To know that your life is going to be cut short prematurely is a particularly brutal life lesson. Some people with a few years or even months to live let go of the inessential and live fully, some retreat inward and others, like Amy Farber, are inspired towards altruism. Farber, 35, learned last spring that her vague feelings of abdominal discomfort were a symptom of lymphangioleimyomatosis, LAM, a very rare, progressive fatal lung disease. A low blow for its victims, LAM evades immediate diagnosis and, because it affects mostly young women, it cuts short a vibrant life and often young motherhood. Raised and educated in the Palisades, Farber has a Ph.D. in cultural anthropology from Harvard and was well on her way to a law degree. Married last year, she and her husband Michael Nurok, a fellow in cardiothoracic anesthesia in Boston, were planning to start a family when Amy’s life spun into a vortex. It started with fatigue and slight discomfort in her back, which initial routine tests could not explain. ‘I was convinced it was stress; stress always is a plausible explanation,’ Amy said while home recently for a visit. ‘But I knew something wasn’t right so I pressed for a CT test, which revealed a small mass near the kidneys and at the base of the lungs.’ She was referred to a pulmonologist, who told her the findings were ‘suggestive of something I couldn’t pronounce. I lost my ability to speak and my ability to hear because I couldn’t process as fast as bad news was coming.’ What is LAM? Lymph refers to the lymphatic system, angio to blood, lie to fat or benign tumors, myo to smooth muscle tissue and matosis to the proliferating process. ‘An ugly name for an ugly disease,’ Farber confirmed. ‘LAM [lamb] doesn’t really cut it; LAM kills women by suffocating them to death. It gets your entire lungs.’ Farber, who has become an ambassador for generating interest and research dollars for LAM, says that it’s not hereditary, but rather, a sporadic, somatic mutation that only strikes women, particularly white middle class women. It took four months for Farber to be diagnosed with LAM, a relatively short time, she said of a disease that is often misdiagnosed. She attributes the accurate diagnosis to the fact that she lives in a medical mecca, where cutting-edge research and medical facilities abound. ‘I went to the NIH in Bethesda Maryland for further testing and after four or five days, I received my LAM diagnosis. I felt invisible, frightened, and cut off. I left with three months of vitamins and was told to avoid getting pregnant. ‘My family and I were so close, almost a single organism. When I hurt, they hurt. My husband was a pillar of strength and faith. ‘Anything can happen to anyone, any day, Michael said.” Farber said that the abrupt short circuit to her life threw her into confusion; she was at a crossroads. ‘I could change my life or I could return to the Amy people wanted me to be. I wanted to live, and it was clear to me that there was more I could do.’ She got in touch with Sen. Barbara Boxer to appeal to the Senate to continue with the protocols to study the disease. She also organized doctors, specialists and researchers to pool their knowledge and brainstorm potential therapies. By October, 2005, 30 to 40 laboratory heads were attending monthly seminars. Ten research projects structured to lead to a treatment for LAM have been planned, each estimated to cost $150,000. There has been some progress. The LAM Research Fast Track Fund at the Boston Foundation was established to accelerate the pace of promising LAM research. ‘We are in the process of creating our own foundation which will carry on the research,’ said Farber, who is also talking about strategic partnerships between drug companies’ research arms and academia, and welcomes entrepreneurial thinking. ‘LAM is remarkable,’ Farber said. ‘It is understood to be the result of a gene defect that lies on the pathway to many cancers. LAM is a dumb cancer. A hormonal link is understood. But how much is estrogen driven?’ It is 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. Eventually, as lung tissues become more abnormal, supplemental oxygen no longer works and patients suffocate. Because there are so few who have been diagnosed (worldwide, there are more than 250,000 women who are thought to have LAM), funding research is scarce. Instead, educating the public, building interest and raising money falls to those who have LAM, and their families and friends. ‘I give myself four years before my disease progresses to be irreversible,’ Farber said. ‘This is about awareness, women and cancer, larger things, especially for women. I am asking for your help. I’ll work harder and I’ll do whatever it takes.’ To donate to the LAM Research Fast Track Fund, you can send a check payable to the Boston Foundation/LAM Research Fast Track Fund c/o Boston Foundation, 75 Arlington St. Boston, MA 02116. Amy Farber can be reached at afarber@post.harvard.edu.
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