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Little-known disorder gets its day in the limelight

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Saturday, April 15, 2006

Little-known disorder gets its day in the limelight

Fatal disease won't stop group of women from doing their part to fight it



Gina Dichter lives with a rare, degenerative lung disorder that only 1,500 known people in the world share, an even smaller number can pronounce and fewer still are trying to cure.

That last part, she's trying to change.

Dichter, 42, is one of an estimated 17 women in Washington diagnosed with Lymphangioleiomyomatosis, or LAM, a typically fatal lung disease that randomly affects women of childbearing age. It's difficult enough living with a disease when only a handful of others share the same diagnosis. There are no support groups, massive publicity campaigns or Races for a Cure to make you feel less alone. Now imagine having to raise huge amounts of money to fund your own search for a cure.

But that's precisely what she's done. In the eight years since she was diagnosed, Dichter has become a powerhouse fund-raiser on behalf of others, like herself, who are affected by the disease.

"The lack of medical understanding of LAM is terribly frightening to me," said Dichter, who lives in Bellevue with her husband and two children, 13 and 10. "It keeps me up at night." Dichter walks on a treadmill at home to keep her lungs as healthy as she can while she races the clock. She no longer runs, the way she once did. And her lungs, which have about 50 percent less function than they used to, give her trouble when she walks uphill.

She's hoping that promoting medical understanding will lead to a treatment that could prevent her death.

In fact, the money she and others have helped raise stands a good chance of helping not just themselves, but those with related diseases, including cancer.

"The Seattle group is our largest source of funds," said Sue Byrnes, founder of the Cincinnati-based LAM foundation and the mother of a LAM patient. "It's a real challenge to raise money for a rare disorder, but they've really come through."

In under a decade, The Puget Sound Friends of the LAM Foundation -- primarily composed of Dichter's family and friends -- has raised more than $1.6 million through personal letter-writing campaigns and an annual auction. That amounts to nearly one-third of all the money now going toward research to identify both a cause and a cure.

There's been progress on both those fronts. The hallmark of LAM is cysts that form in the lungs, creating a signature "honeycomb" look and interfering with the body's ability to get needed oxygen. It is often misdiagnosed as asthma or emphysema in early stages, and frequently one of the first signs, besides shortness of breath, is a sudden collapsed lung.

Although the disease was first described in 1937, it wasn't until about 2000 that researchers, using money partially raised by Dichter and her friends, pinpointed the genetic mutations involved in causing LAM.

The random mutations -- to genes that normally suppress uncontrolled cell growth -- happen spontaneously and are not hereditary. The specific mutations also appear to be linked with another relatively rare disorder called tuberous sclerosis, a disease that causes a proliferation of growths throughout the body.

Because of this association, researchers now believe it's possible as many as 250,000 women have LAM, but have not been officially diagnosed. They also speculate that an understanding of these genes could have broader implications for other sorts of tumors and cancer.

The discovery of the particular genes involved in triggering LAM has also led to an unraveling of the molecular pathway that causes the disease, which in turn has led to the identification of a drug that could potentially halt its progression.

Next month, the group hopes to pull together a final $700,000 to launch a clinical trial of the drug, called Rapamycin. The trial is also being partially funded by the LAM Foundation; Wyeth Pharmaceuticals, which makes the drug; Cincinnati Children's Hospital; and the National Center for Research Resources Office of Rare Diseases.

"This may not seem like a hefty amount in the world of medical research, but for a rare disease with a network of only (about) 1,000 patients, government and corporate funding is difficult to attract," said Krista Kenner, 26, of Seattle, whose mother, Sharlene Van Winkle of Bellingham, has the disorder.

The three -- Dichter, Kenner and Van Winkle -- met recently in Seattle to cook up a strategy for their "Breath of Hope" fund-raising auction at the Washington State Convention and Trade Center in May. Their efforts have attracted notice by other rare disorder advocacy groups, all of which struggle to raise funds in a competitive arena with the big-gun conditions such as breast cancer and heart disease.

Like organizations representing other rare disorders, the LAM group faces a number of unique challenges, one of which is that patients with LAM, though they may die of the disease within a few years to a few decades after diagnosis, for the most part don't look sick. Obscurity is an issue, as well. Most people know someone who has been touched by high-profile diseases, such as diabetes or arthritis. Companies and other donors are more likely to reach for their checkbooks when they know someone personally who has been affected, and where their money is likely to help a large population.

Dichter and her group attribute much of their success to letter-writing campaigns in which they try to personalize the disease by letting recipients see the women behind the label. It's laborious, but it has been working.

Dichter discovered she had LAM after two difficult pregnancies during which she experienced several lung collapses. Eventually a pulmonologist made the diagnosis. She was 34 years old at the time. Her husband got the original call. "He had to break it to me," she said. "He was a mess."

In later stages, patients struggle to get the breath to go up stairs and require portable oxygen for even minor exertions such as gardening. Lung transplants are a treatment of last resort. Although some women live for decades with the disease, the typical length of survival is about 10 years.

Some doctors believe there may be a hormonal link and that pregnancy can accelerate the progress of the disease.

For Van Winkle, now 51, the diagnosis came after years of being treated, unsuccessfully, for asthma, which it turned out she didn't have. Eventually, she began coughing up trace amounts of blood, which she first attributed to irritation from painting furniture. She was 47 years old when specialists finally identified the real problem. A definitive diagnosis of LAM usually requires a high-resolution chest CT scan, which typically discloses the presence of cysts in the lungs. About half of those who have it also show the presence of a type of benign kidney tumor.

As soon as she learned about her mother's diagnosis, Kenner quit her dream job with a public-relations agency in New York and moved back to Seattle.

"The first thing I told her is we've got to be proactive," Kenner said. "We have to do something."

The disease can claim its victims at any age. The LAM foundation recently lost seven women within the span of a month, including one 27-year-old bride-to-be, who died two weeks before her wedding.

That only added urgency to Dichter's own uncertain deadline for finding a cure.

"I would have liked to have just been sending my check in to the (cancer) organizations instead of having this," Dichter said. "It really impacts every decision I have to make."

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