inflammation, headaches, fevers, red eyes and pressure on his optic nerves too. He was one of the lucky ones that he started early enough to halt, or reverse some of the most concerning symptoms, including his hearing being saved (it was at the start of being affected, but that was halted). May you all have a blessed and most joyous Christmas ever! I had the opportunity a few years ago to meet the scientists that created this drug, and I was with another patient on the medication that has MWS, and she is on this drug too. We were teary eyed thanking him for his efforts, and he was so amazed to get to meet people that their lives were blessed by this drug, and was deeply touched. It was a nice moment, and we are so thankful that doctors and researchers are working hard to help people with autoinflammatory diseases now. More needs to be done, but these drugs are really amazing! Best wishes, Karen
Thanks Karen, It is indeed great news. I keep checking my arms every 5 minutes and I am amazed that there is nothing there. We are looking forward to a merry merry Christmas and hope you have one too x
Sazzy6 That is amazing news! What a wonderful Christmas present. My son was on anakinra for 4.5 years, then switched to Ilaris in 2008. We were told that it takes 4-5 hours to start working, and by 24 hours it will be in full effect. So, I am sure that the rash going away is due to the medications. I am so happy for all of you! Many patients have said that "Now they know what normal feels like" after starting medications for CAPS. Some finally can feel up to going out in the evenings, as so many are feeling tired and having symptoms every day before medications. We have some artwork on our nomidalliance.org site, and quotes from patients with it on various areas of the CAPS information that show how people feel. Thanks so much for sharing your news. Feel free to contact us anytime also at firstname.lastname@example.org too if you need anything. Karen nomidalliance.org
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. :)
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 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
Dear Mitch, Thanks for finding this site! I am very glad to hear that your son is responding well to the canakinumab. GOSH is a wonderful facility, and I am in touch with many patients that are going there, or other hospitals in the UK that have CAPS or other autoinflammatory diseases. If you would like to connect with them, let me know with a private email at email@example.com or through our website at www.nomidalliance.org I wanted to tell you that there are small, but growing number of cases of variant CAPS, and some families that have a mutation that can cause CAPS symptoms in some members, but some can have the gene mutation, and not show symptoms. Many have the V200M mutation, but some have other mutations. I am in touch with many with these forms of "variant CAPS"and can help you get connected with other patients that have this in their family. Most CAPS does not present this way, but there are some unusual presentations, like Alan had, and we are really at the tip of the iceberg on understanding all the genetics right now. Here is a helpful article about some people in the UK and elsewhere that had some members in a family with the gene, that showed symptoms, and some that had the mutation without symptoms. http://onlinelibrary.wiley.com/doi/10.1002/art.10509/abstract;jsessionid=09738D0CB5A36F67703D723F1877BD7C.d01t02 Here is the main info that you might find interesting: "In contrast, V200M, which was present in all subjects with MWS in family C but also in the unaffected grandfather (Figure 4), has also been associated with FCU susceptibility (12). The V200M variant was present in 1 of 130 Caucasian controls and 2 of 48 Indian controls and was also identified in 2 cases among a group of 50 subjects with apparently sporadic periodic inflammatory disorders. Review of these 2 subjects, both of whom had periodic fever, revealed that the clinical features bore some resemblance to those of MWS and FCU/FCAS, although the resemblance was not sufficient to make a diagnosis by clinical criteria. The first patient had limb pains with atypical rash, and the other had urticarial/edematous-appearing skin lesions with histologic findings showing a predominantly polymorphonuclear leukocytic infiltrate consistent with FCU/FCAS, but no sensitivity to cold. " Some people that have the mutation that do not present with full CAPS have had selective symptoms or atypical ones. It is good that you are not having any Mitch! Let me know if there is anything we can do to help you to get connected with others in the UK, or if you need information. Since 2006 The NOMID Alliance is dedicated to increasing awarenes, care and treatment for patients with CAPS and other autoinflammatory diseases.We have a lot of resources online at our website, to print out,or to have mailed to you to help. There are also some helpful patient groups that you can find in the Connect area of our website at: http://www.nomidalliance.org/connect_links.php Best wishes, Karen Durrant The NOMID Alliance
I am so glad you have found one another on this site. I am the President/Founder for StopCAIDnow, which is the first 501c3 Organization to cover all Childhood AutoInflammatory Diseases. In the eleven months we have worked very hard to make a difference at every level. We are working on some big projects. This week we are announcing some great news, that will help all with CAID! Sincerely, Lisa www.stopCAIDnow.org
Hi All, First post here. My name is Mitch and my 6 year old son has been diagnosed with caps. He is also receiving canakinumab at great ormond street which has changed his life greatly. I have recently found out that i am the carrier and he got it from me, which i could not believe as i have never had any signs of this whatsoever. (im 39) Here's hoping you are all well.
Hi Cleanergirl I experienced the symptoms you have plus more and they did not onset till my early 40s and have been diagnosed Bizarre Variant CAPS If I can be of any help, please contact me. Alan
Dear cleanergirl, There are a few cases of variant CAPS or MWS that have had symptoms start in their 20's, but I think you may also want to look into TRAPS too. Most patients with CAPS do not experience bruising with the rashes, but many with TRAPS can have deep pain that is below where the rash can be, and the rash can migrate. People often have fevers and can have symptom flare ups for weeks, then it can go down. Hearing loss, and knee pain, and weekly flares do make it sound more like MWS or a variant of it may be a possibility. IF you would like more information, please take a look at our website and the downlaodable guidebook about CAPS that has a chart in the center spread that compares a few of these autoinflammatory diseases, including CAPS, TRAPS, FMF and HIDS at this link: http://www.nomidalliance.net/Download1.html If there is anything that we can do for you, please let us know! Lesley, I also hope that you are getting some answers too! I will be out of town for a few weeks in July, but will be checking in on emails. Best of luck! Karen Durrant-The NOMID Alliance www.nomidalliance.net
I am 25 and I know exactly what you're going through! I have very similar symptoms, and I too have been tested negative for lupus multiple times. I do know that lupus is one of those disorders that you can test false negative for, so maybe getting tested a second time wouldn't hurt. I started having symptoms when I turned 21, although thinking back I recall having some minor symptoms growing up but always attributed them to other causes. I have not yet been diagnosed with MWS, but I recently (last week) finally found a doctor that is willing to do genetic testing and believes MWS could be what I have. I do no have any regular fevers either, but almost all other symptoms and then some. I would recommend seeing a rheumatoid arthritis doctor, as they seem to at least know about MWS and CAPS in general, as well as other autoimmune diseases it could be. Anyway, I am by no means an expert on MWS but you seem to have a lot of the same symptoms as me, and MWS is what I've been told I could have by 3 doctors now. I actually went to get a hearing test done a few days ago and was told my hearing is within normal limits which seems impossible because I have a really hard time hearing, but tests don't lie I guess. Good luck and I hope I've helped you in some way! Lesley
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.
Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.
Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.FIND YOUR COMMUNITY
Our rare disease resources include e-books and podcasts
Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.