Why have rare diseases been so disproportionally represented in the world of internet-based online medical communities since the early 90s? Is there a unique reason to explain why so many of the rare disease patients understood long before anyone else the importance of the wisdom of crowds. Could it just be explained by the long tail in medicine?

I believe that faced with the tyranny of Pareto’s Principle these patients instead got empowered by the Paradox of Rarity.

Pareto’s Principle, also known as the 80/20 rule, guides most of the current medical system as well as the work designed to change and improve the healthcare system. That leaves all those suffering from unusual and complex diseases out in the cold, almost obligated to become e-patients (equipped, enabled, empowered, engaged, equals, emancipated and experts) if they want to optimize their chances to survive the disease.

Pareto’s Principle notes that, for many events, 80% of the effects come from 20% of the causes. It applies to many situations, in all industries, from software to health.

One of the applications of the 80/20 rule in health care is that “20% of patients in a defined population account for 80% of the work and may incur 80% of the costs”. Ted Eytan confirmed that “this data is pretty easy to confirm because it’s based on health care claims, and it is repeated again and again.”

Let’s take diabetes. It is not only common and serious; it is also a very costly disease. It has become an epidemic that affects one out of every 12 adult in the US. Since 1994, the number of people who have diabetes has more than doubled, and it is likely that number will double again by the year 2050.

The cost of treating diabetes is staggering. According to the American Diabetes Association, the annual cost of diabetes in medical expenses and lost productivity rose from $98 billion in 1997 to $132 billion in 2002 to $174 billion in 2007.

One out of every five U.S. federal health care dollars is spent treating people with diabetes. The average yearly health care costs for a person without diabetes is $2,560; for a person with diabetes, that figure soars to $11,744.

Much of the human and financial costs can be avoided with proven diabetes prevention and management steps. A further use of the 80/20 rule helps explain why 20% of the diabetes patients, many of them “Frequent Users”, are responsible for 80% of the costs associated with its treatment.

Pareto’s Principle also applies to the general population. 20% of the patients suffering from chronic diseases (hypertension, diabetes, vascular diseases or mental illness are incurring 80% of the costs.

This tyranny of Pareto’s Principle in healthcare leaves very little room for anyone suffering from a rare disease (defined as any disease considered to have a prevalence of fewer than 200,000 affected individuals in the United States). It is worth noting that most cancers, including all cancers affecting children, are rare diseases.

With a growing financial crisis, an extremely high rate of inflation in healthcare costs and shrinking funds why would any healthcare system administrator spend any money on a small group of patients when they have learned and tested the fact that 20% of their work produces 80% of their results. Indeed, it seems very logical to spend instead on the large chronic diseases where changing the outcome of the 20% most expensive patients can make such a drastic change. Similarly why would any primary care physician ever learn to diagnose leiomyosarcoma if they are unlikely to ever see a single case, while they see diabetes patients all the time. It is no surprise you end with a large segment of the population suffering usually from serious and usually growing health problems, unable to get a diagnosis for months or years. Anyone suffering from any of these disorders will find out in time the plain and UNIVERSAL sad truth: there are very few true expert clinicians able to diagnose AND treat these disorders. The hospitals usually do not know how to deal with these patients and are almost never able to put in place the team of physicians necessary to provide optimal care, unless they have on-board one of the true experts who knows what are all the necessary sub-specialties to optimize care.

Most of the ACOR online communities are focused on one type of cancer, usually a rare type. Let’s mention just a few of them: testicular cancer, renal cell carcinoma, GIST, carcinoid, ovarian cancer, multiple myeloma or leiomyosarcoma. Not surprisingly the archives of the ACOR system are an incredible accumulation of the painful stories of patients misdiagnosed for months or years and then unable to receive satisfactory treatments upon diagnosis. Many of these communities were started in the mid-90s, long before anybody ever uttered the 2 words “social network”. Close to 15 years later some of these communities have close to 3,000 members reading the daily exchanges that typically fall squarely in Pareto’s Principle: 20% of the members are responsible for 80% of the content!

