Pam Mace has come a long way since her fibromuscular dysplasia (FMD) diagnosis 18 years ago.
So, too, has recognition of this once-little-known disease.
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A vascular disease, FMD causes abnormal cell development in the walls of one or more arteries. This can put individuals at risk for artery blockages, stroke, coronary artery dissection or aneurysm.
Vague symptoms of the disease — high blood pressure, headache and pulsation tinnitus (a swooshing noise in the ears) — make it tough to diagnose. And many patients are asymptomatic, with their condition discovered by accident during a radiology scan for another health issue.
It's why Mace and other committed individuals have worked tirelessly to spread the word about FMD by establishing the Fibromuscular Dysplasia Society of America, an international registry and a medical advisory board charged with disseminating information to emergency departments, specialists and primary care physicians.
The efforts continue to pay off.
"Rarely a day goes by that someone isn't diagnosed with FMD and contacting us," Mace says. "And reports of FMD grow as awareness grows. We're a small organization doing big things."
Finding resources and peer support
Mace was 37 when she was diagnosed with an ischemic stroke and bilateral carotid and left vertebral artery dissections, or tears in the walls of these arteries. Arterial tears can sometimes disrupt blood flow, resulting in clots that may lead to stroke.
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But it would be nine months before doctors could determine the exact cause of her condition.
To complicate matters, says Mace, a former emergency department nurse, no two FMD cases are the same.
"We don't know why FMD behaves the way it does; it's different for all people who have it," she says, noting that it's more commonly seen in women and that the average age of a woman diagnosed with FMD is 50.
At the time of her stroke and carotid artery dissections in 2000, Mace was frustrated to find no physicians specializing in FMD — and scarce patient resources.
The resident of Grosse Ile, Michigan, was left with feelings of isolation and anxiety until four years later, when she came across an online FMD group with 400 members who exchanged information and provided support.
This was followed by her discovery of a newly formed organization that would forever change her life. The Fibromuscular Dysplasia Society of America, founded by Susan and Rich Gould and Marie Yeh, was focused on FMD awareness, education and patient support — exactly what Mace and others with the disease were searching for.
She was quick to volunteer, first becoming a society board member, quickly advancing to become its vice president in 2005 and chairperson in 2006.
Today, she serves as the organization's executive director, working tirelessly to raise funds to support research and promote FMD awareness throughout the world.
Continuing to effect change
In the years since Mace's diagnosis, the society has made an impressive impact, with the American Stroke Association recognizing FMD as a cause of stoke and many doctors now specializing in the disease.
And the organization continues to expand, with thousands of members — many of whom are international, a popular website and the realization of its 11th annual conference on May 19 in Cleveland, Ohio.
"During the conference, attendees create lifelong bonds," Mace says. "The support is so important. Others have no idea of the fear and anxiety that comes with the diagnosis, especially for those who have experienced an event."
Another FMD milestone was the 2009 launch of the United States Registry for FMD at the University of Michigan Clinical Outcomes Research and Reporting Program.
There are 14 registry sites in health systems throughout the U.S. Patients who visit one of the sites to register complete a yearly survey and share information such as date of diagnosis, types of tests conducted, past medical history and family history.
This data provides opportunities to learn more about FMD, including the natural course of the disease and which procedures are most effective to relieve symptoms. Researchers are also studying a genetic component of the disease and exploring potential relationships between FMD and connective tissue disorders.
"We now have more than 2,000 patients from all over the U.S. entered into the data registry," says U-M's Eva Kline-Rogers, NP, a co-director of the reporting program. "This has allowed us to gain a much better understanding of presenting symptoms, treatment patterns and outcomes associated with FMD."