DAVID GREENE, HOST:
People with extremely rare diseases are often scattered across the world, making it hard for any one institution to locate enough individuals to conduct meaningful research. But one woman with an extremely rare heart condition managed to connect with enough people on the Internet to interest the Mayo Clinic in a research trial. Reporter Gretchen Cuda-Kroen has her story.
GRETCHEN CUDA-KROEN, BYLINE: Katherine Leon was 38, in great health, and had just given birth to a brand new baby boy. And then the unexpected happened: she had a heart attack.
KATHERINE LEON: I had been in great health beforehand, or so I thought, and it was just a complete surprise. So to go from a mom of two to being a patient was really a big shock.
CUDA-KROEN: The diagnosis was something called Spontaneous Coronary Artery Dissection, or SCAD. Leon didn't have high cholesterol and her arteries weren't blocked by the typical atherosclerotic plaques that one finds in most patients with heart disease. Instead, the walls of her arteries had torn and tiny fragments of tissue had blocked the flow of blood to her heart. It's a condition that primarily affects women, and it's also very rare - so rare her doctors told her that there were hardly enough people to study it.
LEON: In this day in age, to have a type of heart attack that had not been researched just seemed ridiculous.
CUDA-KROEN: So ridiculous that Leon says once she recovered from double bypass surgery she decided to do something about it. She started looking for other SCAD patients on the Internet. It took her a year to find her first patient. And another year or longer to find three more. And then, in 2007, womenheart.org - the online community Leon had joined to look for other SCAD patients, upgraded to a more search-friendly format, and suddenly Leon's group took off.
LEON: If they Googled SCAD - boom - up would pop our conversation and they could join right in. So that's when the numbers really exploded. And you know, every week we were getting a few more and a few more and it was really exciting.
CUDA-KROEN: As the numbers of SCAD patients grew, Leon kept track of them, taking notes on their age and medical information.
LEON: I just kind of kept a running document on the computer. And as it grew, that's when I thought, OK, research would be viable. I mean this would definitely be something that I could compile and take to a doctor someday and try to convince them to research it.
CUDA-KROEN: Eventually, Leon found the opportunity she needed. She was invited to a symposium run by womenheart.com at the Mayo Clinic, where she spotted cardiologist Sharonne Hayes.
SHARONNE HAYES: She came up to me during one of the breaks at the meeting, and she said, oh, Dr. Hayes, what's Mayo doing for research on SCAD?
LEON: Then that's when she said well, we aren't doing anything, and I said that I knew over 70 women through an online community who had it all over the world, that we were in contact.
She said, well, we want somebody to research it, would you do that?
CUDA-KROEN: And she did. She set up a virtual patient registry, and allowed patients from all over the world to submit their medical records and scans online. In their first trial they enrolled 12 patients - and had to turn people away.
Hayes is now working on a second trial where she hopes to enroll as many as 200 patients. Hayes says traditionally, one of the biggest barriers to studying rare diseases are the privacy laws that make it difficult to access hard-to-find patients.
HAYES: I could not legally, ethically send out an email to, you know, all Mayo patients for instance, and say oh, you know, anybody got SCAD, you want to sign up for my study?
CUDA-KROEN: But the rise of social media has allowed patients to do for themselves what researchers like Hayes can't: spread information about research. Through their personal Facebook pages, chat rooms and message boards, patients are recruiting each other in a kind of virtual word-of-mouth - and it works.
HAYES: This is not investigator initiated research, this is patient initiated research - and to a certain extent, it has been patient sustained research in the case of our study.
CUDA-KROEN: Katherine Leon sees herself, and other patients like her, as needles in a giant haystack, and the Internet was simply the best way to sort themselves out. If more people could do that, she says, there'd be huge progress.
For NPR News, I'm Gretchen Cuda-Kroen.
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