Spontaneous Inflating Abdomen: Untreated, Undiagnosed and Unhappy

March 11, 2008 — -- The first time Jane Kim's belly ballooned to twice its size, she wasn't afraid.

"I was in the emergency room already [for other things]," said Jane, who preferred that her real name not be used. "They told me not to worry, that it was gas or something. They told me it would go away."

And it did go away -- suddenly, as if it had never happened. Her abdomen shrank from the size of a basketball back down to its normal appearance in a matter of minutes, Jane says.

Since then, the 45-year-old says, her abdomen's size has been erratic, expanding and contracting from hour to hour.

"It's very strange," Jane said. "It will be normal -- and then it blows out. I look nine months pregnant."

To date, Jane's condition is unheard of; shuttled from specialist to specialist, she has stumped the more than 20 doctors she says she's visited.

None of them, she said, had seen the phenomenon before or knew what to do with it. Currently, she lives in a state of struggle, waiting for some form of answer or treatment.

Slipping Into Illness

Ten years ago, Jane says she was the picture of health. She loved skiing, tennis and golf. She had never needed to visit a doctor or a hospital.

Suddenly, she says her health went into a tailspin: She suffered a mild stroke, a heart attack and came down with a host of problems including copious bleeding, headaches and fatigue. Later, she says she developed an autoimmune disorder that causes blistering skin sores.

However, it's her belly ballooning out that has Jane the most frustrated. She says the phenomenon happens several times a day for hours at a time; it can be painful, and makes it difficult for her to breathe. But Jane says the worst component of it is that it's not always there.

Jane says that skeptical doctors who didn't see her belly expand sent her away without an attempt at diagnosis. Other doctors saw her only when the belly was fully distended. Of course, this led to other conclusions.

"They would ask, 'oh, when are you due?' I would tell them that there's no baby," she said.

When she was able to prove to physicians that her condition was real, there were no real answers.

"When I saw her [belly], I thought we better make sure of what's really happening," said Jae Lee, a family practitioner and radiology specialist. He immediately took an X-ray of Jane's stomach. "But it clearly showed no problems," he said.

With the exception of Lee, all of Jane's physicians refused or were not available to comment on her condition.

Additionally, no medical institution ABC News contacted for the story had ever heard of a condition like Jane's.

Other doctors have run numerous tests, prescribed medications and scanned Jane's body for any possible clues. She says the results have been fruitless.

"The doctors deferred me to more and more specialists, but then [those specialists] would say they can't do anything," she said. "In front of them I would laugh, but I would turn around, and inside I would feel like I was crying."

No Diagnosis

While Jane's medical problem may be unique, her situation is not.

"People come to our organization every day with this situation," said Virginia Ladd, president of the American Autoimmune Related Diseases Association. "It's very difficult for them."

Ladd says that being sent from doctor to doctor without diagnosis or even real acknowledgement can lead to a downward spiral of additional problems.

"It's dehumanizing, number one -- then you become very frustrated when you're not taken seriously ... you become depressed," Ladd said. "Then your family gets upset, the money goes, your mate starts to question you..."

The desperate need for a diagnosis, and the lack of it, is a crucial problem for many Americans.

One in seven people with rare disorders will remain undiagnosed for six or more years, according to the National Organization for Rare Disorders.

Marianne Genetti was so frustrated by her lack of ability to get a diagnosis that she formed her own organization, In Need of Diagnosis.

"In the medical field, if you do not have a diagnosis you do not exist," said Genetti. "They only count noses when you have a diagnosis."

Genetti also notes that friends and family stop believing the patient if they haven't received the sanction of a doctor's diagnosis.

"It's just the way things are -- people want solutions, if there isn't a solution they don't want to hear about it," Genetti said.

Holding Out for Hope

Jane says her doctors have urged her to see other specialists, but she says that at this point she has already lost her job due to her illness, and along with it her health insurance.

Her medical expenses have crippled her financially; she lost her car and friends had to move in with her to help pay for her living expenses.

Jane says her experiences with her mysterious illness and the health-care world have been frustrating and, at times, crushing.

"The doctors have given up on me," said Jane. "My doctor said, 'look, we couldn't find anything. We did all these tests. ... I can't help you anymore. ... I don't have any answers for you.' I told her to please don't give up on me, don't kick me out."

While her situation has been difficult, Jane does her best to combat the inevitable stress and anxiety.

"Sometimes I'm afraid ... but every day I'm trying to be OK and happy," she said. "I pray that someone can help me, that people will open their eyes and their hearts to my problem."