I’ve been following Bertrand Might’s story for a few years through his parents’ blog about his “movement disorder” (which turns out to be related to his incredibly rare condition, NGLY1 deficiency).
Last week, Matthew Might co-authored a commentary with Matt Wilsey in the journal of the American College of Medical Genetics and Genomics: “The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.”
Until very recently, the fragmented distribution of patients across institutions hindered the discovery of new rare diseases. Clinicians working with a single, isolated patient could steadily eliminate known disorders but do little more. Families would seek clinicians with the longest history and largest clinic volume to increase their chances of finding a second case, but what does a physician do when N = 1 or if the phenotype is inconsistent across patients?
Answer: They search online. They find a blog post. They find each other.
People who were isolated, who probably would never have found the answers to their questions, are able to connect thanks to the confluence of new genetic testing, easy access to publishing platforms, and ever-improving search algorithms. It seems like magic, especially if you’re new to peer-to-peer health care.
It is cases like this one which inspired me, in 2011, to write, “The internet gives patients and caregivers access not only to information, but also to each other.” It is also why I tell people, “the most exciting innovation of the connected health era is people talking with each other.”
And this is why people were so disgusted by Bill and Emma Keller writing about patient blogs as an example of our over-sharing culture. There is no such thing as over-sharing when you are pursuing hope “like it’s an outlaw.” To say otherwise is to deny people the chance to change the way we practice medicine, for the better.
I look forward to the day when people connecting online doesn’t look like witchcraft to outsiders. Until then, let’s all keep practicing our every-day magic.