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• 
  robpleticha | published 13 days ago | Originally written in English Jack from Ireland

  Aisling wrote a nice piece here about Jack who has CINCA/NOMID and Downs Syndrome, hope the trips to Crumlin become less and new places for support become available

  www.cmrf.org/story/show/66
• 
  Judith | Medication, FCAS, Rilonacept | published 22 days ago | Originally written in English Arcalyst/Rilonacept

  I was diagnosed with FCAS earlier this year and have been on Arcalyst for about three months. At first it seemed like a miracle, but now I am experiencing some breaking out. My current dose is 160 mg a week. My rhematologist seems reluctant to increase the dose, but, frankly I am his only patient with this disease. So, we are both pretty much in the dark regarding treatment. Are there physicians that specialize in this disease? Does anyone have information that might assist me? I live in the northern part of Texas if that will help.
  Thank you, Judith
  6 replies to the topic — see all replies

  • 
    karend published 20 days ago | Originally written in English

    Dear Judith,

    There are many experts for CAPS, but your area of Texas I am not aware of any at this time. I am currently in the hospital this week with a serious illness, but would like to talk with you when I am better about some options for doctors.

    For now, I would recommend that your doctor consult with Dr Hoffman, as suggested at UCSan Diego on dosing. You can have a higher dose, and it has been researched. This will help you.

    Also take a look at the website for arcalyst on Regeneron.com for info.

    If you can send me an email to karen.nomidalliance.org it will be easier for me to connect you with doctor's, since I am in the hospital on an iPad for now. I then can answer you better when I am well. The good news is that there are 3 medications in the US that can help, in case you need to try a different option. All work very well for CAPS. We have info about all 3 medications on our website nomidalliance.org in the Learn area under CAPS treatments, and links to the drug info and websites for each medication.

    Best wishes,

    Karen
  • 
    Judith published 18 days ago | Originally written in English

    Dear Karen,

    I am truly sorry that you are in the hospital. I pray that you will recover quickly and go home soon!
    I have tried to send you an email and have not been able to get it delivered.
    I will give Dr Hoffman's info to my rheumatologist this week. Perhaps by my appointment in mid June
    he will have some options on medications. Thank you so much.

    Sincerely,

    Judith
  • 
    karend published 17 days ago | Originally written in English

    Dear Judith,

    So sorry! I was so sick I did not put my correct email address up! It is karen.nomidalliance.org@gmail.com or you can email through our contact us area on our website, nomidalliance.org So sorry for that, and thanks for the well wishes.

    Please try to email it again! I will try to find some doctors closer to you. I do know that some people have found doctors in other areas of the state, but very few have found anyone with much experience with CAPS. There are some doctors in MO, OH, and GA, and also Dr Hoffman in San Diego, CA. Here is the info for DR Hoffman so your doctors can contact him:

    Dr Hal Hoffman
    9500 Gilman Drive, Room 5086
    La Jolla, CA 92093-0635
    Tel: (858) 534-2108
    Fax: (858) 534-2110
    E-mail: hahoffman@ucsd.edu

    He has the most patients with FCAS, and also discovered the gene for CAPS! He has done research with all the current medications for CAPS, and would be a good resource for your doctor. He went to Med School at U.Texas at Galveston, so he may have some suggested doctors too.

    I went home from the hospital with a PICC line to keep giving myself IV medications from home for the next 2-3 weeks. (I am also an RN). It is a long story, and the infection was very severe in an area that had previously had surgery and radiation for breast cancer, and I almost had to have more surgery for this! I do not have CAPS, (my middle son does)so this was not CAPS related. However,t I was so sick that my C-reactive protein, ESR and other labs were as high as many with severe CAPS, and boy did I feel horrible from inside my bones, muscles to my head from the inflammation, along with a high fever! I can only imagine what it must feel like for people with CAPS, which is different, but people suffer really bad every day.

    I hope that we can connect and help you through email too.

