By Yoni Maisel
Rare disease patients and advocates are well-known for being investigators; the theoretical and applicable knowledge about our disease states that we proactively accumulate often surpasses that of our primary care physicians and, in some cases, can equal that of our specialists.
During his April 4, 2014, podcast on Mendelspod, “Rare Disease Horizons: The Hope of New Research and Technology, Part I: Genomics,” Dr. Eric Topol, the highly esteemed advocate of participatory medicine, said of rare disease patients: “They are empowered, try to stay up-to-date with the latest information, are willing to take action; are proactive.” Pew Research held a similar view when it released its report titled “What People Living With Rare Disease Can Teach Us.” In this wide-ranging report, rare disease patients were crowned by Pew as the undisputed “power-users” of Internet-based medical information.
Stories abound in popular media of rare disease patients becoming full-fledged detectives, immersing themselves in medical literature, poring through research articles, compiling and evaluating data, attending conferences and symposia, all in an effort to obtain the latest information on research, trials, treatments and more. It is information that is not easily obtained from our physicians with whom we might spend a total of two hours within a given year. It is also necessary, oftentimes critical, information which we as patients peruse, sort through, study and, in many cases, disseminate to others; often, we keep our own physicians up to date with the knowledge we imbibe.
Yet, with all of our efforts, there is one thing that often stands in our way: closed-access medical journals. For the rare disease “Sherlock Holmes” or “Miss Marple,” nothing is more frustrating than coming across an article of great importance and relevance and having access only to a limited paragraph-long abstract.
Journal subscriptions range from quite to very expensive. Many journals are stand-alone publications, while others are included in multi-journal databases such as Springer and Elsevier. Most journals have open access if the researcher belongs to a subscribing academic institution. The fact is, however, that rare disease patients most often bear a large financial burden inherent with their conditions, and few belong to academic institutions.
I think rare disease patients need access to up-to-date information from experts. We are frequently the front line of information-gathering and -dissemination. While a doctor might come across one or two patients with a particular rare disorder during the course of his or her career, we know ourselves, we are our own investigators, and we thirst and hunger for disease-specific knowledge - for ourselves and others like us.
This post is a call out to medical journals, both independent and databases alike: Please consider a policy of open access for rare disease patients and advocates. It is highly unlikely that you will be met with a flood of millions of applicants. Rather, you will most likely be met with a limited number of hardcore rare disease detectives - patients who, through the acquisition of knowledge, are simply trying to improve their quality of life.