At 38 years old and in generally good health, Katherine Leon was an unlikely candidate for a heart attack.
Yet, on April 30, 2003, just six weeks after giving birth to her second child, she experienced classic heart attack symptoms and was rushed to the hospital by ambulance. After a number of tests, doctors told her there was nothing wrong with her and sent her home.
"I cried to my husband when leaving the [emergency department]. I knew it was my heart. You just know when it's not right," Leon said.
Experiencing similar physical symptoms, Leon returned to the hospital just three days later. But this time, doctors conducted an angiogram that revealed a serious block that required immediate double bypass surgery.
What Leon had was a rare condition called spontaneous coronary artery dissection, or SCAD. Potentially fatal, SCAD involves a suddenly developed split or separation between the layers of the wall of an artery that provides blood flow to the heart. The condition seems to predominantly affect young women, with about one-third experiencing their first episode either during or soon following pregnancy. According to the literature, SCAD could account for one out of 10 episodes of acute coronary syndrome in women younger than 50.
Yet, the condition is poorly understood; the exact number of those who suffer from SCAD is also unknown, though researchers now believe -- thanks in large part to Leon's efforts -- it affects many more than previously thought.
At the time of her diagnosis, Leon was told that getting SCAD was a "fluke." Still, she had expected to receive information about her condition and how to prevent another event. Her doctor told her that there is no research and offered very little in the way of advice.
"It really set me off," she said. Despite her doctor's insistence that she'd never again meet another person with SCAD because it was so rare, she believed otherwise. "All I could think about is I wasn't the only person in the world with this," she said.
Leon took to the Internet to find others with the condition. It took her until 2007 to find another SCAD patient, which she did by joining an online community for women with heart disease through the National Coalition of Heart Disease's WomenHeart.org website. Today, the community is the Inspire WomenHeart Support Community.
Determined to push for research on SCAD, Leon began collecting clinical details shared online by participants on the message board and logging them in a Word file that included the age, general health history, artery affected, treatment, locale and concerns of each participant.
The board became more focused and active in 2009 after a fellow SCAD patient, Laura Haywood-Cory, encouraged a SCAD-specific message board separate from that of general heart disease with a post requesting: "All the SCAD Ladies Put Your Hands Up", a play on Beyonce's "All the Single Ladies." The women in the group began calling themselves the "SCAD Ladies."
Soon after, Leon and Haywood-Cory met in person at the Women-Heart Science and Leadership Symposium at the Mayo Clinic, a workshop on women and heart disease led by Mayo Clinic cardiologist Sharonne Hayes. Leon attended the symposium with the goal of persuading Hayes to investigate SCAD. Her efforts paid off; Hayes agreed to take on the research, impressed by the information Leon had collected on 70 SCAD patients -- more than most experts, including Hayes, knew existed -- and a well thought-out research agenda. The end result was a pilot study published in the September 2011 issue of Mayo Clinic Proceedings. The study, which had room for 12 patients, had 18 volunteers within a week of approval.
"This is truly patient-initiated research. It's not what I [as a researcher] want to study but what patients want to know about. Perhaps because I've spent the past 20 years doing patient advocacy work and active clinical practice, this resonated with me," Hayes said.
This pilot study has led to other SCAD-related research. "Once we finished [the pilot] but before it was published, we tried to scale up and get an IRB (Institutional Review Board) approval for a study with 200 patients," Hayes said.
In addition, the Mayo Clinic has created a database of SCAD patients aimed at identifying patterns that could guide future research. According to Hayes, she and her colleagues have been contacted by more than 300 individuals and have confirmed nearly 100 SCAD cases. They've also created a bio bank of DNA samples from people with SCAD and their families in an effort to uncover genetic factors contributing to the condition.
"We've had an amazing response. I no longer use the term rare, I use uncommon and under-diagnosed," Hayes said referring to SCAD.
Changing Clinical Research: Good and Bad
Health-related social media sites like Inspire, PatientsLikeMe.com and Curetogether.com have become trusted spaces where patients connect with, support and learn from one another about treatments and managing illness. And, increasingly, researchers have flocked to these and other social media sites as a way of expediting recruitment efforts for their research trials, in some cases with great success.
"If you look at the statistics, research in rare disease is so slowed and delayed by recruitment. How do you find people with rare diseases? It turns out that online communities are really good for that because geography disappears and people want to connect with each other," Inspire CEO Brian Loew said.
While eliminating geographical barriers is helping to create connections that prior to the advent of online social networks would have been impossible, it's also shed light on potential challenges that the research community must address going forward, particularly as it relates to blinded and randomized scientific studies, the industry gold-standard.
"We get excited when patients are engaged but when they are chatting online about the study, the research community needs to understand and adapt for that. It's a new space," Craig Lipset -- head of clinical innovation and worldwide research and development at Pfizer -- said.
According to Lipset, patients may coach each other online about eligibility for a study and how to qualify. In some cases, patients share information that exposes one treatment group or another, such as a rash that could suggest they're all in the same treatment arm.
These dynamics are not yet disruptive to studies today, Lipset said. But their effect likely will grow in significance. "Now is the time to understand it before it becomes a big issue," he said.
And when it comes to patients initiating research as in the case of the SCAD studies, Hayes suggests caution before rushing in.
"I think it's one thing for [patients] to approach the Mayo Clinic or [the University of California-Los Angeles] or Johns Hopkins -- institutions that will hopefully protect them. But some people with rare conditions are desperate. Desperate individuals could be exploited in a way that wouldn't be helpful to them or the disease," she said.
Still, there's no denying that Leon has managed to put a life-threatening condition that no one was paying attention to on the map. And her ability to persuade a leading research institution to study SCAD will likely be the difference between life and death for someone in the future.
"Our early findings already have generated new hypotheses that will be the source of future scientific inquiry for this condition," Hayes said.
The success of the SCAD Ladies points to real opportunity going forward, Loew said.
Hayes agrees. "It is evident that social networking tools can catalyze community action and that the energy and commitment of affected patients can overcome inertia and ignite excitement and commitment to new research."