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LAM: A Rare, Fatal Disease

CT Scans Recommended to Catch Rare Women's Lung Disease

Jun 20, 2008

For women suffering with the rare, incurable lung disease Lymphangioleiomyomatosis (LAM), daily life can be challenging.

Researchers across the country are seeking both effective treatment and a cure, but the current situation is bleak for women who are often wrongly diagnosed with asthma for years before their lungs fail. Oxygen and then a lung transplant may be their only hope for additional years of life.

What is LAM?

LAM is a cystic lung disease characterized by progressive loss of lung function due to the invasion of abnormal muscle tissue which obstructs airways. In its early stages LAM is often confused with the lung disease emphysema. People with LAM often need oxygen treatments and lung transplants as the disease continues its course. According to the American Lung Association, as many as 250,000 women in American might have the disease but have not yet been diagnosed.

The cause of LAM is not fully understood, although researchers have identified a genetic mutation that may play a role. Because the disease generally only affects women in their reproductive years, some researchers theorize a link with hormone imbalance.

The LAM Foundation recommends that women who are suffering from chronic respiratory problems that do not respond to emphysema or asthma treatments have a CT scan. Although this test is not commonly ordered for breathing problems, it is the only way to find the trademark “swiss cheese” appearance that LAM gives to lung tissue.

Zaria’s Story

Zaria Benedict, an optimistic Californian in her mid-30s, is a classic story of misdiagnosis. For years doctors attributed her fatigue and breathing problems to excess weight, asthma and allergies. She lost 150 pounds with the help of gastric bypass surgery, exercise and diet . . . but continued to struggle with days when she simply could not get out of bed.

Despite those difficult days, Benedict pursued financial and material success, working 80 hours a week in a brokerage, bringing in new clients and a satisfying salary. But in early 2006 she was still struggling with breathing problems and went to the hospital, coughing up blood. She was released with the suggestion that she had pneumonia.

Within a few weeks, she was at work when her lung collapsed. Believing the problem was an intense asthma attack, she went home to rest.

“I came home and laid down and it felt like someone had poured some cement in my chest,” she recalls. Finally, she drove herself to the ER, where a pulmonologist finally reviewed her first CT scan, performed a week previously. After a lung biopsy, she received her final diagnosis in July 2006: incurable, rare LAM.

According to her doctors, she had two thirds of her lung capacity at that time. In the months since she has suffered three lung collapses. Although she is not on oxygen yet, Benedict knows that may be in her future. Today she prays and stays active with her support group, the LAM Foundation, family and her church, although she can no longer work full-time. Her full-time job is taking care of herself, her dog and her medical concerns.

“I’m actually considered indigent. I have to fight for everything - to get prescriptions filled, to get a doctor to look at me, to get any assistance. Doctors say it’s obvious you need to be on disability, I can’t go to work, shouldn’t work from home,” says Benedict, who is single and often has to ask for help with the basics of daily living. “Where it might take you ten minutes to vacuum living room, it takes me an hour. Those are the kinds of difficulties that people don’t understand.”

Still, she has faith that she will be cured one day.

Rapamune May Help Slow LAM

Research is ongoing. For example, the results of a study released in the January 10 2008 edition of the New England Journal of Medicine suggest a combination treatment that could shrink tumors in their lungs by 50 percent with the help of the transplant drug sirolimus (Rapamune). Cincinnati researchers demonstrated that a year’s course of the drug also might improve lung function in some patients.

The research team treated 20 patients who had angiomyolipomata tumors, common among LAM patients, with sirolimus for 12 months. They reported that at the end of the year, the tumors shrank by about half. Eleven of the patients who had LAM and took sirolimus for the year showed a 10 to 15 percent improvement in expiratory air flow, a standard measure of lung function.

The copyright of the article LAM: A Rare, Fatal Disease in Women’s Health is owned by Madeline Vann. Permission to republish LAM: A Rare, Fatal Disease in print or online must be granted by the author in writing.