New, introducing myself

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  Jennie39939 | Muckle-Wells | published 5 months ago | Originally written in English New, introducing myself

  Hello, my name's Jennifer. I just found/joined this site. I was born with MWS. My mom says I came out covered in hives, but the doctors told her it would go away as I grew up. Wow, well that didn't happen.

  I wasn't PROPERLY diagnosed until I was 20 years old - though I was misdiagnosed dozens of times. Now I'm 26 and on Illaris and doing quite well. I had all the symptoms of MWS and had a hard time growing up, dealing with the pain and fatigue was the hardest - not knowing what was wrong with me. I was in and out of hospitals my whole life. Every time a joint swelled up - my parents and I just assumed I must have hurt myself - what else could it have been? But no - nothing broken or twisted - just some mysterious unexplainable swelling and pain. Have any of you ever waned to punch your doctors? LOL. Yeah I got pretty frustrated and discouraged at times.

  But like I said, I'm doing good on Illaris. All my symptoms have virtually disappeared and that is a huge relief. I am able to have a mostly normal life now after 20 years. I say MOSTLY normal because I still have a hearing loss that I am still trying to cope with every single day.

  Even though I have the right kind of medication now, I'm tired of feeling "alone" in this. I'm so glad I found this site, I'm actually teary right now. My family has been a great support through and through, especially mom, but I'm a painfully shy person and having to explain it to other people gets old, but I agree we should raise awareness.

  My cousin's little girl may have been diagnosed with CAPS, she had an episode recently. I wasn't able to talk to them about it much because I don't see them a whole lot, but my uncle said "she has what you have". And I feel terrible for that little girl, but I take some small comfort in knowing there is help out there now and she will have a much easier time than I did.

  I truly wish MWS could end with me. But it won't and that's not the right way to deal with it anyway.

  Well, I'll end it here before this post becomes a novel. LOL. Thanks for listening and it's great to meet all of you and read your stories. :)

  ~ Jennifer
  9 replies to the topic — see all replies

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    karend published 5 months ago | Originally written in English

    Jennifer,

    Thanks for joining! I responded to your other post to Allison about the vertigo issue. Please give me a call or email me if you need help with your cousin's child. I run The NOMID Alliance and can help you ,and also your cousin's child to find doctors that may be helpful in their area, and help you with information, and other resources. Our website is www.nomidalliance.org and we do have a CAPS guidebook with information and a comparative chart that may be helpful to you, or your family to talk with doctors, or others about your condition.

    Let me know if you need help with anything ,and please know that you are not alone! My son has NOMID, but we help people all around the US, Canada, and the world with these diseases, and I am so glad that you have found this community to get the support from others now.

    Welcome!

    Karen Durrant
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    paul published 5 months ago | Originally written in French

    Good morning Jennifer,

    In these holiday periods and specifically Christmas in France and around the world, I welcome you to the CAPS community Eurordis.

    I was myself diagnosed with MWS at the age of 32, I was treated at the age of 64 with Kineret and now at 69 I am relieved with Ilaris.

    I know perfectly the disabling symptoms of MWS and they are very restrictive for a young woman like you. But you're lucky to be effectively treated.

    in my family we are 11 living with MWS and due to my persistence, everyone is cared for and we all have celebrated Christmas this day as a family, without pain and other hives. Unfortunately we affected in our hearing, but we are fitted with hearing aids and we live almost normally thanks to researchers and specialists who have studied this disease.

    for your cousin and his children, it is necessary to have a correct diagnosis to be sure they can be treated. they need a genotyping performed in a specialized laboratory.

    In which country do you live?

    I am in France, near the Atlantic Ocean in a city of 18,000 inhabitants called Carquefou and close to a university hospital where our disease is known. We are supervised by highly skilled doctors in the field and who help us a lot.

    I am also President of the association AMWS CINCA website amws-cinca.eu and as Karen from NOMID Alliance who I know very well, I am ready to assist you so you don’t feel alone with your illness.

