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  carew52 | Diagnosis, Muckle-Wells | published about 1 year ago | Originally written in English INTRO

  I thought I'd do a little intro, I turn 29 on the 16th of June and currently live in Western Australia. I first learned of Muckle-Wells when my brothers GP first brought it up. Though its really being my sister whose chased up info and got the ball rolling the most. This might have something to do with my darling little niece whose about 18 months old. My sister has since had her blood test as confirmed Muckle-Wells and not just my brother but also my Dad have blood tests pending. There is only me now, having got a referral, who has yet to start the testing process.
  5 replies to the topic — see all replies

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    karend published about 1 year ago | Originally written in English

    Thanks for joining this group! I believe I know your sister via email. I am the President of The NOMID Alliance and she found our website and CAPS guidebook that helped her get the right diagnosis. There are a few others in Australia, besides your family, and I am so glad that you all are getting help!

    I hope that you all can get the right medications to make you feel good every day. Sorry for the delayed response, I was not able to get online for awhile due to my own health issues.

    My son has NOMID/CINCA, and used to be on anakinra, but is now on Ilaris. He has done very well with either of those medications, and truly lives a wonderful and generally symptom-free life now, as compared to before getting the right diagnosis and medication! There is great hope and excellent medications that can change your life. Good Luck.

    Karen Durrant
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    Henrik published about 1 year ago | Originally written in English

    Hi Karen,

    Our 3-month old daughter has NOMID/CINCA and is now, since 1 week, on Anakinra. She recieves 8 mg every 24 hours at 11am. The only problem is that the medication only lasts for about 15-21 hours every time. Leaving a gap of 3-9 hours were the symptoms comes back.
    Did you guys experience this problem with Anakinra or Ilaris?
    We live in Oslo, Norway and get treatment at the best hospital in the country. Only thing is that they have never experienced this disease before... at all.
    Do you know any doctors or scientists that are experts at this disease? If so which country and city? And is it possible to get in touch with them?
    We are so new to this and got a major shock when we found out what she had.
    Can yo buy this CAPS guide book? If so where?
    Any other tips you could think of for worrying parents from Norway?

    Thank you :-)
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    karend published about 1 year ago | Originally written in English

    Dear Henrik,

    I am also going to send you a more detailed personal email, but want you to know that there are other patients that are very young taking anakinra, and often the dose needs to be raised over a few months to reach the right amount of medication to fully cover all the NOMID/CINCA symptoms. I have heard from a few others that have infants that have experienced the same thing when starting anakinra, There are a few cases that the dosing of anakinra has been split into twice a day to fully cover the symptoms, which has helped, but is not commonly needed with most patients.

    I will contact you via email, and will gladly send you CAPS booklets. Please let me know how many you may need. The NOMID Alliance is a non-profit, so we do not charge for the booklet, but if people want to make a donation to cover costs for shipping, we are always thankful! The CAPS booklet is available online to download for free at any time, until I can mail them to you by post from America. The link is: www.nomidalliance.net/downloads/finalCAPSb...

    Thanks so much for contacting us, and I will reply in more detail to you right away about dosing, and practices with young infants, and also some contacts of specialists that may be able to guide your doctors with this process.

    Best Wishes,

    Karen Durrant

    Thanks,

    Karen Durrant
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    paul published about 1 year ago | Originally written in French

    Pour Henrik

    Bonjour et bienvenu sur le site.

    je confirme les informations de Karen, il y a en France des petits malades qui ont des difficultés pour le traitement. Le spécialiste qui les suit a donc prescrit des dosages spécifiques à raison de DEUX piqûres par jour pour l'ANAKINRA.

    en ce qui concerne ILARIS, je ne connais pas de cas, mais je vais m'informer, ce médicament venant d'être autorisé en France depuis un mois.

    En France aussi, il existe des spécialistes pour le Muckle et Wells Syndrome qui exercent dans des hôpitaux parisiens sous l'appellation "centre de référence"

    ces centres de références regroupent des spécialistes : rhumatologues, pédiatres, ophtalmologues, dermatologues, otorhino-logues...qui travaillent ensemble.

    pour connaitre la maladie MWS, vous pouvez avoir des informations complémentaires sur le site orpha.net.fr qui est disponible en 5 langues.

    vous pouvez aussi bien sûr regarder sur ce site.

    je me présente, je suis Paul Rivière, dont vous trouverez mon profil sur ce site, et suis le Président de l'association Muckle et Wells Syndrome CINCA amws-cinca, et mon parcours du combattant est développé dans la rubrique "comprendre".

    nous venons de mettre en ligne notre propre site (hier soir) www.amws-cinca.eu

    il y a un lien entre ce site et le nôtre : regardez à l'endroit des associations, en dessous de l'association de Karen.

    pour le guides des CAPS, en français, élaboré par le laboratoire NOVARTIS (qui vend Ilaris) et un centre de référence français, le CEREMAI. je vous l'adresse à votre adresse mail

    bien amicalement et au plaisir de vous lire et je souhaite de tout coeur que votre petite fille dispose très rapidement d'un traitement approprié.

    Paul
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    carew52 published about 1 year ago | Originally written in English

    I thought I'd better do an update. I've being approved to try Anakinra and have an appointment scheluded in a couple weeks from now to get started on it.