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Deadly lung disease too rare for spotlight

Published December 6, 2005 at midnight

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In the "life is not fair" department, Amy Farber and several hundred other women like her have been dealt a particularly nasty blow. They have a disease that few people, including doctors, have ever heard of - a very rare, progressive and ultimately fatal lung disease that primarily affects young women. Its cause is unknown, and there is no effective treatment.

Further, the name of the disease is hardly memorable: lymphangioleiomyomatosis, (pronounced lim- FAN-zhee-oh-LYE-oh-MY-oh-muh-TOE-sis), or LAM for short.

It's among the rarest in the catalog of rare diseases - health problems that receive little research attention because it's hard for public and private institutions to justify spending time and money searching for cures. Meanwhile, their victims are doomed to suffer and, in the case of LAM, die within a decade or two.

Unless there's a drastic change in the way research is organized, the only hope for people like Farber is that one of the few researchers exploring her disease will stumble on a way to arrest or even cure it before it destroys her lungs.

As Farber pointed out in a letter to a friend, rare diseases "can teach us about more common serious diseases."

"Although LAM is not a cancer," she continued, "LAM research has the potential to shed significant light on cancer, heart disease, diabetes and obesity."

Farber is 35 and lives in Boston with her husband, Michael, whom she married a year ago. He's completing a medical residency, and Farber, who has a Ph.D. in cultural anthropology from Harvard, has finished two years of law school. Her plan was to devote herself to community service and social justice.

She expected, she said, "to use the law as an advocacy tool to support access to health care for those most socially and economically marginalized."

Sudden onset

Farber had been a healthy and physically active woman when, last December, she became fatigued and had significant discomfort in her back. Hoping to become pregnant, she decided to be checked out to ensure she was healthy.

The first round of routine tests (blood work, chest X-ray) came back normal. But when she pressed her doctor for a further work-up, a CT scan of her upper abdomen revealed a small mass on one kidney and scattered cysts throughout her lungs. She was referred to a pulmonologist, who told her the findings were suggestive of LAM, a diagnosis confirmed in April at the Clinical Center of the National Institutes of Health.

LAM was first described in the medical literature in 1937 as a disease in which an unusual type of muscle cell invades the tissues of the lungs. As the disease progresses, these cells form bundles that grow into the walls of the airways and the vessels that carry blood and lymph, obstructing them. The lungs become a mass of cysts that supplant normal lung tissue.

In about half the cases, patients develop a benign kidney tumor.

The disease most often occurs in women of childbearing age and is exacerbated by estrogen. Pregnancy makes it worse, and most postmenopausal women who get it are taking supplemental hormones.

After a diagnosis, women are advised to avoid pregnancy and, in some cases, to have their ovaries removed.

Lung transplant the only cure

People with LAM develop progressively worsening shortness of breath that initially can be relieved by an oxygen tank.

Eventually, as lung tissues become more abnormal, supplemental oxygen no longer works and patients suffocate.

Now, the only way to save those with advanced disease is a lung transplant. But even with a transplant, half the patients die within three years; others die waiting for donor organs.

Depending on how early in the course of the disease it's diagnosed, life expectancy typically ranges up to about 20 years.

In years past, almost all patients with LAM died within five or 10 years of diagnosis, mainly because it took so long to determine what they had (asthma, emphysema and bronchitis were the common initial diagnoses).

Modern scanning equipment and biopsy techniques have made it easier to diagnose earlier, hence the longer life expectancy, at least for women in this country.

Worldwide, more than 350,000 women are thought to have LAM. On average, Farber said, "LAM patients endure four years without a proper diagnosis, primarily because few doctors are familiar with the disease." Farber admits to being very frightened by the "lack of medical understanding of LAM."

"It keeps me up most nights," she said. "I feel like a time bomb - as if I have been pushed out to sea on my own punctured life raft."

Lack of support for those with rare diseases

She described a circumstance common to nearly all those facing a rare disease: "Because the number of women diagnosed with LAM is so low, it is difficult to find corporations and drug companies interested in financially supporting research to find a treatment and cure.

"Instead, the funding for LAM research and the responsibility of generating greater public awareness of the disease fall upon those diagnosed with LAM, their families, friends and acquaintances. It is a tremendous challenge for us as we try to hold ourselves together, to create hope where there is little, and to keep our work and family lives intact.

"No one knows the pace at which my disease will progress. (But) what is certain is that I no longer have years ahead to apply my academic and professional training to alleviate the suffering of others. I can no longer count on being able to contribute to my family or my country before joining the majority of women with LAM who are on disability, unable to work, dependent on the state for their costly medical care and basic income."

Still, Farber has found something to be grateful for: "I am lucky to be living in one of the world's most advanced academic medical centers. I am lucky to have health insurance. Also, I am lucky to be married to a loving, dedicated and well-educated husband able to gracefully and effectively navigate the medical system.

"Few people with rare diseases have the resources that I do. So now, while I am still physically able, I commit myself to addressing barriers to finding treatments for those diagnosed with rare diseases like LAM."It's a fight she can't walk away from.