    Thanks,

    Karen Durrant
    nomidalliance.org
• 
  linnnorway12 | Meetups, FCAS | published 17 days ago | Originally written in English FCAS

  Hey in english :we have a boy of almost 2 years. He started with his illness when he was about 1 year. high fever, pain in joints and muscles. swelling of the joints. this was every time he was out in the nursery. he was ill at the time about 5 days a week. After many tests at the hospital they believe now that he has the disease FACT. Doctors know little about this and we now hope to find others who have children with this disease. He can hardly stay out without getting sick. (Ten minutes in air at 12 degrees makes him sick with fever and pain)I hope here we can get in touch with others from Norway, Sweden, Denmark or other countries who know little more about this and how everyday life can be with FCAS
  3 replies to the topic — see all replies

  • 
    karend published 17 days ago | Originally written in English

    Dear Linn,

    Do you mean FCAS (Familial Cold Autoinflammatory Syndrome)? FCAS is a form of Cryopyrin-Associated Periodic Syndrome (CAPS). I have looked online and there are some doctors in Sweden that have patients with various forms of CAPS. One doctor that was involved in this research is Dr Deepti Verma deepti.verma@liu.se in Linköping, Sweden. I have not been able to find out any information for any patients in Norway yet, but there must be some there too.

    There are likely more patients with these diseases in your part of the world, and you can connect with anyone in the world here on this group too! If you need anything, please send me an email at karen.nomidalliance.org@gmail.com I am the president of The NOMID Alliance, and organization for patients with CAPS and other autoinflammatory diseases. We have information in English on our website www.nomidalliance.org that also includes information about FCAS.

    There are medications that work very well for helping patients with these diseases. This includes anakinra, that is used off label for CAPS, and is made by Swedish Orphan Biovitrum (SOBI). Also, the drug Ilaris is made by Novartis, and works well for patients with CAPS. These medications help patients to be able to have less symptoms, and many can often can be free of the pain and symptoms most of the time, even if they are exposed to cold or cooling temperatures! I am sorry that your son is suffering, and I am hoping that the doctors can help him to get the treatment that he needs. I would suggest having your doctors contact the doctor in Sweden that I mentioned above, to get some help and I can also help you to connect with other experts in other countries that are very knowledgeable about these diseases, and treatments.

    My middle son has a form of CAPS, and used to suffer almost daily from terrible symptoms, but he has been doing very well since he started medications at the age of 4 1/2 years old. Now he rarely has trouble, as long as he is on the right dose of medications, and lives a very good life. He is now 12 1/2 years old, and can tolerate being in cold weather and many other situations without having attacks of his disease. Also, he has not lost his hearing or had any permanent damage to his body since he went onto medications.

    I am going to try to translate this message into Norwegian for you, but I am not sure if it will be very good! I am using google translate.

    Best wishes,

    Karen Durrant
    nomidalliance.org

    Kjære Linn,

    Mener du FCAS (Familiær Cold Autoinflammatory syndrom)? FCAS er en form for Cryopyrin-Associated Periodisk Syndrom (CAPS). Jeg har sett på nettet og det er noen leger i Sverige som har pasienter med ulike former for CAPS. En lege som var involvert i denne forskningen er dr. Deepti Verma deepti.verma @ liu.se i Linköping, Sverige. Jeg har ikke vært i stand til å finne ut noe informasjon for eventuelle pasienter i Norge ennå, men det må være noen der også.

    Det er sannsynlig flere pasienter med disse sykdommene i din del av verden, og du kan koble til hvem som helst i verden her på denne gruppa også! Hvis du trenger noe, så send meg en mail på karen.nomidalliance.org @ gmail.com Jeg er president i NOMID Alliance, og organisasjon for pasienter med CAPS og andre autoinflammatory sykdommer. Vi har informasjon på engelsk på vår hjemmeside www.nomidalliance.org som også inneholder informasjon om FCAS.

    Det finnes medisiner som fungerer veldig bra for å hjelpe pasienter med disse sykdommene. Dette inkluderer anakinra, som brukes av etiketten for CAPS, og er laget av svenske Orphan Biovitrum (SOBI). Dessuten er stoffet Ilaris laget av Novartis, og fungerer godt for pasienter med CAPS. Disse medisiner hjelpe pasientene til å kunne ha mindre symptomer, og mange kan ofte kan være fri for smerter og symptomer mesteparten av tiden, selv om de blir utsatt for kulde eller nedkjøling temperaturer! Jeg beklager at din sønn lider, og jeg håper at legene kan hjelpe ham å få behandling som han trenger. Jeg ville foreslå at dine leger kontakte lege i Sverige som jeg nevnte ovenfor, for å få litt hjelp og jeg kan også hjelpe deg å få kontakt med andre eksperter i andre land som er svært kunnskapsrik om disse sykdommene, og behandlinger.

    Min midten sønn har en form for CAPS, og brukes til å lide nesten daglig fra forferdelige symptomer, men han har gjort veldig bra siden han startet medisiner i en alder av 4 1/2 år gammel. Nå har han sjelden problemer, så lenge han er på rett dose av medisiner, og lever et veldig godt liv. Han er nå 12 1/2 år gammel, og kan tolerere å være i kaldt vær og mange andre situasjoner uten angrep av sin sykdom. Også har han ikke mistet hørselen eller hatt noen varig skade på kroppen hans siden han gikk på medisiner.

