May-June 2013 | Features in Bethesda Health

Breath of Hope

What happens when a woman is diagnosed with a rare lung disease and given a short time to live? Sometimes, life happens

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The clues probably spanned a couple of decades, though neither Mary Stojic nor her doctors were able to read them at the time.

As a teenager in Easton, Pa., for instance, she swam “all the time”—but could never quite breathe the way her instructor wanted. 

As a junior at American University, Stojic suffered a collapsed lung—unusual in a nonsmoker with no known underlying respiratory ailment. She required surgery to repair the lung and spent that Christmas and New Year’s Day in the hospital.

More than 12 years later, she suffered a second collapsed lung. By then she was a 34-year-old mother, with three daughters in kindergarten to fourth grade. Stojic developed bronchitis after surgery and again three months later. That’s when her doctor came up with the diagnosis that explained her history of lung problems: lymphangioleiomyomatosis, LAM for short.

Stojic went to the Bethesda Library near her home to research the disease (the Internet wasn’t in wide use yet). She found one page in a book about rare disorders. It described LAM as a progressive lung disease that almost exclusively affected women around her age. Fatigue, shortness of breath and collapsed lungs were common. And the disease, it said, was fatal, killing patients within 10 years of diagnosis.

“When I read the description, I knew…,” Stojic recalls. “That was my life.”

First described in the 1930s, LAM occurs when abnormal, smooth, muscle-like cells grow out of control in the lungs, kidneys and lymphatic system. This leads to the formation of cysts in the lung and destruction of healthy tissue, causing breathing problems. LAM cells also can cause benign tumors in the abdomen and pelvis.

In a paper published last November, Dr. Elizabeth Henske of Harvard Medical School and Dr. Francis McCormack of the University of Cincinnati described the course of the disease this way: Lung function typically declines 3 percent to 15 percent a year in patients with LAM. Ten years after diagnosis, about 55 percent experience shortness of breath with daily activities, 20 percent require supplemental oxygen, and 10 percent have died. A lung transplant is the treatment of last resort.

According to The LAM Foundation, an advocacy and research organization based in Cincinnati, about 3,000 women worldwide are living with a LAM diagnosis, including 1,200 in the United States. But it’s estimated that up to nearly 300,000 people worldwide have the disease and don’t know it. Of those, 30,000 to 50,000 are believed to have a “sporadic” form of the disease, which means it isn’t inherited and isn’t related to any other condition. In the others, LAM is associated with an inherited disorder called tuberous sclerosis complex (TSC), which is caused by a defect in one of two genes. 

In Stojic’s case, the disease is sporadic. Research suggests that most women with sporadic LAM have one of the genetic defects that cause TSC in their kidney tumors and in the LAM cells that invade their lungs, but not in normal kidney or lung tissue. TSC patients, on the other hand, have one of the genetic defects that cause TSC in every cell of their bodies.

That Stojic wasn’t diagnosed for years after her first collapsed lung isn’t unusual. LAM symptoms resemble other lung diseases, such as bronchitis or asthma, so doctors often treat patients for those ailments, says Dr. Joel Moss, a leading LAM expert and lung specialist at the National Heart, Lung, and Blood Institute (NHLBI), which is part of the National Institutes of Health in Bethesda. But as the disease progresses and the patient fails to respond as expected to medication, doctors might order a CT scan, Moss says. That will reveal LAM’s telltale lung cysts, which go unseen on standard X-rays.

After a CT scan confirmed her diagnosis, Stojic—a stay-at-home mother and active volunteer in her daughters’ schools and clubs—went into “hyper-mom mode.”

“I felt I was living on borrowed time,” she says. “I wanted my girls to know me and be clear about who I am spiritually, politically and what I value. I felt it was necessary to spend time with them to create a clear picture of me and to guide my daughters…through childhood and young adulthood. My prayer was that I would see everybody off to college.”

More than 14 years after her diagnosis, Stojic is still very much alive. Not only did she get to see all three daughters off to college, she has seen two of them graduate. If you didn’t know better, you’d assume on first meeting the vivacious Stojic that she was a perfectly healthy 48-year-old. She doesn’t even seem to be short of breath.

“That’s because I’m sitting,” Stojic explains from the living room couch at her Bethesda home, her silver hair in a ponytail. “If I’m chatting, I have to sit.”

LAM “hasn’t stopped me,” she says, “but I certainly walk slower than I used to. I’m certainly out of breath faster than I used to [be]. I have to use bronchodilators [drugs to open the airways] more than I ever had before.” Hot, humid days are the worst. “Code orange days, code red,” she says, “I look like a fish that fell out of the goldfish bowl.”

Yet she still rides horses most weekends on her family’s farm near Gettysburg, Pa. And in January she started her first full-time job in 22 years, shepherding students around Washington, D.C., on trips organized by the nonprofit and nonpartisan Close Up Foundation. “It’s physically challenging,” Stojic acknowledges. “Some of the days are extremely long.”

In 2010 and 2011, Stojic underwent her third and fourth operations to shore up a collapsed lung, and she has suffered five or six smaller collapses that healed on their own. By now, she can diagnose them before they can be seen on X-ray.

“It’s like a balloon pops,” Stojic says. She becomes short of breath, as though an elephant is sitting on her chest, an image she borrows from a recent commercial for a drug to treat chronic obstructive pulmonary disease (COPD).  

“I can tell the severity of the collapse by the weight of that elephant when I lie down,” Stojic says.

To recover from a lung collapse, she must put her life on hold, not easy for an active wife and mother. “When you have [a collapsed lung], you have to drop your physical exertion to zero,” she says. “You have to become very, very quiet physically to allow your body to heal,” a process that takes about six weeks.

Whenever she has needed to recuperate from a collapsed lung, “a lot of the heavy lifting” has fallen on her husband, Washington attorney Steve Stojic, “whether it was the horses, the housework.” And when her daughters were old enough, they helped, too.

Perhaps the most difficult period, though, was the year she took high doses of progesterone. Because LAM is diagnosed almost exclusively in premenopausal women, scientists speculate that estrogen plays a role. Doctors used to prescribe progesterone to block estrogen’s effects, and some women even had their ovaries removed to stop estrogen production, although both approaches have fallen out of favor since research failed to support them.