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.

Journey of a Muckle Wells activist

Written by Paul, published 12 days ago

French patient and president of the Muckle-Wells & NOMID(CINCA) patient association (AMWS) tells of his journey as a patient and rare disease activist in living with Muckle-Wells syndrome. 

From first diagnosis through meeting other patients via the internet, his long struggle with the Social Security for reimbursement of an off-label treatment, his contact with Centers of Reference for Muckle Wells and finally his efforts to create a patient group to help reach out to other patients.

About me

I am 67 years old, retired and a Grandpa of 8 grandchildren.  In 1974 I was hospitalized.  It was a serious crisis, I could not walk, Muckle-Wells Syndrome was diagnosed by an interne in general medicine.  Treated like a "special case" I saw a parade of internes and specialists who all wanted to do their examination.  I also saw this with my family indeed there are now 10 of us to have been diagnosed with Muckle-Wells. Thus, treatment of pain with NAPROXEN (awaiting Marketing Authorization), now Naprosyn.  At that time I was not taking any treatment for the other symptoms.  The care was 100% taken up by the health services in 1974 but abolished in 1980 (cause: not enough spending)

In 1998 we are asked to take part in trials for a new treatment.  After participating in the trial however the case went no further with the sponsor. Since that time I have found out that is was a trial to develop the medication now known as Kineret.

Research on the internet

In March 2006 through the site LACHAINETTE, I registered for this disease.  To my surprise just 15 days later another patient named Sebastien from the South of France writes: "I too have Muckle-Wells and am being treated with Kineret".  I went straight to the rheumatologist: After many tests, and despite his reluctance, he agreed to the medication.

Compassionate use

The pharma company gave me 3 months free access to the treatment (to see if I supported it well) Having started with a daily dose in June 1 2006 I moved to an injection every 2 days in 1 August 2006.

This change in dosage was without notable side effects (just a blood test every 6 weeks and precaution in the event of a minor infection (colds, etc.).  Access to the treatment was via my pharmacist. It was reimbursed 65% by the social security and 35% by my health insurance.  Each injection cost €35.

The battle for reimbursement

The social security began to alert the hospital about this treatment.  In order to get regular reimbursements a request for an "ALD" (long term illness exemption) was made.  A nightmare scenario ensued multiplied by 10 times 10!  The request was refused by the Social Security on Feruary 21, 2007.  Yet, previous to this on December 20, 2006, my doctor received a letter from the consulting physician: "Dear collegue, you are applying for full reimbursement, probably for the treatment Kineret. Yet the treatment in question has not recieved Marketing Authorisation for this indication, thus it can not be supported even in the case of this patient"

On December 21, 2006, my rheumatologist received the following letter: "Dear Collegue.... The treatment does not have Market Authorisation, your prescription must be labeled NR (non reimbursable)". Thanks a lot for the great Christmas present!  I objected and obtained a consultation on May 22, 2007.  The same day the expert also refused my request for "ALD" (long term illness exemption). His expert report which was supposed to have been immediately available to me wasn't sent to me until July 20.  Stupified, it read, I quote:

Discussion: Mr. XXX (That's me....) suffers from Muckle Wells syndrome, treated since June 2006, 3 times a week with Kineret.  The efficacy of this drug has been manifestly proven on his symptoms. Currently the disease treated, does not fall within the exemption for the "long term illness exemption". This disease is at present neither progressing nor disabling, nor of a specific seriousness.

(By the way, just had an idea: since when has a patient with Muckle wells who died of amyloidosis? I actually know of another patient who became completely deaf due to no treatment).  Instead of being disheartened by this decision it simply reinforced my will to continue.  I appealled.  In its report dated October 2, 2007, the Appeals Commission says: "The letter of appeal is highly motivated ... (there are then 3 pages) with the conclusion: the appointment of the expert is in accordance with procedure, the administrative services of the Social Security have made a fair interpretation of the opinion of the expert physician, the report is thus approved ..... What is the point of this Commission if it's just to determine if the procedure of nomination an expert physician has been respected, not to make a medical decision?

Hats off to the Social Security for demoralising the patient!

But that's not all: This patient won't roll over so easily!! I sent a letter Sept. 25, 2007 to the expert physician with a list of all the pain that occurred in August (as everyone knows, during the year in question this was a month more conducive to pain).  His response on the 26th:

I've looked in agreement with Dr X consulting practitioner and your doctor.  I sent my report to the medical service of the Social Security which concludes my mission.  You have filed September 25, 2007, documents that I have seen.  Within the scope of my role there is no remit for me to follow up on my previous report. 

A not so elegant refusal to recognise his error of judgement. He even got €77 from the Social Security for his trouble of which I paid €1!  Maybe he wanted another €77 for the privilege of responding!  Still no giving up for this patient.

Creating a patient organisation

Creation of a patient group called AMWS (association for the assistance to persons affected by Muckle Wells Syndrome, declared and published in the Gazette July 15, 2006 (No. 817), referenced in ORPHANET, and ASA Directory of Associations of Health.

As President (with swollen ankles), I attended the first forum of the alliance of rare diseases, in Avrilé (near Angers).  At that event there was, among other things, Mr. Marc Laffineur Avrillé Deputy Mayor, vice president of the National Assembly, Chairman of the Committee on Orphan Diseases in the National Assembly, and Dr. Alexandra Fourcade, project leader at the Department of health, for rare diseases.

Now that you know my shyness, I sent as President of the AMWS an email to Marc Laffineur, who forwarded it to Alexandra Fourcade, in which I immediately sought clarification by email. I gave him the statement (as above) and she immediately responded:

1. You must consult the coordinator of the Reference Center, Professor Grateau at Tenon Hospital in Paris

2. You must improve the PLSS2007 Article 56 (Social Security Plan)

(For Centers of Reference, if anybody is interested we can come back to that, but know that the Social Security is obliged to grant approval for reimbursement of transportation costs)

For good measure, Alexandra Fourcarde sent copies to the Directorate General of Social Security in Paris and the CNAMTS (National Health Insurance Fund for Salaried Workers).  Not finished yet, be patient as the devil, it took me 11 months to deal with all this!!

The moral of the story: Don't give up!

Not disheartened, I sought and obtained an appointment with the conciliator of the Social Security. After reviewing the refusal of the consulting physician, a document was drafted for national negotiator in Paris and Mr. Jean-Paul Delevoye, Ombudsman of the Republic in Paris.  Since it takes a politician to go through to the Ombudsman, I sought and obtained the help of my Senator.  The Ombudsman has also forwarded the file to the same people as those of Alexandra Fourcade.  Two sources are better than one .... Basically to make a long story short I now have the "Long Term Illness exemption".  I was informed by email on November 23 but ... there is a but, the consulting physician did not give his written consent.  She (a woman) did not appreciate my efforts finally ...... too bad for her, I'm the patient!

Thank you for reading and ah yes, the last piece of information you might find of use, here's the email of the AMWS patient group amws[at]

This patient, too often ill, sometimes demoralized but still fighting

Now with the final agreement of the "Long Term illness exemption" given in December 2007 for a period of 4 years I have access to Kineret. So the moral of the story is don't give up!

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