    You should not be discouraged, you are very well cared of with ILARIS (me too), so at your age you must look at life with hope.

    In this festive season, I wish you a lot of happiness for the New year 2012 and look forward to hearing from you. Unfortunately, I do not speak English, but with the translation by EURORDIS we can communicate.

    With best wishes

    Paul

    Notice: This text content has been translated automatically by a third-party service.
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    Jennie39939 published 5 months ago | Originally written in English

    Karen - I read your other reply and am going to talk to my doctor about this. I Googled ICP to get a little more familiar with it. As a child and up until I got my first injection, I did have times pretty often where I would wake up in the morning and run to the bathroom to throw up. I've had many CAT scans done before and after my diagnosis and they've always come up normal - but I'm still going to ask my doctor about it just in case.

    The "vertigo" I experience now with the Illaris feels very different from any of the symptoms I had before I got medication. I don't remember ever feeling dizzy (the room spins around and I often feel like I'm spinning with it, along with a headache, light sensitivity, and nausea, sometimes with vomiting, but not always). But like I said, I'm going to ask my doctor because I want to be sure.

    I saw the chart you posted on Facebook and printed a copy of it. How or where can I get the guide book? Thanks so much.
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    Jennie39939 published 5 months ago | Originally written in English

    Paul - thank you so much for responding. Your story is amazing. I can't imagine going 60 years with full MWS symptoms. I don't know how I even survived for 20 years. But I'm grateful everyday for Illaris and the chance to live a normal life and for my doctor who helps me. I'm so glad future generations won't have to suffer as much.

    I live in Wisconsin, USA and am lucky to be only a couple hours away from the University of Wisconsin which knows about CAPS and MWS and was one of the places that conducted the study for Illaris.

    I have hearing aids but I wish there was more I could do about my hearing. Even with hearing aids, my hearing is very poor and I miss a lot of what people around me say. I want to learn sign language. I'm convinced sign language would be a better alternative than straining to hear people speak. I need to find a good audiologist to help me.

    Thanks again,
    Jennifer
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    karend published 5 months ago | Originally written in English

    Jennifer,

    I am glad that you are going to talk to your doctor so they can sort out the symptoms. More importantly so they can make it go away! That sounds miserable. When dose this symptom come on? Does it happen after getting a dose of Ilaris, or weeks later, or right before the next dose is due? It may be a combination of vertigo and brain pressure, or just vertigo. It is hard to know for sure, but I hope that they can sort it out. I gave you that info so you can be an empowered patient. Unfortunately patients and their families have to be on top of everything to make sure things are looked at on the level needed.

    I have had the honor of meeting Paul and his family last summer, and they are amazing! He is doing a lot of good for many people with CAPS in France, and Europe. We are pleased that his organization AMWS-CINCA and our org The NOMID Alliance are friends and work together to help people with these diseases. We are trying to organize patient picnics this summer (date and details to be announced) around the US and beyond so more people can meet in person. I will keep you posted on this. We are all here to help you so you do not have to feel alone!

    As for your hearing loss, that is pretty severe. I am so sorry. That must be a great challenge to manage with such a loss. The National Institutes of Health (NIH) in Bethesda, MD has been doing research with CAPS patients for many years, and they recommend having a brain MRI versus a CT to look for issues. They are doing specialized MRIs of the brain that are looking for "auditory enhancement" to see if there are signs of inflammation within the inner ear. This is often noted in patients with MWs or NOMID, and especially with hearing loss, or the beginnings of the loss. It is a specialized type of MRI process, and if you are interested, I can have the doctors there talk to your doctors about it. They may be able to see you too, but no one can get your hearing back if it has been damaged. I know of one patient that went totally deaf at 9 years of age, and sadly was not properly diagnosed until he was 16 with NOMID, and had suffered terribly from the disease. The family was trying to see if they could get insurance to cover cochlear implants, He really wants them, as he has to use sign language to communicate. My heart goes out to you!

