BAHAMA -- A lifetime of battling illness was one thing, but Jana Sheets had grown tired of fighting obscurity.
Everywhere she went, Sheets was the first patient doctors had ever seen with her disease -- an extraordinarily rare abnormality of the lymph system called lymphangiomatosis. It causes a proliferation of cysts that damage bones and organs, often fatally.
There were no treatments. No research programs. No fun runs to raise money and awareness. "They don't even know how many people have it," she said.
But today, she will celebrate a bit of notice for her disease when it is featured in an episode of "Mystery Diagnosis" on the Discovery Health channel -- attention that comes in no small part because of Sheets' work.
A wispy 95 pounds and tethered to an oxygen tank at her home outside Durham, Sheets founded the Lymphangiomatosis & Gorham's Disease Alliance, which offers support and guidance to people who have the disease. Since she launched the Web site two years ago, more than 230 people have contacted her from around the world, all desperate for her help finding a doctor, a hospital, a researcher.
So when the producers of "Mystery Diagnosis" decided to feature the illness on their show, they contacted Sheets, who readily recommended an 11-year-old girl in Wisconsin as the program's subject.
"I was so excited," Sheets said. "Maybe someone will see it and be interested in doing research."
For so-called orphan diseases, securing research dollars is the Holy Grail. Because so few people suffer from such illnesses -- by definition, a disease is rare if it afflicts fewer than 200,000 Americans -- researchers and drug companies are loath to study them. The market for potential therapies is considered too small to justify the research investment. It's a boon to get a bit of limelight on programs such as "Mystery Diagnosis," "Grey's Anatomy" or "House," said Mary Dunkle, vice president of communications for the National Organization for Rare Disorders.
"I think those shows do a lot of good to get these diseases out there and raise awareness," Dunkle said. "People don't realize how many are affected. One in 10 Americans has a rare disease. That's a lot of us."
And there are a lot of rare diseases to choose from -- more than 6,000.
Alon Orstein, executive producer of "Mystery Diagnosis," said his program explores the universal struggle people go through when they need to know what's wrong with them.
"That's a big thread in the show," Orstein said, noting that many who have rare diseases are initially misdiagnosed, leading to potentially harmful treatments.
For the lymphangiomatosis episode, he said, program officials contacted Sheets to find a patient with a compelling story. She referred them to Claire Mantey, 11, of Green Bay, who had been misdiagnosed for several years until escalating symptoms finally compelled a different conclusion.
It's a story Sheets herself could have told, but her case went back too far for the program's researchers to recreate. At 35, Sheets is one of the oldest survivors of her illness.
She has battled the disease since she broke her leg at the age of 6, and doctors later discovered cysts filled with lymph in many bones and later in her lungs. The cysts grow unchecked and clog normal function, leading to organ failure and death.
Doctors have few remedies. Five years ago, Sheets had the first-ever lung transplant for her illness at Duke Hospital, and moved to the Triangle to continue her care.
Now, however, she has no further options, and her lungs are failing. She was urged to contact hospice but has resisted. "I haven't given up," she said.
Instead, she said, she'll work as long as she can bring attention to the disease that will likely kill her and however many others, unknown and uncounted, who suffer.
