The Challenge: A 15-year-old gymnast suddenly develops a huge, bloated belly and intractable constipation. Can you figure out what's making her so sick?
Every month, the Diagnosis column of The New York Times Magazine asks Well readers to try their hand at solving a diagnostic riddle. Below you will find the details of a case involving a teenage gymnast who wakes up one morning to find her normally flat, washboard stomach bloated and distended as if she were pregnant. She has terrible diarrhea followed by months of intractable constipation. Test results from the extensive work-up done at three different hospitals can be reviewed. As usual, the first person to figure out the diagnosis gets a signed copy of my book "Every Patient Tells a Story" and the pleasure of figuring out a case that stumped many a specialist.
The Patient's Story:
The teenager was sitting quietly between her parents when Dr. Rayna Grothe entered the exam room. Dr. Grothe, a pediatric gastroenterologist, knew from reviewing the girl's medical records that the girl had been a nationally ranked gymnast just a year ago. Her slender, muscular arms and legs testified to her dedication to her sport. Her belly, however, was huge. It bulged outward from beneath an oversize T-shirt as if she were six or seven months pregnant. She wasn't. And that was why this family had traveled from their home in southern California to the Mayo Clinic in Rochester, Minn. This strange and sudden change in the girl's body had brought her promising career to a halt and her life to a standstill.
There was nothing special about the day all this started just over a year ago, the young woman told the doctor. She got up early, as she always did, around 4:30 and she ran her usual 10 miles. She didn't feel great that day – she felt feverish and her throat hurt, but she didn't let that slow her down. She had breakfast, did a little schoolwork, then headed over to the gym where she worked with her coach on her floor work, the vault and the balance beam – the focus of her years of gymnastics training. (You can see her doing her gymnastics routines in the video, before she got sick.)
She had only been there for about an hour when she had a sudden need to go to the bathroom, something that happened over and over again that morning. She must have gone to the bathroom a dozen times before noon. After a couple of hours she caught a look at herself in the mirror. Her belly, normally flat and ridged with muscles, looked big and round. And it seemed to get worse as the day went on and the diarrhea continued. By the end of the day, the young woman felt completely worn out, feverish and dehydrated. She drank as much as she could and went to bed early.
When she got up the next morning, she still felt feverish, and she still had diarrhea. But what really scared her was that her stomach was now huge. She ran to her parent's room. They were immediately concerned and took her to the local emergency room.
The Doctor's Exam:
The young gymnast was seen in the emergency room and admitted for further assessment. Results from blood tests and X-rays done in the hospital were normal. The doctors she saw in the hospital weren't sure why her belly looked so distended, but they couldn't find anything wrong. There was no obstruction; there was no infection. The bloating and distention would probably just get better on its own, parents and child were told. After 24 hours she was sent home.
And yet, it didn't. The girl's stomach remained painfully distended.
A picture from that time, compared with a shot from her gymnastics routine six months earlier, shows the difference.
And that wasn't all: after the first couple of days of diarrhea, the young woman stopped being able to go to the bathroom at all. Over-the-counter laxatives had no effect.
Searching for Answers:
The girls' parents took her to see her own family doctor; he was stumped. He referred her to a pediatric gastroenterologist. That doctor thought she might have an infection. Earlier that year she had been treated for pneumonia with antibiotics, so she was at risk for an intestinal infection caused by the bacterium Clostridium difficile – better known as C. diff. This bug often takes advantage of the loss of gastrointestinal bacteria killed by antibiotics in order to invade the gut, resulting in a dangerous, sometimes life-threatening infection.
The young woman didn't have the typical symptoms of fever and malaise and hadn't had diarrhea for a couple of weeks, but the set-up was right. The pediatric gastroenterologist prescribed a week of the antibiotic targeted at killing this bug and a gallon of a powerful laxative called GoLytely. The test for C. diff came back negative and the antibiotics were stopped after a couple of days. Still, after the treatment she felt better and her stomach flattened out.
A week later the bloating and constipation were back. Her belly wasn't always this big, but it was always bigger than it should be. And painful. It felt as if she'd swallowed some wild animal and it was trying to scratch its way out. The only way she could only go to the bathroom was by taking large amounts of laxatives.
After a couple of weeks like that, when it seemed clear to the girl and her parents that she wasn't getting better, the three went to the Children's Hospital of Orange County, several towns away. She stayed there for more than a week and had a thorough work-up; it was the first of many.
You can see pertinent results from that hospitalization here.
She was discharged without a diagnosis; without a clue.
