Air We Breathe Patient Stories

Patient Profiles: Learn More about Those Who Are Living with LAM

A retired microbiologist and mother of two grown children, Mary has immersed herself in learning all she can about LAM – and it’s not surprising given the 19 years it took for her to get an accurate diagnosis.

Before CT scans became available, the rare lung disease could only be diagnosed through biopsies, usually taken only when cancer was suspected.

Mary’s first symptom was a strange sensation in her chest, leading her to seek medical attention and to discover that one of her lungs had collapsed.

“Back in 1982, I noticed a strange sensation when bending over -- it felt as though something was sliding around in my chest area,” said Mary. “When I would lie down at night, my husband and I could hear what sounded like bubbles popping.”

Like many LAM patients, she suffered increasing shortness of breath, chronic cough and fatigue -- but she also went on to experience kidney involvement, including the development of several benign kidney tumors.

Though estrogen levels seem to play a role in the development of LAM – which often affects women during puberty, pregnancy or menopause -- Mary and her doctors are unsure about the role it played for her. She first noticed symptoms five years following her second pregnancy. LAM specialists are working to determine whether or not women can live symptom-free with the disease for long periods of time after its onset.

Mary has just begun to take sirolimus, a drug that helps to minimize symptoms of LAM and slow the disease’s progression. She is both curious and hopeful to see how she will respond to treatment with a low-dosage of the drug, which was just approved by the FDA in 2015.

Mary is also interested to see if the release of new clinical guidelines will result in many new diagnoses of LAM. She attributes the advent of the CT scan and work of the LAM Foundation to the medical community’s improved understanding of the disease in recent years.

For many expectant mothers, pregnancy is a time marked by excitement and joy. But for Laura, it was also a time of high anxiety. She first experienced troubling symptoms – shortness of breath and fatigue – the same week she learned she was pregnant with her daughter. It was March of 2007 and she was on vacation with her husband.

“We were carrying our things out to the beach, and I had to stop and set the cooler down because I was so short of breath, which was weird and unusual for me,” she explains.

It took nearly seven years and a misdiagnosis of emphysema before Laura learned what was causing her severe shortness of breath – a rare lung disease called LAM. Following a CT scan in the fall of 2013 and consultations with a pulmonologist, she was referred to a LAM specialist.

“I was both relieved and afraid when I was finally diagnosed,” she says. “I was relieved because I finally knew what was causing my shortness of breath, and I was terrified because I had never heard of LAM before.”

Routine activities like grocery shopping, cleaning the house and playing with her daughter are difficult for Laura, and climbing stairs or hills can be especially challenging. But she is feeling hopeful about living with LAM now that she has learned more about the disease through the LAM Foundation and begun taking sirolimus, a new drug that helps to slow the progression of LAM and decrease symptoms.

Like many LAM patients, Laura fears the possibility of a future lung collapse, but she is hopeful that treatment with sirolimus will stabilize her lung function.

“It is a huge comfort to have a community dedicated to helping support women with LAM,” she says.

Despite the difficulty of her diagnosis, Laura chose to continue with her enrollment in pharmacy school – she wants to help herself and others with rare lung diseases. She is currently in her fourth and final year at the University of North Carolina’s Eshelman School of Pharmacy.

Bronchitis, emphysema and asthma were all blamed on Stacey’s symptoms following their first appearance in 2007. At that time, she suffered from severe shortness of breath and coughing that worsened whenever she climbed stairs. A breathing test indicated that Stacey, a hospital Intensive Care Unit (ICU) nurse technician, had only 40 percent lung function.

A couple of years and one CT scan later, Stacey was diagnosed with LAM. Her doctors believe she had been suffering with the rare lung disease since the birth of her first child nearly 10 years earlier.

“The first 48 hours (after diagnosis) were very dark for me; knowing that I might die and not see my kids grow up was something hard to swallow,” she says. “But I woke up a few days later and wasn’t going to take that as an answer.”

Stacey began to use potable oxygen and continued to exercise as often as her lungs would allow her. But her symptoms worsened and she experienced a lung collapse in 2009. The following year, she opted to have a double lung transplant.

“I had to learn to breathe again with a different pair of lungs,” Stacey says. But she was determined to make a full recovery and was going for short jogs just three weeks after her transplant surgery.

For Stacey, the double lung transplant has enabled her to fully recover -- and today, she is symptom-free. Though she no longer works as a nurse technician, she is involved with the LAM Foundation and helps to counsel newly diagnosed patients at Vanderbilt University Hospital. She thinks the release of new clinical guidelines is a major advancement in treating those with LAM, but she thinks there is still a lot to be learned and hopes for a future cure.