An OA Week guest post by patient advocate Christy Collins
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. Signe had already been given another, incorrect diagnosis. There was a stressful two month wait to see a geneticist to confirm this new and more severe diagnosis, which was done in the course of a very short visit. All of the information that I had at that point was from a group of families on Facebook. The geneticist sent a report to our primary care physician, which contained about four paragraphs.
Unsatisfied with this amount of information, our family trekked to another geneticist 12 hours away who had seen a lot of cases of M-CM and knew about as much as anyone could about it. The theme of our visit became “we don’t know”. 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. I’ve linked to minute 16, where Josh Sommer of the Chordoma Foundation is describing the difference between what many people expect of patient organizations, and a more powerful role that patient organizations can play. The relevant part is about four minutes long and it ends with an anecdote about scientists working with invalid cell lines: “Maybe the rules say, patients aren’t supposed to get their hands in the nitty gritty of what cell lines a researcher’s using. They’re supposed to just raise money and hope that the researchers know what they’re doing. But in many cases, because the incentives that we as patients have are different and are aligned absolutely and solely with finding a cure, it is important that patients and organizations that represent patients, play a more active and hands-on role and get into some of the nitty gritty that maybe researchers in the past would have said was off-limits or out of bounds for patient groups.”
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.
Christy Collins is the president and a founder of the M-CM Network, a research and advocacy organization for macrocephaly-capillary malformation syndrome.