Mystery solved: Struggle with Cushing's syndrome was extended by years of missed diagnoses

BY HARRY JACKSON JR.
JUNE 20, 2005
Copyright (2004) St. Louis Post-Dispatch
Republished with permission from the Post-Dispatch
http://STLtoday.com

Dr. Stacie Laff had just finished her residency in pediatrics and had started a private practice in Belleville. The experience of medical training had been humbling. But she admits now, she may have allowed herself to be too humble, and it almost cost her her life.

In 1996, she started falling apart. It was an ordeal that would age her 30 years over the next seven.

The first sign was high blood pressure, as high as 190/110. It was something that ran in her family, so she accepted it and went on with life and a pill.

She developed diabetes and soon was on insulin and other medications.

Her stomach bloated as she gained weight.

Eventually, doctors diagnosed metabolic syndrome, a condition with a combination of disorders - high blood pressure and cholesterol, diabetes, a waist measurement more than 35 inches for women, and a few other maladies.

But that didn't explain everything.

Laff worked out daily - ran, swam, walked - and she was only 5 pounds over her fighting weight of 105.

At a doctor's visit, she pointed out her red, ruddy face. The doctor told her she had always been flushed.

Doctors ran tests and found nothing other than the symptoms of metabolic syndrome.

They were wrong.

Connecting the dots:

Laff's weight continued to creep upward, even when she ate things as light as salads and lean meat. She eventually became 30 pounds overweight.

About three years ago she went on the Atkins diet. But even on a diet of basically protein and 10 grams of green vegetables per meal - no bread, no sweets, no grain-based carbs - her blood sugar would spike as if she were drinking pancake-syrup cocktails.

Her hair began to fall out, and she began to look much older than her 30-something years. Her legs bruised when she jogged. "And I hadn't had a period in seven months," she says.

Laff saw a cardiologist and an endocrinologist, and they attributed her symptoms to the metabolic syndrome.

In each case, she pleaded for answers. Looking back, she sees that she should have been more assertive.

A physician herself, she says she was still a little gun-shy about questioning doctors. "In residency, you're kind of belittled a lot for asking questions," she said. "I kept saying, 'There's something wrong,' but I didn't have the courage to say, 'Do something about this.'

"But now I would. I've gotten a little tougher, a little older."

So she endured the pile of medications costing $300 a month in co-pays.

More tests, more pokes, more prods, more fluid checks found nothing.

Still, "My gut was out to here," she says. "I run, I swim, I'm active, and I have this belly. I looked pregnant."

More problems:

Doctors continued to tell her that her condition was due to metabolic syndrome, even though the only fat on her body was in her stomach, and a hump had formed on her back.

They called her stomach just a "pooch." No one explained why her hair fell out, her skin was thin as tissue and aging, her face was suddenly pie-shaped and her legs bruised.

By mid-2003 she was up to 140 pounds. But her legs were slim and she had no pouches on her upper arms. Only her distended stomach held the weight.

She still ate lean meat and vegetables at meals.

"I'm in medicine. When something like this happens, you may not always know why, but you should try to find out," she said. "It was like screaming out ... 'Take a look at the big picture.'"

Life had become a downer, too. "Life was horrible. Every other day, someone asked, 'Dr. Laff, when are you due?'"

The solution:

She surrendered. If her stomach was simply belly fat, she'd get it off with liposuction.

"I'm not a vain person, but it was a quality-of-life issue," she says. "I wasn't undisciplined. I was disciplined through college, medical school, residency. I run a private practice. I'm a single mom taking care of my daughter. I'm in the wind symphony, the Washington University orchestra. I'm doing a million different things. This wasn't about discipline. I wasn't sitting around all day eating bonbons."

Dr. Tim Jones, a plastic surgeon with Genesis Cosmetic Surgery in west St. Louis County, examined her.

"I see him look at me," she says. "I'm dying because I'm so embarrassed. He walks up to me, and he pokes at my stomach. It was an appropriate touch, scientifically pinching at it."

Jones saw a midsection so far out of context he was suspicious.

"He told me he'd seen a lot of pooches," she said. "This was not a pooch."

Jones recalled her case: "There were a lot of steroids coming from somewhere. She didn't have the normal pattern of being fat. The picture just didn't fit."

A CT scan turned up a tumor atop one of her adrenal glands. It was about the size of her thumb. It wasn't cancer. Instead, it was malfunctioning adrenal tissue. For the past six years, it had been squirting large amounts of cortisol into her body, enough to give her the symptoms of extreme steroid abuse.

Jones said, "She had the classic symptoms of Cushing's syndrome."

Laproscopic surgery removed the tumor in May 2004 and cured her.

"My parents were here, and they noticed the first day I looked better," she says.

She was back to work in a week.

She's off her blood pressure and diabetes medicines, including insulin. Her round face is back to its normal shape. The pooch on her stomach has flattened. The weight she gained is gone.

"I went from dying to healthy," she says.

Aftereffects:

Now, Laff is fighting to regain her youth. She's struggling with physical damage done to her body. Doctors had to give her steroids to wean her off the massive amounts of cortisol she endured.

"I'm back in a 4-6 (dress size), and I can wear jeans again."

Her hair has returned, the texture of her skin is improving, and she takes calcium supplements to rebuild her bone density. Her good cholesterol is up; her bad cholesterol is down, "with no medication."

"My parents say I'm a lot more calm and mellow. My mental state is a lot more stable."

Eating plan:

Laff is continuing the Atkins diet plan - she admits to being a carnivore. "I'd eat steak three times a day if I could."

But she has added Atkins-approved snacks, even low-carb ice cream, one of her favorite desserts.

She says she remains phobic about weight gain. "But I love eating like this. It's totally fine with me."

"And until they took the tumor out, I didn't realize how uninterested in men I was," she said. "I'm dating again."

The lesson learned:

"For me, it was a great experience as a doctor, to understand what it's like to have a chronic illness, to feel (horrible), to know that you're actually dying, and there's nothing you can do about it ...

"Patients often say, 'You don't know what it's like.' I know what it's like."

Cushing's syndrome

The National Institutes of Health Web site describes Cushing's syndrome as a condition caused by an overproduction of the hormone cortisol. It results usually from a tumor on the pituitary gland, but 15 percent of cases come from tumors on the adrenal gland.

The condition is considered rare, affecting about six out of every 1 million people. About 70 percent of people with Cushing's syndrome are adults.

The symptoms include a "moon face" (round, red and full), weight gain, "buffalo hump" (a collection of fat between the shoulders), protruding abdomen and thin extremities, thin skin, easy bruising, superficial skin infections such as acne, high blood pressure, weakness, backache, headaches, thirst, mental changes, cessation of menses, and, in men, breast development and impotence.

HOW SHE DID IT

Name: Dr. Stacie Laff
Age: 39
Home: Clayton
Occupation: Pediatrician
What she did: Survived Cushing's syndrome after doctors mistakenly diagnosed her condition for two years.
Quotable: "This has taught me, don't be afraid to stand up for myself. I knew something was wrong, and I should have persisted. And it's taught me to appreciate life; appreciate each day."