New awareness day recognizes rare disease

By Amabel Karoub, Daily Staff Reporter
Published March 10, 2014

Thirteen years ago, Pam Mace was diagnosed with fibromuscular dysplasia, a rarely diagnosed disease. Today, the disease is being recognized in a statewide awareness day.

After a year-long effort by Mace to garner more public awareness of the disease, the Michigan state Legislature has declared March 11 as Fibromuscular Dysplasia Awareness Day. Experts said awareness is crucial for the treatment of the disease, which is commonly misdiagnosed due to lack of understanding by medical personnel.

FMD causes abnormal growth in the medium-sized arteries in the body, potentially causing hypertension, strokes and aneurysms. It mostly affects women in their 30s and 40s. When Mace first had a small stroke, she was repeatedly diagnosed with hypertension, or high blood pressure.

“I just kept getting told that my blood pressure was high because of my history with high blood pressure with both of my parents,” Mace said. “I kept getting told to get on with my life. No one could tell me what caused it.”

Unsatisfied with this answer, Mace kept searching for a cause. When she was finally diagnosed with FMD a full year after her stroke, she said she felt very alone.

“You’re told you have a rare disease, you go to the doctor, he says, ‘I’ve never seen a case before,’” Mace said. “There was very little literature on the disease back then.”

Faced with the daunting diagnosis, Mace began a campaign to raise awareness. She joined the Fibromuscular Dysplasia Society of America in 2004, and she said she has had many opportunities to raise awareness since.

“We got the National Stroke Association to list it, then the American Stroke Association listed it,” Mace said. “More doctors started diagnosing the disease, and different opportunities kept presenting themselves.”

In 2009, Mace came to the Michigan Cardiovascular Outcomes Research and Reporting Program and asked them to create a national clinical registry of patients with FMD. The registry now has 14 participating sites nationally, and tracks nearly 900 patients. MCORRP Manager Eva Kline-Rogers said the information gained from patients has allowed for some crucial findings.

“What we found in the registry is that 90 percent of patients of FMD are female and that usually it takes five years to diagnose it because the symptoms are vague and often overlap with other symptoms,” Kline-Rogers said. “That’s where the registry is making a lot of significant contributions, in helping to elucidate some of these symptoms.”

Dr. Santhi Ganesh, assistant professor of human genetics and internal medicine, has worked to study the genetics of FMD.

“The cause of FMD is not well understood, but there appears to be a familial genetic component,” Ganesh wrote in an e-mail. “We hope the genetic study will provide insight into why arteries undergo abnormal remodeling in FMD patients, on a molecular and cellular level. This knowledge may be used to develop targeted therapies for FMD. Genetic markers we identify and confirm as clinically useful could also help us identify FMD earlier.”

Shannon Fry, who has also been diagnosed with FMD, is listed in the clinical registry and is a patient of Dr. Ganesh. Like Mace, she was misdiagnosed with hypertension before being diagnosed with FMD. She said she has been profoundly affected by Mace’s work, and has been working to raise awareness about the disease as well.

“I started visiting the FMDSA website and started learning as much as I could through them,” Fry said. “I became a part of Dr. Santhi Ganesh’s study … I think the awareness is very important.”

Although more and more patients are being diagnosed, Mace said the disease is still considered rare. In her latest effort to raise awareness, she has petitioned successfully, with the help of state Rep. Patrick Somerville (D–District 23), for March 11 to be FMD Awareness Day in Michigan.

“It started well over a year ago,” Mace said. “I’d actually e-mailed Congress, from Congress I was told to contact my state representatives. I talked with different states … Pat Somerville took the time to actually initiate it for me.”

The Michigan Legislature approved the awareness day on Thursday. Kline-Rogers said she hopes the day will help to reduce the misdiagnoses.

“We want providers to be more aware that this is a disease that’s out there, and it’s very often misdiagnosed and unrecognized,” Kline-Rogers said. “We want it to be something that people think about … we want that provider to say ‘oh, I wonder if this is FMD.’ ”

Mace said for FMD Awareness Day 2015, she hopes to go even bigger.

“Next year we’d like to take it national,” Mace said. “We’d like to get every state involved now that we know how the process works.”

Correction appended: A previous version of this article incorrectly suggested that Dr. Ganesh was conducting her research in conjunction with the clinical registry. Dr. Ganesh is conducting her research independently.