Open Access From a Patient Advocate’s Perspective: “Inserting Ourselves into the Science of a Condition” | PLOS Blogs Network

"My daughter, Signe, was born with a very rare genetic condition called macrocephaly-capillary malformation syndrome or M-CM. This syndrome features a variety of congenital abnormalities and progressive overgrowth of the brain. Signe is now three years old. She was diagnosed by me, via information from the internet at four months of age... During questioning about a suggested cancer screening protocol and if it was demonstrably necessary, I dug in and asked, 'how will anyone ever know?'. The answer given was that a longitudinal registry to track a large number of patients over time could not only answer the question of cancer risk, but also many of the other unknowns.  I’ve since learned that it could also be important for drug development. After some deliberation, and influenced by the work of a few other disease advocacy organizations, we decided that this registry needed to be advocacy owned, to make it’s data widely accessible and silo-free. We created an organization, the M-CM Network, for this specific purpose. Disease organizations can have many kinds of missions that are not directly involved in science, but we chose working directly on science as the primary driver of our activities. Social media played a big role in this decision. The Facebook community for M-CM is broad, experienced, compassionate and wise.  With no overhead and very little centralized effort, it fulfills many of the functions that advocacy organizations have traditionally taken on.  Formal scientific understanding of M-CM is so poor right now that this community unquestionably knows more about clinical aspects of the disease than researchers do.  We see one of our roles as translating the collective knowledge and data of the patient community into formats that researchers can use. I love this video from a Partnering for Cures 2011 panel about patient activism... If you buy into the idea that the most effective thing a patient organization can do is insert themselves into the science of their condition, then it stands to reason that patient organizations need access to published research. Unfortunately, it seems like biomedical research in rare genetic diseases is at the back of the open access train. My appeal for open access publishing to a group of the most significant US researchers for M-CM was met with some sympathy followed immediately by apologetic refusals. It is very unusual that any paper that I look up for M-CM or other related conditions is not paywalled. That said, the papers with standard per-article fees seem downright charitable compared to some that I have come across recently with $35 24-hour access fees. Perhaps those exist specifically to mock those of us without subscription access.  I am grateful to the open access and open science movements for encouragement and inspiration. I often wonder how advocates can be more actively pushing biomedical research toward open science.  If I were to ask something of the open access movement in this regard, it would be that it more directly engage patients. Patients are pretty nearly everyone, and patients are outraged when they understand that they can’t access research about their conditions. Give patients tools for engagement, education about the dynamics of scientific publishing and opportunities to take action."