Washington Post Article

[nattalliee]

11th Doctor Sees 'Ghost'

[gretchenR]

Thanks!

I never knew about the metallic symptom. Another one to add to my list.

[~MaryO~]

Here's the whoe thing...

 

11th Doctor Sees 'Ghost'

 

By Sandra G. Boodman

Washington Post Staff Writer

Tuesday, August 14, 2007; Page HE01

 

The worst moment of Jacquelyn Silverman's two-year medical ordeal came on her 36th birthday. She had donned a new pair of earrings that were a gift from her husband and was trying to slip on her glasses to admire them when she realized her face had gotten so fleshy the spectacles no longer fit.

 

"I just started crying," she recalled. "I felt I was literally growing out of my skin."

 

As Silverman learned much later, the mystifying constellation of symptoms plaguing her -- unexplained weight gain, stomach pain, severe acne, an awful metallic taste in her mouth, aching joints, the red rash on her neck -- was caused by a rare disorder that can confound experienced physicians.

 

Even after a Washington specialist (the 11th doctor she consulted) told Silverman he suspected he knew what was wrong with her, it took four more months of testing to be certain of the diagnosis -- and more than a year for her to fully recover.

 

"Everyone was treating the individual symptoms, but no one put it all together," she said. Several doctors suggested her problem might be psychological, Silverman recalled, a notion she flatly rejected. "I knew it wasn't. I kept saying, 'Something is wrong with me.' At times it felt like there was a ghost inhabiting my body."

 

Now 52, Silverman, who lives in Montgomery County, said her symptoms surfaced gradually when she turned 35. She began gaining weight and couldn't lose the 20 pounds she quickly packed on. Her longtime internist recommended a low-fat diet and exercise. Silverman joined Weight Watchers and a gym, but after two months hadn't lost an ounce.

 

"The more I would exercise, the more I got bigger," she said. Her face and fingers looked especially puffy.

 

Silverman said she spent the next year shuttling back and forth to the internist, who referred her to a series of specialists: a dermatologist to treat the acne that suddenly blanketed her face and back; a rheumatologist to examine her joints, which ached so much it felt like a recurrence of the mononucleosis she'd had when she was young; and a gastroenterologist, who performed a colonoscopy after Silverman complained of abdominal pain and bloating. Her dentist considered removing her fillings and replacing them with porcelain to eradicate the constant awful metallic taste in her mouth. Silverman's regular periods became erratic. She developed insomnia and hypertension.

 

"I was constantly hyped up and yelling at my kids," she recalled.

 

But no doctor could explain what was wrong. "I felt as though everything was ruled out -- but nothing was diagnosed," Silverman said.

 

Finally her internist suggested she might be depressed and should see a psychiatrist.

 

Silverman refused. She was convinced that her problem was organic; her husband never suggested otherwise. "He was unbelievable," Silverman recalled. "He'd say, 'You just have to keep seeing doctors until they figure it out.' "

 

At last one did. Silverman's internist, suspicious that her problem might be metabolic, referred her to endocrinologist Ace Lipson.

 

Silverman vividly recalls her first meeting with Lipson, whom she credits with salvaging her life.

 

"I walked in and started telling him my symptoms," Silverman recalled. "He listened and then asked me whether I had a picture of what I used to look like, which I didn't. Then he said, 'I need to do a lot of tests, but I think I know what you have.' I was so happy and so relieved when he said that."

 

Lipson remembers their encounter somewhat differently. He insists he was merely following up on the internist's "inkling of what was wrong. I'm not the hero."

 

The endocrinologist said he was fairly sure Silverman had Cushing's disease, a rare disorder that strikes about one in 500,000 Americans. Cushing's results in the overproduction of the stress hormone cortisol, which can wreak havoc with multiple organ systems.

 

Silverman, Lipson recalled, had the round "moon face" that characterizes patients with Cushing's or those on high doses of corticosteroids. Many of her other symptoms were classic manifestations of the disease. The usual cause is a nonmalignant tumor on the pituitary gland at the base of the brain.

 

Cushing's affects more women than men and is sometimes hereditary. Left untreated, it can cause serious illness or even death, according to the National Institutes of Health. Surgery to remove the tumor is standard procedure, but not a sure-fire cure: In an estimated 20 to 50 percent of cases, the tumor grows back, Lipson says.

 

The endocrinologist, who estimates he has seen about 20 Cushing's patients in his career, said that it can be a "very difficult diagnosis because the individual symptoms can lead you in very different directions" and because it is so rare. The disease can masquerade as lung cancer or psychiatric disorders, both of which cause similar symptoms.

 

"There have been stories of patients hospitalized on psych wards for years who really had Cushing's," Lipson said.

 

Silverman said she suspects that her father, who died in his 50s of a disease reputed to be lung cancer, may also have had Cushing's, though it was never diagnosed.

 

In March 1993, Silverman underwent a four-hour operation at the University of Virginia Medical Center to remove the brain tumor. She endured a long and rocky recovery in which she developed a form of diabetes for a time and had to be slowly weaned off steroids to replace the high doses her body had been manufacturing. Eighteen months after the operation, she finally felt like her old self.

 

"I am fine now and have been ever since," she said. Every five years she undergoes an MRI just to be sure there has been no recurrence.

 

Looking back, she recalls, her quest for a diagnosis was "really hard. It consumes you and becomes your life. My message is to ask, ask, ask questions. And don't stop until you have an answer." ?

 

If you have a medical mystery that's been solved, e-mail us atmedicalmysteries@washpost.com.

[judycolby]

That was interesting. I hope alot of people read it. Including doctors.

Judy

[mertie]

Great article! Thanks for sharing.

[~MaryO~]

The endocrinologist, who estimates he has seen about 20 Cushing's patients in his career, said that it can be a "very difficult diagnosis because the individual symptoms can lead you in very different directions" and because it is so rare.

 

Wow! I can beat this endo - I've met over 80. LOL

 

At the bottom of the article there's a place for comments... http://www.washingtonpost.com/wp-dyn/conte...7081001808.html

[radtravler]

MaryO - maybe you should be an Endo - you know more Cushies and just plain know more about Cushings. It still surprises me when doctors ask me about my disease. I think my husband knows more than they do.

[justashell]

What a great story! Hopefully more doctors will be on alert---and willing to look for zebras.

[Jade4u]

Here's a video made by a teenage girl who wants to be a surgeon and an endo. She talks about how difficult Cushing's is to diagnose and how she wants to be the kind of doctor who will listen to her patients, probably because she suffers from her own rare, chronic illness (Ehlers-Danlos Syndrome).

 

The audio doesn't match the video, but hey, she doesn't aspire to be a movie producer. I guess we have about ten years before she finishes med school and such. Hurry up and graduate, girlie! We need you!!!