CAPS community

CAPS or Cryopyrin Associated Periodic Syndromes are a group of auto-inflammatory rare diseases (MWS, FCAS & NOMID). Below, you'll find testimonies of patients who live with them.

Living with Muckle-wells

Written by carew52, published 9 days ago.

The life story so far.

I'm 29 and earlier this year my brother was lucky enough to find out about muckle-wells. In hunting for a cause to infertility problems and his constant high white blood - low red blood cell count, he somehow stumbled across a doctor who uncovered muckle-wells as a probable cause when coupled with all our other symptoms.

The hives like rash, the red-eyes, the sensativity to cold weather, hearing loss, lack of enengy, low fertility, high white blood count and even joint pain. Suddenly the flurry of what we'd thought to be un-related problems fit under one very neat little box.

Though my brother found the cause, it was my older sister who followed it up the quickest. Her main focus being my neice who'll soon turn two, displaying all the classic signs of muckle-wells as well. She was the first to get bood taken for genetic testing, quickly followed by my Dad and my brother.

I intially help back, mostly becasue of job and cost issues then lack of desire. I figured there would be no real harm in waiting for someone elses results to come in.

Three months later, June, my Sisters and then my fathers results came back positive. For some reason or rather it was found out my brothers test was still sitting on a cooler shelf somewhere and more or less forgotten about.

With positive results and in a better finanical position I then when to get an appointment. Within a couple weeks my sister got a trial treatment of Anakinra, she did so well on it she became pregment. A pleasant shock, especially after the years of fertility and IVF she went through to get Natellie. Still, this meant she felt it would be best to stop treatment until after the birth of her second child.

My father had already booked and planned for a extended holiday and my brother was still awaiting his test results which left me. With two relatives proven to have muckle-wells and having all the symptoms, I found myself rather abruptly given approval for drugs before knowing my test results. This resulted in my brother rather hurriedly changing over to my doctor.

Now I've being on Anakinra for two months, my brother has being on treatment about two weeks and now my father is back from holiday he should be on drugs before the end of the year. Meanwhile my poor sister, despite being first on drugs, will have to wait before she can go back on again.

In amounst all this, we have welcomed my brothers son into the family and only a couple days ago we got the blood results back to find out he at least hasn't inherted this defective gene. My doctor meanwhile is seeing if he can get his hands on drugs that don't require daily injections. Still, though daily injections are a hassle I've adapted so quickly to being free of symptoms, I'd rather that then go back to how things were.

Written by carew52, published 9 days ago.

Patient groups

  • NOMID Alliance

  • AMWS/CINCA

CAPS Recent Activity

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    Cryopyrin-Associated Periodic Syndrome: An Update on Diagnosis and Treatment Response
    news, published 9 days ago

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    This link will take you to the full text article.

    Abstract:

    Cryopyrin-associated periodic syndrome (CAPS) is a rare hereditary inflammatory disorder encompassing a continuum of three phenotypes: familial cold autoinflammatory syndrome, Muckle-Wells syndrome, and neonatal-onset multi...

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    Canakinumab (Ilaris):
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    topic, published about 1 month ago

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    We are delighted to welcome you to this platform which we hope you will find useful as a place to share with other patients and families living with CAPS. Please feel free to contact us at any time to let us know what you think of this online tool or to suggest improvements.

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    Video on CAPS
    topic, published about 1 month ago

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    Hi,
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    Clinical Outcomes and Safety: A Registry Study of Ilaris (Canakinumab) Patients
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    Status: Recruiting, Condition Summary: Cryopyrin-associated Periodic Syndromes (CAPS); Familial Cold Autoinflam Syn (FCAS); Muckle-wells Syn (MWS); Neonatal Onset Multisystem Inflam Disease (NOMID)

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    Objectives: - To determine the effectiveness of XOMA 052 as a treatment for inflammation in adults with the autoinflammatory diseases Familial Cold Autoinflammatory Syndrome (FCAS)/Muckle-Wells Syndrome (MWS) and Behcet's Disease.

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    INTRO
    topic, published 2 months ago

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    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 t...

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    Democrat unites two families affected by rare syndrome - Dundalk Democrat
    news, published 3 months ago

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    Democrat unites two families affected by rare syndrome Hannah was diagnosed with Muckle Wells in November 2009 and Michele's nine-year-old daughter, Sophia, was diagnosed with the same syndrome last June. ...

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    Facts about CAPS
    document, published 3 months ago

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    Your guide to learning about CAPS from the Canadian CAPS Network.
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    AMWS Patient Organization Brochure
    document, published 3 months ago

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    In French language.