It’s the “nature-of-the-beast,” so to speak, when you have a rare disorder that affects one in 10,000, 100,000 or million individuals. The same applies if you are a family member of said individual, or advocate. Rare disease patients and advocates are well-known for being investigators; the theoretical and applicable knowledge which 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,” the highly-esteemed and most noted advocate of Participatory Medicine, Dr. Eric Topol, 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 no different a view when it released its report “What People Living With Rare Disease Can Teach Us.” In this wide-ranging report, rare disease patients were crowned by Pew 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 being sought which is not easily obtained from our physicians with whom we might spend a total of two hours with in a given year. It is necessary, oftentimes critical information which we as patients peruse, sort through, study, and in many cases disseminate to others; in many cases, we keep our own physicians up to date with the knowledge we imbibe.
Yet, with all of our efforts, there is one thing which 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” journals while others are included in multi-journal databases such as Springerand 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.
Rare disease patients need access to up-to-date information from experts. We are, as so often is the case, the front-line of information gathering and dissemination. While a doctor might come across one or two patients with a particular rare disorder in their career, we know ourselves, we are our own investigators, we thirst and hunger for knowledge – for ourselves and others like us.
This post is a call 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,” medical investigators who, through the acquisition of knowledge, are trying to improve the lives of themselves and others.