Editorial in New England Journal of Medicine:

Patient Groups Have Power to Drive High Caliber Basic Research to Advance Insight, Tests, Trials in Less-Known Diseases

“We’ve been pursuing a model like this for lupus discovery for over a decade—and with such powerful results.” - LRI President Margaret Dowd

From the New England Journal of Medicine:

There are an estimated five women per million in the United States who suffer from lymphangioleiomyomatosis (LAM), a rare and devastating disease that almost exclusively strikes young women.1-3 These patients have progressive loss of lung function, and many die from respiratory failure. Until recently, a diagnosis of LAM was a medical anomaly, and a woman who received this diagnosis had little cause for hope. The disease was likely to be managed symptomatically by physicians unfamiliar with the disease.

That all changed about 15 years ago, when LAM was diagnosed in a 22-year-old woman who had a bleak picture painted of her future. Her mother, who was not a medical professional, realized that very little was known about LAM, and that without an understanding of the pathobiology of the disease, effective treatments, or even cures, would never be forthcoming. With her tremendous drive and the networking power of the fledgling Internet, the LAM Foundation was born. The LAM Foundation succeeded in raising money and obtaining third-party funding for research into the biology of LAM.4,5 As a result of the work funded by the foundation, we now know that LAM is characterized by the presence in the circulation of so-called LAM cells. These are specialized cells, with certain characteristics of smooth-muscle cells, that infiltrate organs, especially the lungs and to some extent the kidneys and other organs, via the lymphatics. The spread of these unusual cells leads some to categorize LAM as a low-grade neoplasm.