Son recently Dx with Muckle Wells Syndrome

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  ambern | published 3 months ago | Originally written in English Son recently Dx with Muckle Wells Syndrome

  Hi, My name is Amber, I have a 4yr old that has just been dx with muckle wells. I am so blessed to have found Dr. Lowe in Birmingham,AL. Until now I felt like it was a uphill battle to get answers for my son. He started out with ezcema as a infant and we noticed it happened when we went back to Ky to visit family. He would often get mouth ulcers and have unexplained fevers and was hospitalized twice for this. Dr.'s acted as if it was always a random virus that they just couldn't explain. I noticed his pattern of mouth ulcers, fevers, rash, and joint pain and when I brought these symptoms up to his regular physician he looked at me like I was a nut. Even my husband wasn't understanding our sons battle with itching and knee pain. I was told Kids just get these things and since it goes away don't worry. I am very determined at this point and continued to take him back to the Dr. everytime these symptoms would arise. Finally he refered us to a pediatric Rheumatologist in Birmingham Al. We were there for several vists when he had no symptoms. This past Friday his Dr. met me in his office although he wasn't in clinic that day and after looking at his visible rash and red eyes, joint swelling, he said he has Muckle Wells. He had told me he thought that before and we had already had the genetic test done to see if he has the mutation but we are still waiting on results. Reading this forum I couldn't help but cry.Which sounds silly but just knowing that there are others I finally felt like there are people who understand. There is a lot of relief knowing your not alone.
  11 replies to the topic — see all replies

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    karend published 3 months ago | Originally written in English

    Dear Amber,

    Thanks for joining, and sharing your story. I am very glad that you have found a doctor that is trying to help too. My son is now 12, but he was finally diagnosed when he was 3.5 years of age with NOMID, a form of CAPS. He went onto medications when he was 4.5 years old that have made a great difference in his life.

    If there is anything we can do to help you in this process, please let us know. We are all here to help. You can also call me anytime too at 415-831-8782 ( I run The NOMID Alliance, nomidalliance.org)

    Please keep us updated.

    Thanks,

    Karen Durrant
  • 
    paul published 3 months ago | Originally written in French

    Bonjour Amber,

    comme l'écrit Karen, merci de rejoindre la communauté CAPS, et il n'est pas stupide de pleurer quand on constate que l'on n'est plus seule face à une maladie très rare (1 pour un million).

    Pleurer cela fait du bien aussi et de savoir que votre enfant va être pris en charge par la médecine apporte un soulagement important ce qui vaut bien quelques larmes !

    Heureusement qu'il y a des médecins qui se tiennent informés sur les maladies rares et surtout qui font le rapprochement entre les symptômes, conjonctivite, urticaire, douleurs et gonflement des articulations et surtout surdité.

    vous ne parlez pas de la surdité, est-ce que votre enfant (garçon ou fille ?) a des difficultés pour s'exprimer ? devez-vous répéter plusieurs fois ?

    la surdité n'est pas identique pour tous le malades du MWS (muckle et wells syndrome).
    dans notre famille (11 malades) certains sont appareillés d'autres non.

    peut-être conviendrait-il d'avoir un suivi de l'audition. Votre spécialiste va peut-être vous le proposer, sinon posez lui la question.
    il faudrait aussi lui demander si votre enfant est prédisposé à faire de l'amylose.

    maintenant, quel traitement envisage-t-il ?
    Il existe deux médicaments efficaces en Europe, l'anakinra et la canakinumab. Sont-ils disponibles chez vous ?

    pour ma part, Président de l'association française AMWS-CINCA (www.amws-cinca.eu) je reste comme Karen de Nomidalliance de San Francisco, à votre écoute si vous avez besoin d'aide.

    Avec Karen nous nous sommes rencontrés l'été dernier, vous pouvez voir le compte rendu sous la rubrique "comprendre" de ce forum sous le titre cinquième anniversaire. Ce fut une rencontre très enrichissante.

    je vais avoir 70 ans cette année et ce n'est qu'à l'âge de 32 ans que j'ai été diagnostiqué MWS et soigné à l'âge de 64 ans car l'anakinra n'était pas reconnu pour soigner les caps et le canakinumab n’existait pas sur le marché européen.(mis en vente le 1 juillet 2010)

    donc depuis 6 ans je me porte très bien, la qualité de vie est incomparable avec celle qui était la mienne avant d'être soigné.

    je ne connais pas l'anglais donc pas de possibilité de se téléphoner, mais écrivez moi si vous le voulez par l'intermédiaire de cette communauté de patients.

    bien cordialement

    Paul
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    ambern published 3 months ago | Originally written in English

    Thanks Karen and Paul,

    Your words were very encouraging. I am so happy to have found this website. To Paul, with my son he had failed a school hearing test in August of 2011. We immediatley followed up with an ENT to have a second hearing test. They said his hearing was fine but I didn't really agree. We have noticed having to repeat ourselves several times, and he wants the television to be very loud. We are going to start having his hearing checked every 6 months since I can't shake the feeling that he isn't hearing well. Thank you both for replying! I am so excited to have people to talk to who understand!