But wait a second! The Office of Rare Disorders speaks of 6,000 rare diseases. Eurordis, the great European organization, mentions about 7,000 such diseases. ORD speaks of 1 American in 10 suffering from a rare disorder, while Eurordis mentions between 6 & 8% of the European population. The numbers are staggering. As Eurordis says:

“despite the rarity of each rare disease, it is always surprising for the public to discover that according to a well-accepted estimation, about 30 million people have a rare disease in the 25 EU countries. This figure is equivalent to the combined populations of the Netherlands, Belgium and Luxembourg”.

While these diseases are rare, rare diseases patients are many. It is therefore “not unusual to have a rare disease”. This paradox of rarity explains why ACOR has served over 1/2 million people since it started! Does it remind you of Chris Anderson’s Long Tail? No wonder that we are seeing lately questions such as “Can We Crowdsource Medical Expertise?”

But why did we build so many communities for rare cancers? There are at least 150 rare cancers, probably many times this amount as we learn to differentiate better small mutations and their consequences, further classifying diseases in smaller and smaller groups. For most of these individual diseases, there were/are few or no treatment or cure and there was/is often little or no ongoing research. In the 90s there was no centralized system to look for clinical trials. Before PubMed became easily accessible, there were no easy source of scientific information related to these diseases. The individuals affected by these rare diseases often were very disheartened. Still today it appears that most federally funded institutions are not concerned by these patients. You still have a large population of people not served well by their healthcare system. In 1995 it was already apparent that many of the early users of the limited medical online communities were asking about unusual symptoms and asking about rare diseases. An independent witness to these early exchanges could easily spot the great need to create disease specific communities to help all those suffering from a rare cancer by being warmly welcome by others shouting this seminal phrase: “Sorry to see you here, but glad you found us. YOU ARE NOT ALONE!”

As soon as people discover an online community for their disease, they understand the power of organization and they often talk of developing an advocacy organization offering workshops, fundraising, information and tissue banks, finally providing hope that advances in research will be made in the not too distant future. The most successful communities/organizations are even talking or controlling the research agenda and to be in the driver seat, funding the next clinical trials based on the priorities their members have decided.

Early in the development of ACOR I noticed how many of the groups we launched resulted in the creation of advocacy organizations for their disease. This was clearly the first effort ever to organize around a disease and the energy it generated was always palpable. Group after group the same story repeated itself. First no one could believe how powerful they had instantly become just by having broken the feeling of isolation. I surmise that very, very few doctors have ever thought of the medical impact of feeling isolated but I can assure you (Dave, can you confirm?) that even though feeling part of a strong community may or may not alter your ultimate survival, it does have a very profound impact on your Quality of Life!

When the groups reached hundreds of subscribers they started talking about organizing and within a year or two an advocacy organization grew up of these initial conversations. More often than not, within an additional couple of years, you had both an additional advocacy organization and an additional online community for the same disease. Too many strong personalities and too many people who just “know how to make it work better”. Nonetheless all these organizations and the online communities have profoundly transformed the patients experience. And they continue to do so, constantly able to bring in the next level of help.

For example, the main role of the ACOR medical communities, to provide access to the validated information regarding the disease and ALL its available treatments, has to be in constant flux. While in the early 90’s it was usually fulfilled by helping people find rare information, today’s activities have evolved into providing high quality filters to help members navigate through the glut of available material, written or multi-media.

Most people, before they join such a group, will complain of the internet as a source of too much information of unequal quality and hard to assess. But as Jon Lebkowsky wrote earlier: ‘the community and its members, through history of interaction, form reputation – you have an idea how “smart” they are about their subject of focus.’ Or as Samantha Scamaliero summed it up MANY years ago:

“List members-layfolk and professionals alike-have moved beyond the old, obsolete mindset that holds that only certain ‘qualified’ medical professionals may create and disseminate medical information. We layfolk are learning that we are qualified through our experience, our knowledge and our concern. We now see that we are capable of contributions no professional can make and that by linking our efforts [with those of professionals] in a coordinated team, we can advance the well-being of all.”