A Lost Year:
In the 14 months since that initial hospitalization, she had been in nearly a half dozen hospitals and been through what seemed like a million tests. She'd had X-rays and CT scans, M.R.I.'s and ultrasounds.
You can review many of her test results here.
Despite all the tests and workups and examinations, no one could tell the girl and her parents what was going on. No one seemed to understand why she looked pregnant, or why she could no longer go to the bathroom without megadoses of laxatives. And no one could explain why all this started after a mild gastrointestinal infection.
And right now, she was really tired of being a mystery. She had seen lots of doctors. Her mother listed them on her fingers: they'd seen neurologists, urologists and psychiatrists. She'd been to surgeons, physical therapists, an endocrinologist and a cardiologist. She'd taken weeks of antibiotics. She's spent months on a gluten-free, lactose-free and sugar-free diet. It hadn't helped – though she was still on it.
When none of that helped and all the tests came back normal, some of the doctors began to suspect that there was nothing really wrong. It was all in her head, she was told. She wished she were pregnant, she was told. She was making herself sick, she was told. She took antidepressants, antispasmotics and anxiolytics. None of it helped. The only time her stomach looked anything like what it used to was when she was given anesthesia for a colonoscopy. But the huge, bloated belly came right back as soon as she woke up.
When traditional medicine didn't turn anything up, her parents turned to some of the alternatives. She saw a hypnotist, an acupuncturist and a Chinese medicine doctor. They had no answers either.
Shattered Dreams:
Her illness had taken its toll. Since the age of 7 the young woman had lived and breathed gymnastics. It was the center of her day, and of her life. Now all that was gone. She could no longer do this thing she loved. Her body no longer allowed it. She watched her friends compete on television until she just had to turn it all off.
The low point came just a few weeks before her family brought her to the Mayo Clinic. She was shopping in Forever 21, trying to find something, anything that would fit, and a stranger, this woman she didn't even know, came up to her and confided in a quiet voice that she had been pregnant at age 17 and not to worry that her life was ruined. She wasn't alone.
She thanked the woman for sharing that with her, but once the woman had walked away she couldn't stop crying. She hadn't even kissed a boy – just one more sacrifice for the sport she loved – and now people thought she was pregnant.
A Trip to the Mayo Clinic:
Coming to see Dr. Grothe at the Mayo Clinic seemed like her last chance to figure this out. When Dr. Grothe reviewed the girl's records, before the appointment, she felt that familiar anxiety – so much had already been done, and no answer had been found. What more could she do? In tough cases like this one, Dr. Grothe knew, seeing the patient and hearing her story would be key.
"Please – if you have to – just cut me open and take it all out," the girl pleaded. Tears welled and threatened to spill down her cheeks. Her voice cracked as she continued, "Anything is better than this."
Dr. Grothe shook her head solemnly. "Never. I will stand in front of any doctor who wants to take a knife to you." She wasn't sure what the girl had, but she was certain it wouldn't come to that.
Dr. Grothe knew the patient herself would provide the necessary clues. She wanted to be sure she didn't miss anything and spoke to the patient about her story.
After listening, she had had a few additional questions. Was there any pattern to the change in the size of her abdomen? Did it get bigger as the day went on, or after meals? No, but sometimes it seemed smaller after she'd taken laxatives and gone to the bathroom, the girl told her.
And given how much had been eliminated from her diet, the doctor asked, what was she eating now? She usually skipped breakfast, she reported. Lunch and supper she usually had chicken or eggs. She did drink a lot of diet soda, the girl confessed with a quick look at her parents. Not at home, but when she was out she might have three or four cans in a day.
Dr. Grothe had the young woman change into a gown and examined her carefully. According to her records, the girl had gained 20 plus pounds over the past year but she was still quite thin – except for her distended abdomen. As the teenager moved to the exam table, the doctor noticed that she stood with a swayed back, as a pregnant woman might. But unlike the belly of a mother-to-be, this girl's abdomen was soft. It was tender all over. When she tapped on the smooth round surface, the sound was dull and not, as the doctor had expected, full of air. The rest of her exam was completely normal.
Listening to the patient tell her story and examining the girl had told Dr. Grothe a lot, and she now had a pretty good idea what was going on. Do you?
Post your responses in the comments. I'll post the correct answer Friday afternoon.
Rules and Regulations: Post your questions and diagnosis in the comments section. The correct answer will appear Friday on Well. The winner will be contacted. Reader comments may also appear in a coming issue of The New York Times Magazine.
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