The unexpected value of patients

It is a special occasion to introduce the new website and new programs of the Familial Mediterranean Fever Foundation and to include you in the initiative – dedicated to the priorities and needs of FMF patients. The pathway that led me to this point will be familiar to other patients. It started with baffling symptoms; excruciating attacks of pain and fever returning unpredictably, relentlessly, unravelling my life. I was more fortunate than most to get a diagnosis of FMF in 2006, about three years after the start of the agonizing attacks. It was a true rescue. Colchicine put an end to the torment and I was able to reclaim a full life. But it was a new normal, different from before, because I knew I had a rare genetic disease associated with Mediterranean ancestry which held many mysteries – first among them, what are the risks to my descendants; followed by, where in my family tree did this come from, and are there other affected members of my family? The questions arising after my diagnosis were different ‐ but no less compelling ‐ than those I grappled with before. Rather than concluding my quest, my diagnosis became the next stage in a journey.

Then in 2009 I experienced what seemed an incredible coincidence (it would only be the first of many). A friend told me she knew another person with FMF – I had never met one. My doctor didn’t even know anyone else with FMF and I was shocked that my friend had even heard of FMF. But I had to follow up on this lead ‐ and sure enough, that is how I met Steve who lives a distant 3,000 miles from me on a rural island in the Pacific Northwest and turned out to be (here’s the coincidence) a neighbor of my brother. Meeting Steve was a watershed moment. He introduced me to the only FMF patient he knew, Jacques, who has been active in the online FMF patient groups. Jacques introduced me to the online FMF patient groups and that is when I took my first tentative step into a patient support community.

This was a whole new world for me because I am an academic researcher with a long career in medical and healthcare research, Professor of Medicine at the University of Virginia – an epidemiologist. When I entered this new world I asked myself, “What do I have to gain, and what do I have to offer?” I viewed a community of patients as the recipient of knowledge and expertise provided by the medical community. But what I found instead was an untapped source of valuable information in which the need to convey information to the medical community was as great as the need to receive it.

The earliest experience in my education was one that continues to seriously impact FMF patients in the US. In 2009 when the FDA banned five established brands of colchicine and replaced them with a single brand, patients revealed in this crisis that they responded variably to different brands of colchicine and that they needed access to multiple brands in order to achieve a satisfactory therapeutic response. Although this problem came to light in the US, it is an issue of importance to FMF patients in every country. It is notable that this phenomenon was first observed by patients and subsequently reported to the medical community. And it is still patients who are grappling with the regulatory obstacles that limit access to colchicine.

These observations completely changed my perspective on the nature of patient communities – particularly those representing rare diseases in which sources of information are harder to come by and every observation by patients stands to add value. My perspective now is that FMF patients have a unique and invaluable contribution to make to progress in diagnosing, treating and all aspects of living with FMF. I am bringing my experience as a research scientist (read my bio) into the patient community and introducing a platform that I have designed, Disease Community Viewpoint Research (DISCOVR) that brings patients into the discovery process as co‐investigators. It is a truly novel venture. I have said many times that most of what I know about FMF I have learned from other patients – foremost is that we are our own most valuable source of knowledge and agents for change. This is the bedrock of the road ahead. I look forward to a fascinating journey of learning from each other.


Janine Jagger, M.P.H., PhD.
President and Founder of the Familial Mediterranean Fever Foundation

By |2019-05-11T23:17:44+00:00September 20th, 2017|Uncategorized|

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