Misdiagnosed: Mystery Diseases and Syndromes (page 2 of 3)

Gaining Weight on 1,000 Calories a Day

Eventually the doctors concluded that Joyce's restrictive diet had caused the jaundice and took her off the program. They pronounced her thyroid fine, reflecting that she could have been misdiagnosed as hypothyroid eight years earlier because her no-carb diet probably affected her test results. "They said that almost every one of my symptoms was something women just have at my age," Joyce says. "But I knew that there was something else. I didn't know what, though, so I had to believe what the physicians were saying: that I just needed to lose weight."

In 1994 Joyce, Al and Albert, now 12 years old, moved from San Francisco to Dayton, Ohio, when Al took a new job. Joyce was no longer seeing specialists but still struggled with her weight. "I was following a low-fat, low-calorie diet of 1,000 calories a day," she says. For example, a typical day might include oatmeal or low-calorie cereal with skim milk for breakfast, a salad for lunch and meat and veggies for dinner. No snacks and almost no sweets. She really stuck to the plan, she says, "but my weight continued to be out of control."

In May 1995 she and her mother made a 15-hour drive to the Mayo Clinic for an evaluation. The diagnosis was all too familiar: obesity. Then, the following year, Joyce's health problems began to accelerate again, even though she wasn't on any diet. Al was working a lot, and Albert did not like his new school, but Joyce was feeling too weak and ill to deal with the teachers or find another school. "I couldn't remember things, and feared I might be getting Alzheimer's," she says. She was having so much difficulty remembering dates, numbers and appointments that she wrote down everything she had to do in a notebook. "I used to panic about losing that notebook. It was my life."

At 70 pounds overweight, she was almost unrecognizable to old friends in Ohio, where she grew up. "People I'd known for years didn't realize it was me," she says, "and then they would be so embarrassed, they didn't know what to say."

Joyce's general practitioner in Dayton, Carrol Estep, MD, saw her struggling to lose weight and tried to pinpoint the cause of her health problems, sending her for various tests. In December 1996 Joyce was referred to a gastroenterologist after one of the tests revealed an abnormality on her liver. But it turned out to be nothing more than a cluster of blood vessels, another dead end.

When Joyce went to yet another specialist the next month, she felt that she couldn't deal with it anymore. She kept her appointment but was thinking, This is the last time. Just one more.

Joyce vividly remembers walking into the office of Susan Galbraith, MD, an endocrinologist who had recently finished a fellowship at Yale Medical School and begun a practice in Dayton, and realizing this time it would be different: "She didn't just look at me and say, 'You're fat. Start losing weight.' "

After more than 15 years and numerous doctors, Joyce was finally diagnosed: It was Cushing's syndrome, a rare hormonal disorder affecting an estimated 10 to 15 out of every million people. Dr. Galbraith told her later that she recognized the symptoms the minute Joyce walked into her office. Blood tests confirmed Cushing's disease, the most common form of the syndrome. Even though it had taken years to put a name to her symptoms, Joyce was overjoyed: "I was just so happy that I wasn't nuts all this time -- that it was actually something."

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