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)|
New to this board and I see this post is over a year ago but did you get any help for your son? I wasn't diagnosed with MWS until I was 27 but there is help out there! I see Dr. Lawrence Schwartz in Virginia at MCV VCU
I went to Dr J Hausmann at the Auto Inflammatory Clinic at Beth Israel Deaconess Medical Center in Boston.
Dear colleagues, I'm searching for a doctor or a place for my son who has the MWS Any recommendations ?
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
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
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
Karen, Thanks so much. Yes so much to share about the family. Jarin is by far in his 3 yrs. on the more severe end of things. He has symptoms daily and some days are worse than others. Sometimes I think for him the fact that he has to eat a certain way and has to take his supplements so often affects him mentally. Other kids are eating foods in front of him all of the time and he gets to eat his foods that I prepare for him and his treats that I give him...but he is realizing that he can't have the other stuff...he will suffer the consequences later. Back pain, joint and ankle pain, GI issues, some headaches, plugged ears and ear infections, fatigue are def. daily and some are weekly issues. He also has many tics and neuro. issues that show daily. I will try to give you a call for sure. This little one keeps me hopping though!
Regina, I will write you more tomorrow, but I just got off work and saw your message! Wow what news for you all. I am going to email you some info about V200M and also, feel free to call me too. I am home tomorrow 415-831-8782. You may want to have labs done when your children are showing symptoms, or a flare. This mutation is considered to be one with "low penetrance" meaning that there are some people that have CAPS symptoms, but there are others that have this mutation that are in the general population and do not show CAPS symptoms, and one case there was a family with most of the family having CAPS symptoms that had this mutation, but they found two members in the extended family that had the mutation that did not have symptoms. It is complicated, as some patients that I know have this mutation and are greatly affected by CAPS symptoms all the time, but some doctors are not always thinking it is all from CAPS, however, many do much better on the medication for CAPS. I know one lady that is doing very well on meds for CAPS, but was having all the classic CAPS issues until she started treatment. Another has more severe type CAPS, and ha this mutation, but also has some other rare diseases, so her condition is a challenge to doctors. I will email you tomorrow, as I am likely not making much sense right now, but I wanted to get back to you so you know that I have been thinking of you too, and really appreciate the update. Also, we are planning some patient picnics around the US for patients with CAPS and other autoinflammatory diseases, and there are many in Ohio that are planning to come, so we may have 2 picnics there-one nearer to Cincinnati or Columbus, and one near Cleveland. They are just getting set up, but I want to inform you of them, and it would be a way to get to meet others like you and your family! Best wishes, Karen .
I have a quick question. If I am seeing symptoms in both of my children who have the dx of MWS V200M variant...but blood and urine labs come back ok...what does that mean exactly? Would the symptoms be damage showing, or can they still have inflammation but not show up on labs? Please help me clarify. Thanks so much, Regina Statler
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
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