The first sign that something was awry in Katie Rozenas's body was the sweating. She first noticed it in 7th grade, but it grew worse over the next few years. She dealt with it by wearing sweatshirts all the time, even in the summer, to hide the embarrassing rings that appeared under her arms. The sweating got so bad that she had 50 shots of Botox in each armpit, to little effect, to try to staunch the flow.
Things got worse during her junior year, in January 2007, when she noticed that she was putting on weight. It wasn't much at first, a pound or two here and there, but it started to add up. Katie, her family and her pediatrician attributed the weight gain to stress-eating, related to the fact that she was working so hard to get straight A's, taking challenging AP classes and studying for the SATs.
She and her mother, Karen, began walking together—Karen lost 12 pounds, but Katie kept gaining. Her dieting and exercising became more aggressive. "I wouldn't eat anything I wasn't supposed to," says Katie. "I would run on the treadmill for an hour every day. I was lifting weights and doing crunches and leg lifts. I would do up to my [Weight Watchers] points and that was it. Then I'd go for weigh-ins and find out that I'd gained more weight and I'd cry. I thought, What is wrong with me?"
Her physical changes only grew more dramatic. The thick, dark hair on her head started to thin out while, cruelly, it began to sprout on her face and arms. Her once-thin face puffed up. Her menstrual cycle stopped. And, alarmingly, she began to grow a fatty hump on the back of her neck near the base of her skull. It grew so large that she couldn't feel her spine beneath it and began to have neck pain from the strain it was putting on her back.
Inevitably, her classmates and even family members started talking behind her back, saying she was "getting fat" or, worse, that she was pregnant. "People said horrible things that made me cry," says Katie.
It got to the point that the school day became a torture. "It was a struggle to get dressed every day. To go to school every day. To have confidence," she says. "I didn't like to eat in front of people anymore. I didn't like to go places. I didn't like to have my picture taken. I'd always hold my hand in front of my face."
The stoppage of Katie's period brought her to her gynecologist, who thought Katie might have polycystic ovary syndrome, a hormonal problem that can cause infertility. So she referred Katie to an endocrinologist in the hope of finally finding the cause of Katie's mysterious physical changes.
The results of blood and urine tests revealed the answer: Cushing's disease, a rare hormonal condition caused by a small benign (non-cancerous) tumor on the pituitary gland. It's so rare—only one in 10 million children are thought to have it—that when Katie and Karen encountered other endocrinologists in the elevator leaving her doctor's office, they asked to examine Katie on the spot. "They said many endocrinologists go their entire careers without seeing a single case," says Karen.
Katie was quickly referred to Children's Hospital Boston neurosurgeon Ed Smith, MD, to have the tumor removed. His first step was to confirm the diagnosis using an MRI.
"These tumors are usually incredibly tiny, a couple millimeters (mm) or smaller," says Smith. "Until the last couple years, we couldn't even see them on MRI."
Despite their small size, they wreak havoc on the body's endocrine system, causing the adrenal glands, which are near the kidneys, to make too much of the "stress hormone" cortisol. Too much cortisol can, in turn, increase blood pressure, blood sugar and abdominal fat and reduce the body's immune response. People who get Cushing's are at risk for osteoporosis (weak and brittle bones) or even death from heart disease. But too little cortisol can be life-threatening, so surgeons have to be extremely careful when removing the tumor so they do as little damage to the pituitary as possible.
Fortunately, they've developed a technique called transsphenoidal surgery, which allows them to minimize the challenges of the operation. In this operation, the thing that makes Cushing's tumors so hard to remove—their location deep in the middle of the brain—is actually a benefit, because the pituitary is next to the sphenoid sinus, which is directly behind the nose.
"We go through the nose or up under the top lip, through the sphenoid sinus and directly to the pituitary," says Smith. This avoids a craniotomy, where surgeons must remove part of the skull, he explains.
Besides the new surgical technique, Smith has two other powerful tools at his disposal: frameless stereotaxy, which is, in Smith's words, "a GPS device" that lets surgeons know exactly where the surgeons are in the brain; and Ed Laws, MD, who has done more transsphenoidal surgeries than anyone else in the world. Laws is director of the Neuro-Endocrine/Pituitary Program at Brigham and Women's Hospital, but assists with cases at Children's that require his expertise.
Everything came together to try to stop Katie's steep physical and psychological slide. In less than a year, she had put on 75 pounds and felt alienated from all but her closest friends at school. Even extended family members seemed not to understand the challenges she was facing.
"After I found out that I had Cushing's, I'd work it into conversations all the time," says Katie, who's now 17. "I'd say, 'I have a brain tumor. You didn't know? That's what made me put on all the weight.' I said it in school, out of school. Anyone I talked to I'd try to work it in. I'd tell big mouths so they'd spread the word around."
Despite finally knowing what was causing her health problems—and being able to tell others—the months between Katie's diagnosis and surgery were nearly as stressful as the months prior. "No one knew it, but I was deathly afraid," says Katie. "I trusted Dr. Smith. I trusted Dr. Laws. But I just didn't know if that was the last time I would see my parents."
At the same time, Katie's parents were fighting their own secret fight. "My husband and I would go into the bathroom and cry because we never wanted to show her we were scared," says Karen. "It's hell knowing your child is having brain surgery."
In the end, Smith and Laws removed the tumor easily and cleanly; it was a mere 4.5 mm. "It's amazing that something the size of a grain of rice can add all that weight and cause premature death," says Smith. "But if you take out that tiny tumor, you can cure them for life."
Immediately after surgery, Katie's cortisol levels plummeted to near-normal levels, which meant her body was already trying to regain its balance. And she went home only five days after surgery.
Today, Katie has lost more than half of the 75 pounds she put on during her ordeal, the hair on her arms and face is gone, the hair on her head is thickening, her face has thinned significantly, her period has returned and the hump is shrinking. There are only three physical signs left over from Katie's battle with her body, and you're not likely to see any of them. The first is called diabetes insipidus, a common side effect of the surgery; the second is a tiny scar on her stomach where Smith had to take a piece of fat from her stomach to close up the hole in Katie's sinus; the third is stretch marks from the rapid weight gain, which won't go away.
There's a fourth mark left by the experience, and if you look closely, you'll see it. It's the mark of a child who's had to grow up too fast and to realize that loving and protective parents can't always keep bad things at bay.
"I had to mature really fast," says Katie. "The doctors would come in and I'd have to talk to them. My mom couldn't tell them how I felt. I had to be a grown-up. I've seen how quickly life can change. And how quickly life can change you."