Imagine getting short of breath doing the simplest of daily activities: walking up the stairs, going grocery shopping, carrying the laundry basket or lifting your young daughter into the air.
For Alanna Nelson, a Jewish woman from Elkins Park, this is her daily life, ever since she was diagnosed in 2007 with a rare — and often fatal — lung disease called Lymphangioleiomyomatosis, more commonly called LAM.
Nelson explained how she wakes up every morning "with pain in my chest" — she described it as "pressure, like someone is squeezing you around your chest" — but still tries to manage each day as normally as possible, for as long as possible.
LAM is a progressive disease that affects women exclusively, explained Dr. Robert Kotloff, chief of the advanced lung disease and lung-transplantation section at the University of Pennsylvania Medical Center. He said that Nelson's disease is so rare that most doctors don't even know about it. Hence, when women present with symptoms such as shortness of breath, a collapsed lung and chest pain, they are frequently misdiagnosed with a host of other, more common diseases, like emphysema, chronic bronchitis or asthma.
LAM affects women of all races, he added, usually during childbearing years. While the cause is still unknown, it's suspected that LAM is a disease under hormonal control, and an increase in estrogen, such as during pregnancy, can worsen the situation.
Connecting the Dots
For Nelson, 39, a member of Congregation Beth Sholom, it was a long and painful road she traveled down to get to her eventual diagnosis. She had her first lung collapse in 2000, at which time her doctor told her it was just a spontaneous collapse.
Over the next six years, Nelson, an accountant with multiple degrees, climbed the corporate ladder, while also functioning as a wife and the mother of a young daughter, who was born in 2004. But in 2006, in the hospital for unrelated medical matters, Nelson was found to have benign cysts on her kidneys — a symptom common in about half of LAM patients, noted Kotloff. In February 2007, Nelson suffered another lung collapse, more severe this time.
She underwent surgery to adhere her lung to her chest wall, and perhaps prevent another collapse. But another did occur three months later. Her doctor connected the dots, and in August 2007, she got the news that would change her life — a diagnosis of LAM.
According to Leslie Sullivan-Stacey, president and CEO of the LAM Foundation, the National Institutes of Health report only about 1,500 confirmed cases of LAM in women around the world; scientists, however, estimate that the actual number of women with the disease is between 250,000 and 300,000. The discrepancy, she noted, is because many women are misdiagnosed or haven't yet been diagnosed.
The LAM Foundation, a nonprofit headquartered in Cincinnati, was founded in 1995, and helps fund research focused on finding a cure and an effective treatment for prolonging life.
Sullivan-Stacey added that the organization is trying to reach out to emergency-room doctors — as women may show up in the E.R. with a lung collapse — and to gynecologists, who are often a woman's sole medical provider; after all, LAM "is a women's disease."
In patients with LAM, said Kotloff, the healthy tissue in the airway becomes clogged by cysts; if those cysts rupture and burst, it can lead to a lung collapse, something Nelson knows all too well. Since her official diagnosis, she has had several more lung collapses — "too many to mention" — usually resulting in hospitalizations with surgery to keep her lungs open.
Her husband, Adam, has been very supportive, taking over most of the household chores and "running the errands I used to do." She also said that her brother and mother, who live in New Jersey, have pitched in to lend a hand during her hospitalizations, and her dad calls from Florida to see how she is doing.
As recently as 10 years ago, women had less than a decade to live after a diagnosis of LAM, noted Dr. Elizabeth Henske, attending physician and senior member at Fox Chase Cancer Center. Significant strides have been made in the last decade in the understanding of LAM, said Henske, an award-winning leader in LAM research.
She added that there are several similarities between the way LAM cells and cancer cells mutate and grow. Clinical trials are under way, she said, that may bring new understanding of the disease and lead to possible treatments.
Hoping for a Cure
In the meantime, however, Nelson is trying not to let her life with LAM stop her, and while her illness is still in its early stages, she still goes to work, even though she said that "the simple act of breathing is tiring." She was even able to walk with her husband and now 3-year-old daughter in the local Israel Independence Day Parade, though she acknowledged she walked a bit slower than those around her.
She admitted to being scared about the future as her condition progresses, including the use of oxygen and, possibly, as a last resort, a lung transplant, though that would be many years away. She noted that she's "counting on medical science to find something before then."
She's also hoping for a cure, or at least a medical treatment that will make living with LAM more bearable and extend her life.
Nelson never thought of herself as an activist. But something her daughter said spurred her into action. When she returned home from yet another hospital stay following a lung collapse, the child remarked, "Mommy, when I grow up I want to be a doctor, so I can make you better."
Wiping away a tear as she recalled that moment, Nelson remembered thinking: "You know, I've got to do something."
Since then, she has been actively working to help others cope with LAM. When she got her own diagnosis, "there was no one to turn to because no one knows about it," and she said she felt "so alone."
So she founded Philadelphia Friends of LAM, a local chapter of the LAM Foundation, to raise general awareness of this rare disease. In February, she and some friends organized a fundraiser that was held at Reform Congregation Keneseth Israel in Elkins Park, which raised $20,000 for the LAM Foundation.
And on July 17, the Dunhill Golf Classic will be held at the Five Ponds Golf Club in Warminster, with proceeds also going to benefit the foundation and LAM research.
As her boss once told her, this disease picked the wrong woman — and Nelson agreed. She decided that LAM would never beat her, and so became "part of the solution" instead.
"I've never been a person to 'fight for a cause,' " said Nelson, "but this cause found me."
For more information, log on to: thelamfoundation.org.