    Jeg skal prøve å oversette denne meldingen til norsk for deg, men jeg er ikke sikker på om det vil være veldig bra! Jeg bruker google translate.

    Beste ønsker,

    Karen Durrant
    nomidalliance.org
  • 
    linnnorway12 published 17 days ago | Originally written in English

    hey! thanks for the reply :) Yes CAPS was incorrectly written there, sorry. there have never been so easy to find good information here in Norway. doctors do not have much experience with this disease. winter in Norway is long and we do not know how hot it will be out that our son could be out there. does anyone have experience with this? we are considering traveling to a warmer country for a period to see if it can help. Are there any others must too? Read that most people who have CAPS start medication after they are 4 years old. Is it normal to have to wait so long?
  • 
    robpleticha published 15 days ago | Originally written in English

    Hi Linn,

    My name is Rob and I work with EURORDIS.

    Here is a Scandinavian rare disease portal: rarelink.no/

    Unfortunately, I do not think there is any information on FCAS, or CAPS there, but perhaps you can have another quick look.

    Also, I recommend contacting the Frambu Centre for Rare Disorders, outside of Oslo:
    frambu.no/

    They organize courses on various rare diseases, and perhaps they can offer some ideas of how to find others in Norway.

    Please post again and let us know how it is going.
• 
  carew52 | published about 1 month ago | Originally written in English Number six....his name is archie

  In February nephew number 3 was born. He showed no sign of rash and yet the blood test for muckle-wells came back recently as positive, bringing our family number of cases up to six.
  3 replies to the topic — see all replies

  • 
    paul published 24 days ago | Originally written in French

    Bonjour Sonia,

    votre neveu, est hélas atteint du muckle-wells, mais il a de la chance d’être né dans une famille qui connait bien la maladie. Il pourra donc être soigné sans subir toutes recherches , les analyses et les errances médicales.

    dans notre famille nous connaissons aussi cette situation, car nous sommes onze atteints. Les trois petits derniers ont été immédiatement suivis par les centres de référence en France et ont donc bénéficier des traitements.

    Ils se portent très bien, aucun problème de développement physique et à l'école tout se passe bien.

    atteint de surdité, un des petits, avec son traitement a abandonné ses prothèses auditives, donc les traitements soit avec le canakinumab (ilaris) ou l'anakinra (kineret) sont très efficaces.

    bienvenue à Archie et amical bonjour à toute votre famille.

    Paul (président AMWS-CINCA www.amws-cinca.eu)
  • 
    karend published 24 days ago | Originally written in English

    Dear Sonia,

    Thanks for your post! Sorry I did not see it sooner. Congratulations on a new nephew! I am sorry he has the MWS mutation, but that is encouraging that he is not showing signs of the disease....yet. Paul is right that it would be good for this child to be watched closely, and treated if symptoms present in him, so he will be healthy and not suffer from hearing loss, or other permanent damage from MWS inflammation. Most people with MWS do have symptoms at birth, or in early infancy, but there are a few that have symptoms when they are a bit older. So time will tell if he has any MWS symptoms. The good news is that your nephew and the rest of you know about this disease, and that there are treatments that can help so he will not have to suffer so long, compared to many others in your family. Did you ever find out if you are related to the other family with MWS in Australia? I think that we tried to make that connection so you all could "compare notes" and family geneology!

    There are a few other mutations that have some family members that have the mutation without symptoms, but most have symptoms of CAPS. If you are willing, could you share what your mutation is for MWS? You can email it to me privately if that is better, since that information is personal at: karen.nomidalliance.org@gmail.com because there are a few mutations in the NLRP3 (CIAS1) gene that causes CAPS that are considered low-penetrance mutations, and at least one of these mutations can be seen in some families that have people with symptoms, but a few members in the family can have the mutation but do NOT have CAPS symptoms! IT is called V200M, (also called V198M). Here is an article about that mutation, and others: onlinelibrary.wiley.com/doi/10.1002/art.10...

    With V200M, there are cases in families where some have symptoms of CAPS, and others in the family carry the mutation but do not have symptoms. This mutation is also found in people in the general population that do not have any CAPS symptoms, so it is a very complex, and confusing situation for patients that have this mutation, and have symptoms! The good news is that most with that mutation do not have severe CAPS disease, but it can vary greatly. There are more things going on in the body, and in our genes and cells that are yet to be discovered to explain CAPS and other diseases.

