Sarah Poitras was 28 when she first noticed being short of breath as she climbed her six-flight walkup apartment in New York City. But soon it got worse, and she couldn't even navigate the short subway stairs on her way to work.
Doctors initially thought she had asthma, but after a year of false diagnoses and worsening breathing, Poitras learned she had a rare and sometimes progressive lung disease: lymphangioleiomyomatosis, or LAM. Sometimes fatal, it strikes women in the prime of their lives and there is no cure.
"You think that you're lucky because you are not faced with only having six months [to live], but it's the unknown that's scary," Poitras, now 31, said. "I have no idea. The first doctor said it could be seven years [to live] or it could be 20. My current physician won't give me any sort of number. She's pragmatic and wants me to live every day."
In LAM, an unusual kind of smooth muscle cell grows uncontrollably and invades the airways, blood and lymph vessel in the lungs. The accumulation of LAM cells form clusters and cysts, which destroy healthy tissue. Over time, these cells create holes in the lungs and make breathing a daily battle.
The LAM Foundation, which was founded in 1995 to provide education, research and support for patients, is aware of 1,500 cases of the disease worldwide. But they estimate there might be as many as 250,000 people who have gone undiagnosed or misdiagnosed.
There is a genetic link between LAM and tuberous schlerosis, another rare disease that causes tumors to form, especially in the kidney. About 40 percent of all LAM patients also have kidney tumors.
In a worst-case scenario, a woman might have total lung collapse and need a lung transplant. Others can live a relatively normal life with some shortness of breath.
Because LAM does not show up on a standard X-ray, more complex tests such as CT scans and lung biopsies, among others, are required for a proper diagnosis.
The disease begins most often during the childbearing years. Poitras, who works in health care marketing, was officially diagnosed at 30 last June, six months after she married.
She and her husband had talked about having children, but that is now out of the question. Doctors believe that the hormone estrogen might play a role in causing LAM and pregnancy might speed up its progression.
But many doctors, even pulmonary specialists, are unaware of the disease's symptoms and often misdiagnose it as asthma, bronchitis or emphysema. Early diagnosis can lead to earlier treatment that helps slow the progression of the disease.
For Poitras, that took nearly a year. "I started noticing it got harder and harder to go up stairs," she said. "Instead of being out of breath at four flights, I was significantly winded at two."
During her honeymoon in Brussels, she said, the weather was particularly cold. "I remember walking up the hill to my hotel and I was winded there as well," she said. "That was the impetus to mention it to my primary care physician."
Her doctor measured her lung capacity with spirometry, a common test to diagnose conditions that affect breathing, and sent her home with an inhaler for what he thought was asthma.
"I left and didn't use it but then six months later, it was much more significant and I started using it and it didn't really help," she said.
So Poitras turned to a pulmonologist who administered two breathing tests -- spirometry, as well as a lung volume test -- and again confirmed she had asthma and put her on a different medicine.
"He thought I didn't know how to use the inhaler and taught me how to use it, but after a few months I wasn't getting any better," she said.
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.