    Sincerely,
    Amber
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    karend published 3 months ago | Originally written in English

    Dear Amber and Paul,

    Thanks for all the wonderful feedback! Amber, I am hopeful that if your son can get onto medications for CAPS soon, and at the right dose that his hearing will be spared. Some patients have not had the hearing loss progress if they have started medications early enough in life. This is true for my son that has NOMID, and some other patients too. Each case is unique, but starting medications early in life can be the best way to prevent the disease progression.

    Depending on your insurance, and the doctor's orders they may have to wait until the genetic testing come back before they can authorize the medication prescription, but there are some excellent medications that target the cause of the inflammation that work well for MWS. We have some info on our website about each of these drugs that are commonly prescribed in the US for MWS, and many links to the prescribing info from the drug companies, and about patient assistance programs for the cost on our site at this link: www.nomidalliance.org/capstreat.php

    As I said before, you are welcome to call me anytime too. I know that it is hard to search for the cause of your child's suffering, but it is sometimes as hard, or harder to finally know what the condition is, and read about it. The good news is this is one of the autoinflammatory diseases that have some excellent, and very effective targeted medications that work well for most patients. If your son has MWS, there are very good chances that he will be able to have most, if not all of his painful symptoms under good control with these medications, and will feel a lot better. Every person is different, but please know that we are here to help, and this is one of the few rare diseases that have some very effective medication options. MWS, and CAPS in general is not a fun disease to have, but so many are doing a lot better now that there are medications that help.

    Best wishes,

    Karen Durrant
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    Yufan published 3 months ago | Originally written in English

    Hi, Ambern:
    We have a similar expreience. Just my daughter didn't got the diagnosis until 8. For 3 years her physician just keep take blood work and "keep monitoring" it. Even she has some minor hearing loss at 5, several swellon joints and hive since she was born, her doctor just kept saying "let's keep monitoring it". Last year after she refused my request for the referal for the rheumatology doctoc, I call a nurse practitioner told her about my concern, and said I really really think it is better for her to see a specialist, I gave her the doctor's name, and she make the referal for me. After a year, we found out that she got this syndrome.
    Originally we though we were going to get treatment two weeks ago, but we still waiting for the approval from the insurance. The treatment is very expensive. for over 40 Kg weight, the cost will be 96,000 a year. But I also read the good news earlier this year that they are working on getting approval for the durg being used on treating gout and other inflammatory disease. Therefore the cost will decrease in the future.
    I have to said I also cry several time after the diagnosis, but at least there is a treatment.
    Good Luck!!!
  • 
    karend published 3 months ago | Originally written in English

    Dear Yufan and Amber,

    Thanks for sharing your experiences, and I hope that both of your children are able to get onto treatment, and feel better soon.

    Yufan, I am sorry to hear that your child was not diagnosed sooner, and that it is taking awhile for your insurance to cover the medication. Please call me if you need some help with the approval process.
    The patient assistance program is excellent, and there is a form that your doctor should have filled out that will help to facilitate the process for approval. It is on the ilaris.com website for download in the area for medical professionals. This form will help to initiate the process, and also the patient assistance program for co-pays.

    Let me know how we can help you,

    Karen
    415-831-8782
    nomidalliance.org
  • 
    Yufan published 3 months ago | Originally written in English

    Dear Karen:

    Thanks, that's a big help. I will go to check it out and bring it to my doctor.

    Yufan :)
  • 
    ambern published 3 months ago | Originally written in English

    I am sorry you are having trouble Yufan, I hope that your daughter gets approved soon! We got the news last night that my son was approved and we get our first batch on Friday. Yufan you were on my mind last night , I will be praying for approval for your daughter! Much love and thoughts your way!!
    Amber
    256-520-7168
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    Yufan published 3 months ago | Originally written in English

    I am so happy for you. The nurse said we should get the answer from insurance company at the end of this week. I plan to call them again around thursday if I didn't heard from them.
    After reading Paul's message, I felt much better. Seems with the treatment, they still can have a pretty normal life.
    Good Luck to all of us.
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    tatiyanaboriskina published about 1 month ago | Originally written in English

    Hello! My name is Tatyana. I from Moscow (Russia). I have a son, to it 2 years. And all this time to us couldn't diagnose. The child since the birth has a high temperature, the rash, which itself every day appears and disappears, and as knee joints are increased and all nimfotichesky knots are increased. And here at last that we got to the good geneticist and it directed us on the necessary way. Made tests to the child and in it found a mutation in a gene. That speaks about that that the child has a syndrome Mukle-Velsa. Now we made tests with the husband and we wait for results. It is very difficult to accept a disease on the one hand, and with another - we had a definiteness because two years treated us for an infection, which as couldn't find.To us all possible antibiotics which didn't bring advantage were replaced. And here at last we have a diagnosis. It is very pleasant to me that I can share the problem and receive useful information from people who faced it. We in Russia have no treatment for this disease and information it is not enough. We at all don't represent how many can cost treatment and where it can be passed. Share please information. Thank you for that that you are!!!!!!!
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    Yufan published about 1 month ago | Originally written in English

    Hi, Tatiyana:

    I think you can find some answers on the website of ilaris: www.ilaris.com/index.jsp
    Their patient support program is great. We have some trouble to get the medicine at first. They are the one help us to resolve the problems between the insurance company and pharmacy.
    You might be able to locate the help in Russia.
    It is a good thing to diagnosis the problem sooner, so you can stop the progress of the disease.
    Best Luck to you.

    Yufan :)