    If you have a different mutation, that would be interesting to learn about too. You can go to this site to learn about some of the known CAPS mutations: fmf.igh.cnrs.fr/ISSAID/infevers/search.php... Click on the white "see details" button to learn more about each mutation, and what are the commonly associated forms of CAPS with each mutation. ( If you are looking for V 200M it is under V198M)

    I hope that this is helpful!

    Thanks,

    Karen Durrant-nomidalliance.org
  • 
    karend published 20 days ago | Originally written in English

    Sonia,

    Thanks for your email. I will write you back next week, as I ended up getting very sick this week and am in the hospital.

    Thanks,

    Karen
• 
  robpleticha | Meetups | published about 1 month ago | Originally written in English Canadian CAPS Meeting

  Save the Date, June 2, 2012, in Toronto:
  raredisorders.ca/documents/SAVETHEDATEnoti...
• 
  AllieFreitas | published 4 months ago | Originally written in English Do any of you that have CAPS in your family have some people that are more affected than others in the family?

  This abstract is about 2 siblings with atypical mutations for CAPS, and one sibling had more symptoms than the other, even with the same mutation.

  www.ncbi.nlm.nih.gov/pubmed/20506209

  Thanks to Karen for passing this along!
  4 replies to the topic — see all replies

  • 
    paul published 4 months ago | Originally written in French

    Bonjour Allie et Karen

    bonne et heureuse année en ce début 2012.

    je connais une famille qui ont le mws et n'ont pas la même perception de la maladie

    tous sont soignés avec le kineret ou ilaris

    certains malades sont appareillés avec des prothèses auditives, d'autres n'ont pas de problème d'audition

    avant le traitement (puisque maintenant les autres symptômes ont disparus), certains avaient fréquemment de l'urticaire violent, d'autres beaucoup moins.

    même chose avec les douleurs articulaires et les conjonctivites.

    certains ont aussi des aphtes et de l'eczéma et d'autres non. Pourquoi ?

    aucune recherche spécifique n'a été effectuée sur ces différences de symptômes.

    je ne pense pas qu'il y aura des recherches puisque toute cette famille est soignée correctement.

    Elle est régulièrement suivie en alternance par un centre de référence et par un centre de compétences.

    je ne sais pas si ces renseignements vous serons utiles.

    bien amicalement à toutes les deux.

    Paul
  • 
    karend published 4 months ago | Originally written in English

    Dear Paul,

    Thanks for this comment, You do know first hand how much this disease can affect families in so many ways! It is very interesting that some people have eczema too, as my son has had that too. I have heard from others with it, and a few that also are suffering from mouth ulcers, which is not often noted in the medical literature. So this is very important information for patients to know that this is possible, and that they should mention it to their doctors! Thanks Paul. I am going to share that information with a few patients. Thanks to all that are sharing and helping with this very helpful forum for patients.

    Best wishes,

    Karen
  • 
    carew52 published about 1 month ago | Originally written in English

    Speaking from our own family I have to say it does seem to present itself in slightly different ways in all of us. My sister is the only one so far with painful joints, I was the one who seemed to cop the fevers and nausia the worst and my Dad's hearing was shot pretty young. Our youngest and newest member, only a couple months old has yet to sign any sign of rash though his blood test is positive.
• 
  karend | published about 1 month ago | Originally written in English Announcing Autoinflammatory Disease Patient Picnic locations in the US

  We are in the process of contactingeveryone that did our survey about the autoinflammatory disease picnics, to announce the locations. If you have not heard from us yet, your email will be coming this week! The locations for picnics are:
  -Greater Chicago, IL area
  -Minneapolis, MN
  -2 locations for Ohio (Cleveland &Cincinnati-Columbus)
  _2 in Missouri (one nearer St. Louis, & near Cape Girardeau)
  -Southern CA
  -Northern CA
  -Greater Boston, MA (people from NH and RI too)
  -Greater New York city area (PA, NJ, and NY people invited
  -Georgia area (also inviting people from Alabama)
  -North Carolina
  -working on something for TN and KY people
  -Maybe Washington state (we need some more people interested, but there are a few)
  If you haven't done the survey, send me a message if you are interested. karen.nomidalliance.org@gmail.com Thanks! We will have facebook events up too. Thanks to all responding back to me-I will be writing back to all tomorrow (at my RN job the first half of this week.) We really appreciate your help.

  Thanks,

  Karen Durrant
  nomidalliance.org