Misdiagnosed For Years, Woman Seeks To Educate Regarding Rare Disease

Like most moms, spends a lot of time thinking about her children and their future.

She thinks about special milestones like Sweet 16s and drivers licenses, proms and weddings.

But for Nagle, these daydreams are bittersweet, She knows, barring a miracle, she won't be there to share most of those precious moments.

Nagle, 38, suffers from Lymphangioleiomyomatosis (LAM), a rare, genetic, progressive lung disease that generally strikes women during their childbearing years.

There is no cure and, as of today, there is no accepted treatment.

Nagle has a rather aggressive form of the disease, one that generally carries a life expectancy about 10-12 years. Unfortunately, by the time she was diagnosed in 2010, she had already been experiencing symptoms since 2004.

"My first serious lung collapse, which was 90 percent collapsed, was in 2006, about a year after Kayleigh-Ann (her youngest daughter) was born," she said.

What followed was four years of hospital visits, tests, frustration, anger and fear.

"I was misdiagnosed four times with different possibilities of what it was," she said.

It was those experiences, along with a general lack of knowledge about LAM in the medical community that prompted Nagle to go public with her story.

"It's important to get information out about this disease to patients and doctors," said Nagle, who suffers a collapsed lung about eight times a year. Each time, she drives into Boston for treatment because, as she described it, local emergency room physicians have very little knowledge of LAM and how to deal with the symptoms.

"E.R. doctors have no idea what LAM is," she said. "And that delays any action to be taken. You tell them you have LAM and you have a collapsed lung and they kind of get this faraway look in their eyes."

After she was diagnosed, Nagle began researching and learning as much about LAM as possible. One thing she found was that the disease was extremely rare and that it was more gender-specific than breast cancer.

Nagle's research also connected her with the LAM Foundation, an Ohio-based organization that has become a lifeline. Her connection to the foundation is Madeline Nolan, who not only works for the foundation as a patient liaison, but is also a LAM patient herself.

"I've been a liaison four years. I've also served on the foundation Board of Directors," said Nolan, who was diagnosed in 1999 with a less aggressive form of the disease than Nagle. "For me, I wanted to learn as much as possible about the disease. I figured that the more I participated, the better it would would be for me and for other women."

Through Nolan, Nagle became part of a New England LAM support group. According to Nolan, the LAM Foundation has identified about 50 patients in New England and roughly half participate in the support network.

The group meets twice a year in person, including a luncheon hosted by Nagle in Tewksbury a few weeks ago. But throughout the year, the women stay connected via social networking like Facebook.

"I rely on these women for everything," said Nagle. "You can talk to them, you can complain to them. They're great."

According to Nolan, the LAM Foundation has four primary purposes. They connect patients with medical specialists, facilitate patient support networks, raise awareness about the disease and support research.

Progress is being made, said Nolan. An experimental drug has shown signs of success in slowing and even reversing some symptoms of the disease.

Nagle holds onto that hope, but realizes a reliable treatment may mot come soon enough to help her. A lung transplant may come into play at some point, but, with LAM patients, there is a good chance the disease could return in the transplanted organ.

While Nagle has accepted her prognosis, she said she refuses to wallow. She and boyfriend John Cave have been together five years. Between them, they have six children, ranging in age from 6 to 20. Nagle said her focus is on teaching, nurturing them as much as possible in the time she has.

"My thinking isn't like, 'oh my God, I'm dying.' It's 'oh my God, I'm leaving my kids,'" she said.

"When (the diagnosis) really settled in, I started thinking, 'what do I have to do with my kids and for my kids. What do I have do to teach them and instill morals and values in them, now?'"

While the disease is genetic, it is not hereditary, so she has no fear of having passed it on to her daughter.

According to Nolan, the LAM Foundation has identified approximately 2,000 LAM patients worldwide. However, foundation researchers believe there could actually be as many as 250,000 women with LAM, whose symptoms have been misdiagnosed as asthma or other ailments.

For more information on LAM, log onto http://www.thelamfoundation.org.