Preliminary description – further details coming in summer.
There is a frontier at the edge of knowledge…
…and at that frontier, humanity is constantly building outward, and constantly discovering new needs. In that gap, between here and the future, lies uncertainty and opportunity. We depend on legitimate experts to be our guides there – but when the experts say “There’s nothing more we can do,” what do you do?
A lifetime ago, only scientists and academics could extend that frontier, because doing so requires access to knowledge and tools. Today both are available to many, not just the elite, in ways that simply weren’t possible a generation ago. Predictably, when the ability to learn became real, some people who were activated and motivated, and had sickness in the family, picked up their shovels. And some succeeded in adding to what’s known at the frontier. They created new knowledge – extending science – and some have even created new treatments and products.
- Sharon Terry and her husband found the genetic cause of their children’s disease – their “doctors didn’t think two lay people could have anything to do with research other than carry their briefcases”! And this was back in the 1990s. Not only did they find the cause; today she runs the Genetic Alliance. See her TEDMED talk Science didn’t understand my kids’ rare disease until I decided to study it.
- Tal Golesworthy proposed, designed, and helped in the production of a new surgical treatment for his risk of aortic aneurysm. It worked, and has been used on scores of patients. (Coverage: BMJ “When Patients Innovate“; Mosaic science site “The Engineer Who Fixed His Own Heart“)
- Jill Viles, while still in college, divined the cause of her two unusual diseases that combine into her extremely rare muscle-wasting condition – and how it makes her a near-twin to a (paradoxically) muscular Olympic sprinter. Along the way, she may have also saved her father’s life. Pro Publica: “The DIY Scientist, the Olympian, and the Mutated Gene“
- Emily Kramer-Golinkoff, a cystic fibrosis patient with a nonsense mutation … which means she’s in the 10% of CF patients who won’t be helped by all the new drugs coming on the market. She’s bending the history of her disease by creating a powerful non-profit Emily’s Entourage, raising funds and drawing researchers’ attention to the need for discoveries on nonsense mutations.
- Jack Andraka, “at the age of 15, invented a new, potentially lifesaving tool for detecting pancreatic, lung, and ovarian cancers.” Well, that’s what National Geographic says about him.
Who are these people?? How have they done this, and why doesn’t everyone know it’s possible? And these are just a few – there are many more.
They raise exquisite questions:
- How can it be that people without medical (or even scientific) training can extend science beyond what their doctors could offer?? How is this possible??
- What does that say for our assumptions about who can extend science?
- Doesn’t it make sense, then, to give patients unrestricted access to their full medical records and data, if they too want to help? On what grounds could we justify holding their data back?
If this seems extreme, consider: these are not people with a bad cold – they’re dealing with potentially lethal or life-limiting conditions, and science has reached the end of its wits. When that happened to them, these people didn’t give up – they said “Let me see if I can help.” Or demanded to be given a chance – to have their help accepted.
Superpatients is the story of many such people
… what they’ve done, and what they continue to do. I call them superpatients because while the traditional patient goes to the doctor for expertise, the superpatient doesn’t stop there. When science says “We’re out of answers” and the patient’s still sick, superpatients say “Let’s see if I can help.” And sometimes, they can: even if they’re not scientifically trained, superpatients sometimes succeed in their search.
It is the thesis of this book that if medicine is to achieve its potential we must understand this change. How else can we possibly take advantage of today’s new reality? Can any industry succeed today – cars, TVs, food or anything – if it’s stuck in the twentieth century? Or if its authorities have outdated facts? Yet that is what we too often see in medicine: doctors and businesses and policies that discourage patient contribution, particularly by limiting our access to information.
We can help end these practices by understanding the evidence that patients can, do, and will extend that frontier. Once we accept this new reality, it becomes indefensible to hold back the change. There are no guarantees – creating knowledge is hard – but when all other options are gone, you too might want to know of superpatients who’ve tried and achieved something nobody’d ever done before.