    Feel free to contact me anytime. Due to your hearing loss, perhaps the internet is the best way, but if you want to call me that is great too. Do you have TDD or do you use text messaging? We can work out something!

    Best wishes,

    Karen Durrant
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    karend published 5 months ago | Originally written in French

    Bonjour Paul,

    Merci pour votre message encourageant de Jennifer! Vous êtes vraiment une source d'inspiration pour moi et pour tant d'autres. Je souhaite à tous une Bonne Année, et nous espérons que vous avez eu un merveilleux Noël aussi. J'ai quelques choses pour vous aller demain en poste. Merci de nous aider tant de gens atteints de CAPS, et pour la collecte des patients merveilleux et pique-nique dans Carqefou en Juillet. Nous travaillons sur des événements similaires ayant ici l'été prochain aux Etats-Unis.

    Meilleurs voeux,

    Karen

    Hello Paul,

    Thanks for your encouraging post to Jennifer! You are truly an inspiration to me, and to so many others. I wish everyone a Happy New Year, and hope that you had a wonderful Christmas too. I have some things for you going in the mail tomorrow. Thanks for helping so many people with CAPS, and for the wonderful patient gathering and picnic in Carqefou in July. We are working on having similar events here next summer in the United States.

    Best wishes,

    Kare
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    JacquiAdkins published 5 months ago | Originally written in English

    Wow! Your story almost sounds exactly like mine! I had some of the same issues when I was little and everyone looked at me like I was crazy! I finally got so furious being misdiagnosed numerous times that I did my own research and found the NOMID Alliance page. When I saw the rash picture I screamed out loud "I think I figured it out!!" Well, 2 months later, here I am! I got my first injection of Ilaris today. I was also in tears when I found people that understood what I felt! Because of pages like this I was able to get a diagnosis, and help generations in my family that have dealt with CAPS issues for generations! Good luck with everything! The Facebook page is a great tool to keep in touch as well. :)
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    Jennie39939 published 5 months ago | Originally written in English

    Karen, you're such a blessing putting all these organizations and groups together. I feel like every time I talk to you there is something new to ask my doctor about. :-) I've had MRI scans before but I'm not even sure what they were looking for in them. It was done as part of the study for Illaris. I'm really going to blow my doctor away next time I see her with my new knowledge. It's hard sometimes having to be the one to keep the doctors on their toes, but it's necessary.

    I would love to go to a picnic if I can. I'm sure my family would love it too. Thanks so much for everything and keeping me informed.

    Jennifer
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    karend published 5 months ago | Originally written in English

    Dear Jennifer,

    Thanks to you, and to all the other patients that have joined this forum, and others. With you all, this would not be the same in this community! It is so wonderful to have these ways to connect, and there is so much to be learned about these diseases, and how people live, and thrive with their condition that cannot be found in the medical literature.

    You are too kind! I have to give credit for rarediseasecommunities.org coming about thanks to the hard work of Denis and Rob from EURORDIS, Tai and Mary from NORD, and Paul and the members of AMWS-CINCA in France that were some of the first patients to address the need for such a forum a few years ago, I did get involved in the early phases, and have been pleased to see how this group and the resources have grown to help so many people. I am thrilled to be able to help in any way to get patients, organizations and doctors connected so people can be more informed and empowered patients.

    Paul has been a great inspiration to us in our plans for patient picnics, and I will definitely contact you about that soon. We are in the planning phase and will be sending out information in the next few weeks about proposed places for the picnics, and will be seeking people in various parts of the country to help to get involved in the planning for the events in their area.

    Our org, The NOMID Alliance has learned so much from our work with patients and other organizations, and is here to help you in any way that you need. I appreciate your contributions to this forum, and the ones we have on facebook too. I will be in touch soon, and wish you, and everyone all the best for the New Year!

    Best wishes,

    Karen Durrant
    NOMID Alliance