Advances may curb fatal lung disease
Karen Swenson's lungs have collapsed seven times.
The 52-year-old nonsmoking real estate agent from Millis occasionally needs an oxygen tank to get through the day.
When she was diagnosed with a rare lung disease known as LAM (lymphangioleiomyomatosis) , there was no treatment or cure. She was told she had 10 years to live.
But she's beaten the odds.
"I've had this for 22 years, and it's only gotten bad the past five," she said.
If she can hold on a few more years, she might even see a cure. Three discoveries over the last decade have led to the first treatment trial for LAM, which is just getting underway.
LAM, which affects women during childbearing years, is characterized by an unusual type of smooth muscle cell that invades the tissues of the lungs. These LAM cells grow abnormally and eventually restrict airflow to the rest of the body. It's still unknown why LAM affects some women quickly while others live for years without symptoms.
The only current treatment for LAM is a lung transplant, and the five-year survival rate is just 50 percent.
In 1998, Dr. Elizabeth Henske of Fox Chase Cancer Center in Philadelphia discovered a genetic link between LAM and tuberous sclerosis, a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs. Two years later, Henske determined that LAM is triggered by the absence of the protein tuberin, which controls cell size and growth.
In 2002, Vera Krymskaya, a research associate professor of medicine at the University of Pennsylvania, found that an FDA-approved drug called sirolimus (also known as rapamycin) could mimic the function of the missing tuberin.
A clinical trial named MILES (for Multicenter International Lymphangioleiomyomatosis Efficacy of Sirolimus) has begun in Cincinnati to test the impact of sirolimus on LAM patients there and elsewhere. Other cities, including Boston, may join the trial in the coming year. Those interested can also register with the Rare Lung Diseases Consortium to get updates on MILES.
The hope is that this drug will slow the fatal disease down, giving women more time, said Dr. Frank McCormack, division director of pulmonary, critical care, and sleep medicine at the University of Cincinnati, who is running the MILES Trial.
"The science is certainly strong for a treatment for LAM," he said.
LAM patients interested in the MILES trial can go to thelamfoundation.org or call the LAM Foundation at 513-777-6889. 
