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COLUMBIA, Mo. (AP) — Glenorah Helfrich prefers the Latin name for the rare disease that clutches her with pain from globs of fat called lipomas that form beneath her skin, robbing her of energy and strength.
Adiposis dolorosa is "much prettier," Helfrich said, than "Dercum's disease," a syndrome discovered 125 years ago that continues to stump specialists and defy accurate diagnosis.
Dercum's has neither a known cause nor cure and by some accounts is among the 10 rarest diseases on Earth. Some suspect Dercum's is more common than perceived but is often misdiagnosed or not diagnosed at all.
Helfrich, 67, doesn't really know how long she has been afflicted. In 2008, she began having trouble lifting her arms. Within six months after moving from Afton to Columbia to place her husband, Tom, in a local nursing home, rapid weight gain caused her to go from a size-14 to a size-24 dress.
"You have no idea what that does to a woman's ego," she said. Forty pounds in six months. "Even Tom noticed that I was gaining weight. And he didn't notice anything." She noted the irony in light of her husband's worsening dementia and his lifelong indifference to hairstyle and makeup.
And there was pain, always the pain, the most universally debilitating symptom of the disease because the lipomas either rest on or press against nerve fibers. In one type of Dercum's, the lipomas themselves are painful.
Noted Dercum's researcher and physician Karen Herbst, whom Helfrich visited in May in San Diego, said the best way to understand the pain is to imagine what it's like when a joint or a muscle hurts. Similarly, with Dercum's, the fat tissue — and there's a lot because the disease creates more of it — can be painful.
"Most normal people don't feel their fat," Herbst said in a phone interview. "I just don't think that people understand that in Dercum's, there's actually pain in the fat tissue itself."
A Facebook network of people with Dercum's from around the world tells the story again and again about the frustrating path to diagnosis and perfunctory medical exams that lead to a common conclusion: "You're fat. You need to eat better and exercise more."
Helfrich had the same unhappy experience — a carousel of doctors and specialists, misdiagnoses and misunderstanding, until finally in the fall of 2012, a Columbia dermatologist mentioned Dercum's.
Looking back, evidence that she had the disorder had been present far earlier than 2008. Those nodules behind her ears, especially that one that pressed on her ear canal, when did they first show up?
Other, more pressing matters at the time had demanded her energy.
In 1999, Tom began having difficulty walking, his handwriting changed and a series of small strokes exacerbated the onset of dementia and erased any recollection of regular falls and missteps that left bruises and broken bones. Helfrich began a 4½-year mission of becoming a thorn in the side of the Department of Veterans Affairs, insisting her husband's condition was caused by something he encountered during his military service in Vietnam.
Also, before her own piercing pain finally won her attention, Helfrich watched her mother battle cancer. Twice.
Eventually, she made the hard decision to place Tom in a nursing home where he could get qualified, professional care. She found a way to pay the $4,000 monthly bill until the VA stepped in — after bankruptcy — and acknowledged a connection between Tom's dementia and Agent Orange.
A year later, the strange, piercing pain in her arm began. The nodules behind her ears caused awful pressure on her ear canal, and by the end of 2008, Helfrich was unable to continue her job with a local health care company. She was learning to live on a disability check when her mother's cancer recurred. Meanwhile, Tom's health rapidly declined, and he developed congestive heart failure. He died in 2011, four days after their 35th wedding anniversary. Her 88-year-old mother died 39 days later, a victim of inoperable brain cancer.
Even now Helfrich dismisses the notion that the prolonged emotional stress had anything to do with the onset of Dercum's, though Herbst lists surgery, physical trauma, "a series of strong emotional events" and menopause as possible triggers.
Dercum's was first identified in 1888 by Francis Xavier Dercum, who headed the University of Pennsylvania's neurological clinic and was later the personal physician to President Woodrow Wilson.
Researchers are studying the use of interferon alfa-2b as a potential treatment, according to the National Organization for Rare Disorders, or NORD. Alternative treatments include acupuncture, hypnosis, biofeedback and cognitive behavior therapy, according to NORD.
In a healthy body, small amounts of fluid containing toxins continually leak from blood vessels and are easily flushed out of the body. In Dercum's patients, too much fluid is released and settles between cells, creating inflammation. To clean up the toxic fluid, the body sends blood cells to the rescue and then produces fat to feed the cells. The fat, however, eventually builds up into solid growth.
Removing lipomas is rarely the answer because the process leaves behind inflammation, causing the body to over-respond with "a vicious cycle of the growth of fat," Herbst said.
There are ways to manage the symptoms and to decrease fluid in the tissue, so for many, the prognosis is they will live as long as someone without Dercum's. One key, however, is to avoid physical activity — overexertion is cited as a cause of the out-of-kilter fat growth — and stress.
More women than men apparently develop Dercum's, which can occur in children as young as 6 or adults in their 80s. A study Herbst published in 2007 shows the average age of diagnosis is 34.
Dercum's disease often leads to other life-threatening disorders such as diabetes, obesity, cardiovascular disease, pulmonary edema and blood clots.
Helfrich's condition remained undiagnosed and nameless. But the pain and the weight gain magnified.
And because her arm mobility was limited by pain, it reached the point that one day she was unable to use the restroom at Wal-Mart.
"I had to ask a perfect stranger to help me," she said. "You talk about humiliation."
There were lumps in her feet, legs, back and hands.
Finally, a dermatologist took a look at the fluid building up under skin, and in the fall of 2012, she was diagnosed with Dercum's disease.
"There was at least that relief: I have this. I don't just have lumps," Helfrich said. "It was a relief just to know. It just made it real."
The prevalence of Dercum's is unknown. Helfrich has never met anyone else with the disorder. Most of the members of a Dercum's Facebook group never knew anyone else with the disease until they joined the group. Because the disease is not communicable, state and public health systems don't track it.
In the United States, a disease is considered rare if it is believed to affect fewer than 200,000 Americans. About 6,800 such diseases fit that criterion, according to the National Institutes of Health. Though each disorder on the list is rare, when considered together, they affect nearly 30 million Americans, or almost 1 in 10 people.
Information from: Columbia Daily Tribune, http://www.columbiatribune.com