Poitras and her husband moved and the doctor attributed her breathing issues to stirring up dust and prescribed new medication. When her breathing didn't get better, she sought help with a second specialist who used a diffusion capacity test or DLCO, which revealed "something abnormal," she said. Then a CT scan confirmed Poitras had cysts on her lungs, which he had seen in a previous case of LAM.
"I was someone who was always very good about going to the doctor," Poitras said. "I never skip a physical and I get my teeth cleaned twice a year and go to the dermatologist. The fact that it took so long to get diagnosed is kind of shocking, especially because if one test had been done earlier; it was such an easy test."
Poitras eventually found Dr. Jeanine D'Armiento a specialist at the Center for LAM and Rare Lung Diseases at Columbia University, who helps give her a positive outlook.
"My doctor told me to stay off the Internet, which I did," Poitras said. "My husband and mom went a little crazy trying to keep the terrifying things from me."
Since then, Poitras continues to work and has become active in the LAM Foundation, hoping to use her experience in health care communications to develop educational programs for professionals. She also shares her experience with others on the foundation's patient Facebook page and has set up an online fundraising account to seek a cure.
"The disease is just brutal," said Jill Raleigh, executive director of the Cincinnati-based LAM Foundation, which was responsible for setting up the first national registry of patients.
But there is hope. The foundation has actively supported research, including the MILES study, which was published in March in the New England Journal of Medicine. The immunosuppressant drug Sirolimus showed promise in some women with moderate LAM.
Scientists are also looking at blood markers that can predict the progression of the disease. "The progression is not the same in all women," she said. "There isn't a typical LAM patient.
"Psychologically, what I hear from most patients when they are first diagnosed is there aren't any other LAM patients," Raleigh said. "They are alone in the disease."
But the foundation sponsors 24 clinics across the country, with experts in LAM care. "We want to get the word out to pulmonologists," she said.
The foundation also hosts an international research conference each April that offers symposiums for both professionals and patients.
"For patients, topics are geared toward things they deal with on a daily basis: how to tell your kids, dealing with oxygen, disability," Raleigh said. "The beauty of it is that patients can meet another person who suffers from the disease. All of a sudden you have 100 women dealing with the same thing in the same place."
Poitras, a newcomer to the foundation, is now its top fundraiser, Raleigh said.
With medications, her breathing has improved and her health is stable, although Poitras needs oxygen to exercise, an important routine to keep the rest of her body healthy.
She and her husband, Justin Poitras, 31, an information security specialist, make the most of their young marriage and their love of travel. The couple has already seen Tokyo, Spain, Amsterdam, Germany and Copenhagen. They plan to go to Iceland in August.
"My husband and friends and family keep me upbeat and the possibility that I could be part of something bigger in finding a cure," Poitras said. "I am not crazy optimistic. I am not stupid. I know what this means. But to be able to participate in science is pretty interesting."
For more information, go to the LAM Foundation.