"You've got to get an MRI," the doctor said.
"Of what?" she asked.
"Your brain."
Maria Rokicki, of Hempfield Township, said she "just about dropped the phone" last summer when she heard her physician's recommendation. She had been feeling awful for about five years, with swelling fingers, sweating spells and growing feet, but she never suspected that something might be wrong inside her skull.
The problem, doctors found, lay in her pituitary gland, a pea-sized organ at the base of the brain. Sometimes called the "master gland," the pituitary releases hormones that affect body parts including the kidneys, skin, reproductive organs and even the brain itself.
Rokicki, 44, was heading for her younger son's kindergarten orientation when she learned that a walnut-sized tumor on her pituitary was elevating her growth hormone levels and wrecking her body. The tumor had created a condition called acromegaly -- a form of gigantism -- that she would have to live with for the rest of her life.
Acromegaly is an uncommon condition that strikes most often in middle age. About three people per million are diagnosed each year, according to the Pituitary Network Association, a nonprofit advocacy group that distributes information and supports research on pituitary disorders.
Minutes after getting the news, Rokicki and her husband, Bob, drove to Maxwell Elementary School for orientation, and she tried to grasp the extent of her illness. Acromegaly can prove fatal if the tumor is not caught early and organs such as the liver and heart enlarge.
"Here I am with a little one going to kindergarten, and I have this brain tumor," Rokicki recalled.
With the support of her husband, she immediately made arrangements for surgery, an endoscopic procedure done through the nose. They told their sons, Joseph and Jonathan, only that she was having nose surgery.
Dr. Joseph Maroon, professor of neurosurgery at the University of Pittsburgh, performed the procedure at UPMC Presbyterian Hospital on Sept. 27, 2004.
The tumor was removed and found to be benign.
That was a relief, Rokicki said -- but not the end of the story.
She knows the tumor can grow back at any time, and that most body disfigurement will not correct itself, even as her growth hormone levels are brought under control. More than six months after her surgery, Rokicki finds it hard to accept her condition.
"People think I should be jumping up and down. And I'm not," she said while sitting in her dining room, which is filled with family antiques. "It continues to affect my whole body."
Rokicki points to her expanded midsection, shows her enlarged hands and feet, and speaks of thickened skin on her legs and arms. No dieting plan can correct the changes.
"I feel uncomfortable in my skin," said Rokicki, a certified teacher who's now a stay-at-home mom.
Cleaning the house and helping her sons with homework can be tough sometimes, she said, because she continues to feel the fatigue associated with acromegaly.
That fatigue, plus some gynecological changes, were the first symptoms to surface, Rokicki said.
Maroon estimates the tumor began to affect her growth hormones at least five years ago.
Bob Rokicki said he knew something was oddly wrong with his wife's health shortly after the birth of their second son, who will be 7 years old this month.
At first he blamed some of the symptoms on his wife's postpartum state, but physical changes continued through the years.
Rokicki talked to doctors, who initially attributed her fatigue and expanding waistline to her age and to perimenopause, a transitional period before menopause when a woman's hormone levels may fluctuate greatly.
But family and friends in her hometown of Coraopolis continued to make comments about her appearance -- how she was "looking different."
"When I would go home, my mother would say, 'Look at your eyes.'"
Maroon said acromegaly is often misdiagnosed.
Many health care providers "don't have the knowledge of what these people look like," said the physician. He sees 15 to 20 cases annually at UPMC, including patients who travel from across the country for surgery in Pittsburgh.
Patients with swollen and numb fingers, Maroon said, have been misdiagnosed with carpal tunnel syndrome and referred to orthopedic surgeons. Those with enlarged jaws and other facial deformities sometimes are referred to plastic surgeons.
The changes caused by acromegaly "occur very insidiously and very slowly," Maroon said, so it would be hard for someone seeing the patient regularly to notice them.
Rokicki finally was diagnosed with the pituitary problem after she "just got so disgusted last year" that she made an appointment with a new family physician.
She told the doctor about her weight gain, her swollen hands and her increasing shoe size. The physician ordered blood work, and it wasn't long before the doctor called Rokicki asking her to have that MRI.
She fears that other women with symptoms like hers also may be misdiagnosed.
"I'm trying to tactfully tell women not to accept an initial diagnosis that relates symptoms to their age and menopause," Rokicki said.
Living with acromegaly is still a struggle. "It's very hard for me to live with these physical changes," she said.
And because the condition is so rare, she has been unable to find a support group or another acromegaly patient in the area to share her frustration.
"As a husband, you do your best to tell her how nice she looks," said Bob Rokicki, who has known his wife since they both were teenagers.
In the six months since her surgery, he said, his wife's nose has become significantly smaller and the soft tissue around her eyes no longer is swollen.
"I think since the surgery she has taken years off her face, appearance-wise," Bob Rokicki said.
Friends say Rokicki looks better now than she did before her 40th birthday.
"Maria is beautiful, not only because her appearance has improved as of late, but because she continues to be a wonderful woman who gives and loves," said one. "Looks can't change what's always been in the heart."
http://pittsburghlive.com/x/tribune-review/health/s_329777.html
