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Chasing clues to mystery disease
By Sandra G. Boodman, July 12, 2007

The initial symptoms were more annoying than alarming, Lynn Field recalls.
Her husband, Joe, had always been a bit forgetful, but during the summer of 2004 his memory got worse. Sometimes the 47-year-old electrical engineer said he didn't remember a conversation the couple had had the previous day. At other times he seemed distant; he stopped answering the phone in the afternoon, claiming that he was out of earshot or had turned off his cellphone.

Field, a Northern Virginia therapist who has a doctorate in counseling, interpreted her husband's behavior as signs of midlife stress. Joe had been working long hours at the computer firm he founded with her brother. He had bouts of insomnia. Their daughters had left for college. At her behest, they started seeing a marriage counselor to help navigate what she believed was a rough patch in their 23-year marriage.

Looking back, Lynn Field says she wishes the problem had been so prosaic. She never imagined that the next two years of their lives — especially hers — would be consumed by consultations with nearly a dozen doctors on two coasts, scores of medical tests, days spent ferreting out information and arranging appointments, and sleepless nights worrying about the ominous possibilities. Doctors finally figured out what was wrong, but only after ruling out cancer, stroke, syphilis, narcolepsy, alcoholism, vitamin deficiency and a seizure disorder — among other things.

In November 2004, shortly after starting counseling and a few months after his annual physical, Field went to see Mark Plescia, his family doctor of 20 years. He told Plescia about his insomnia, difficulty concentrating and general apathy.

"At the time it looked like textbook depression," recalled Plescia, who prescribed an antidepressant.

When that didn't help, Field consulted a psychiatrist, who switched his medication. The second antidepressant was equally ineffective.

Lynn Field was worried: Her normally serious husband had begun acting uncharacteristically "goofy." Once while talking to a visiting daughter he suddenly began dancing around the front lawn like a child. He often laughed at inappropriate things and put a denuded lamb chop bone in the refrigerator, then heatedly denied he'd eaten the chop.

"He really believed it," she recalled, adding that her husband thought she was overreacting and exaggerating the intermittent episodes.

When Joe Field returned to visit Plescia in April 2005, the doctor witnessed the troubling behavior. Field kept repeating himself and seemed unable to focus. Plescia immediately ordered a battery of tests: extensive blood work and sophisticated imaging of Field's brain to check for a blockage, tumor or stroke. The family physician said he also considered head trauma and alcoholism, but there was no evidence of either.

The tests showed no abnormalities, so Plescia sent Field to a neurologist. She ordered brain-wave monitoring, a spinal tap and a sleep study. All results were normal, but Field was getting worse, although he often seemed fine to those who didn't know him. But his productivity had slipped dramatically at work, and at home his behavior remained episodically odd.

Nearly a year after the first symptoms surfaced, his wife decided he needed a neuropsychological workup, which could reveal problems that had eluded medical tests. Because their insurer refused to pay, the Fields say, they picked up the cost themselves, part of an estimated $15,000 they spent out-of-pocket obtaining a diagnosis.

The tests of Joe Field's memory and cognitive ability yielded critical information: The frontal lobe of his brain clearly was not functioning properly. But no one knew why.

Pick's disease"
I kept getting these vague answers like, 'Well, we can't really say what's wrong — the only way we can be sure is on autopsy,' " Lynn Field recalled. "It was incredibly frustrating."

A second neurologist thought the problem might be undiagnosed bipolar disorder or substance abuse.

Lynn Field was skeptical. Her husband had been a social drinker and had never displayed psychiatric problems. She decided it was time to see a specialist, so she made an appointment with a neuropsychiatrist at Johns Hopkins.

After a 2½-hour appointment, the specialist delivered the grim diagnosis, one of an array of possibilities suggested by a neurologist: Joe Field had frontotemporal dementia (FTD), a progressive and irreversible disorder also known as Pick's disease.

Although its symptoms are similar to early onset Alzheimer's disease, Pick's disease tends to shrink the frontal lobe of the brain. It is characterized as a rare disorder by the National Institutes of Health and affects about 200,000 Americans. Most cases are not inherited — there is no history in Joe Field's family — and the disease appears to be caused by an abnormal form of a protein that is deposited in brain cells.

Some victims are as young as 20, but the average age of onset is 54. Behavioral changes, cognitive decline and difficulty speaking are common; so is impulsive or inappropriate behavior.

Behavioral issues
Joe Field, for example, sometimes cries while watching the television show "CSI," his wife says; at other times he talks to himself. Neurologists say that some patients develop problematic behaviors such as blatant shoplifting.

Determined to do something beyond coping with the inevitable decline, the couple flew to California in December to participate in a research study at the University of California at San Francisco and to consult with experts.

"It's definitely a tough, tough disease," especially for families, said neurologist Bruce Miller, chief of UCSF's Memory and Aging Center, who evaluated Joe Field and met with the couple. Many cases, he said, are misdiagnosed for years as depression, severe anxiety, obsessive-compulsive disorder and late-life schizophrenia.

Like Joe Field, most victims seem relatively unbothered by the implications of their condition.

"Generally it's not something I'm aware of," he said. "Most of the awareness that something is wrong is provided by people around me. That's good for me — but not for the people around me."

Field is taking medications; the one that helps the most is Adderall, an attention-deficit-disorder drug. He still goes to work every day, although his responsibilities have been severely curtailed. A few weeks ago he took a short trip to the Canadian woods with a close friend.

Mostly he spends time with his wife and daughters.

"They're afraid of the future, as am I," he said. "Lynn's been extremely supportive, but I know she struggles."

"This has been so hard," Lynn Field said.
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