In May, Glamour magazine profiled Farber as its "Hero of the Month."

Summer 2007 | Special Profile

True Grit

By Michelle Bates Deakin     |     Photo by Kathleen Dooher

MY FARBER’S life changed forever in the computer lab at the law school. It was January 2005, and Farber had just finished a presentation to her bioethics class. She decided to stop by the library to check her e-mail. A message was waiting from her doctor regarding findings from a recent CT scan. “Call me,” the message ended.

Farber had always been healthy but began feeling discomfort in her back and abdomen, and had undergone a series of medical tests to ensure she was fine before starting a family. She was a newlywed, having married her husband, Michael Nurok, the previous August. In the computer lab, she couldn’t grasp the full meaning of her doctor’s e-mail, but she could sense its urgency. “It was a drop-everything moment,” says Farber. “It was the last moment of my life as usual.”

Based on the CT scan showing a small lesion next to Farber’s left kidney and some scattered cysts throughout her lungs, Farber’s doctor suspected she had a rare condition known as LAM (lymphangioleiomyomatosis). Further testing at the National Institutes of Health that spring confirmed the unusual diagnosis. LAM is a rare and fatal disease, with no known treatment. It affects women of childbearing age, simultaneously attacking several body systems, especially the lungs.

Farber is at once soft-spoken and articulate. She chooses her words carefully, and speaks with precision and force. While working as an anthropologist prior to law school, she became fluent in Spanish and Indonesian, and conversant in the African language of Xhosa. She is now becoming fluent in the medical terminology of her disease. A petite, trim woman of 37, she wears her thick brown hair in a loose ponytail. When she peers into the oversize laptop on her large wooden desk, which she does frequently, she practically disappears behind it.

Racing to find a cure for LAM, Farber has advanced what is arguably a new model for research into rare diseases. Drawing on her interest in bioethics and her background in anthropology, Farber is prodding medical researchers around the world to study LAM and to change the approach to investigating rare diseases.

In the two years since she was diagnosed with LAM, Farber has raised more than $1 million for the LAM Treatment Alliance, which she founded. And she has convinced some of the best and the brightest medical researchers in the fields that overlap with her disease to turn their attention to it.

For Farber, focusing on a rare disease — even one she has herself — required a seismic shift in her thinking about the delivery of medical resources. Her work for her anthropology PhD, which she received from Harvard in 2003, partly focused on implementation of the UN Convention on the Rights of the Child in South Africa. Her doctoral work led her to study issues of distributive justice — delivering basic health, education and welfare to the most people possible. Against this backdrop, Farber was challenged to rationalize asking highly trained scientists to devote themselves to the study of her rare disease. “I asked myself, ‘How can I justify turning all these resources toward a boutique disease?’” Farber recalls. “I wanted to live, but I didn’t know how to get my advocacy self on board.”

As Farber looked into the science of rare diseases, she discovered that there are more than 25 million Americans with one of 6,000 so-called orphan diseases — those afflicting fewer than 200,000 people. “They’re divided up into little communities around diseases with names you can’t easily pronounce,” Farber explains. She realized that when these boutique diseases were grouped together, they were part of a much larger phenomenon. That was when Farber grew to see the big picture.

FARBER REALIZED that the study of LAM could advance treatment of diseases with molecular similarities, including types of breast, lung, prostate and colon cancer as well as melanoma and diabetes. “At the molecular level, diseases that look distinct on the surface have overlapping pathways,” she notes. For example, “LAM and estrogen-positive breast cancer may have more in common than estrogen positive-breast cancer and other cancers.”

This new mindset, which freed Farber to devote herself to persuading scientists to find a cure for LAM, also took her in unanticipated directions. She and her husband, a thoracic anesthesiologist, had been hoping to start a family; now, however, doctors cautioned against getting pregnant, warning that the surge in estrogen levels during pregnancy could accelerate her disease. She had enrolled in Northeastern with a passion to work at the intersection of law and health care in advancing health care policy, but found herself using her legal training to create a foundation to fast-track research.

Farber took a leave from her law courses and did back-to-back internships to launch the nonprofit LAM Treatment Alliance, creating a 501(c)3 with help from faculty advisors Wendy Parmet and Libby Adler.

“Advancing the cause of good research into this disease was a life-or-death project,” says Adler. “Amy might have moved mountains in any event, but a death sentence made that a certainty.”

The LAM Treatment Alliance, with an office near Farber’s Cambridge home, focuses on breaking through barriers that typically separate medical researchers and bringing them together to collaborate on a cure for LAM. Farber and others on the Harvard Medical School faculty coor-dinate monthly meetings so researchers can set goals and solve problems. “We do a type of social engineering as we support scientists,” Farber said. “The scientists generate ideas, and we support their collaborative impulses that enhance their ability to learn from each other.”

IN FEBRUARY, the Karolinska Institute hosted the LAM Treatment Alliance’s first global LAM summit abroad, held in Stockholm. Fifty-five scientists representing every continent and patients from seven countries gathered. The foundation helps scientists identify research and treatment priorities, and then funds their studies. “Researchers think this disease is crackable,” says Farber, hopefully. “Money is vital, but it’s not enough. It has to be targeted, shepherded and new developments responded to quickly.”

It’s impossible to tell by looking at Farber that she has a fatal disease, especially as she expounds on research with her characteristic passion and gentle vigor. Yet, cysts continue to grow inside her lungs. There are no drugs Farber can take to stave off LAM’s progression. For all her study of medical anthropology, research and bioethics before she was sick, Farber says she never thought about diseases that were fatal but not treatable. “I was naive,” she says. Through illness, her eyes and her senses have been opened to a deeper layer of understanding — an understanding that’s a constant spur to act.

“The death thing right now …,” says Farber, her voice beginning to trail. “It just doesn’t feel right.” She collects herself immediately, her voice strong again. “I am coping through action. It is the only thing I know.”

Michelle Bates Deakin, a freelance writer, is author of Gay Marriage, Real Life: 10 Stories of Love and Family (Skinner House Books, 2006).