“I don’t know where to go from here,” the doctor said to the 14-year-old girl, Lashay, and her anxious mother. The girl had been in the Intermountain Primary Children’s Hospital in Salt Lake City for nearly a week. Her pediatrician had admitted her there because for the past 2 months the girl had been unable to keep anything she ate or drank in her system. Just about any food or drink, no matter what it was, seemed to come right back minutes or sometimes hours after being consumed. She’d lost nearly 10 pounds. It was strange and terrifying. She had no nausea, no abdominal pain, no diarrhea. She did have a mild headache, and her eyes felt a little sensitive to light. Her mother was worried that her child wasn’t getting enough into her system to keep her alive.
Everything seemed to start just after a family vacation in Costa Rica over Thanksgiving. Lashay and her parents, along with her sister, spent the first day hiking in the beachside forest of Manuel Antonio National Park. They were an active family and spent all their vacations engaged in sports and other activities. Suddenly, a large raccoon ran up the path and threw itself on Lashay’s foot. She screamed, and the raccoon bolted up and took off. The girl’s foot wasn’t bleeding, but her skin was broken by what looked like a scratch or a scrape. There was no puncture wound. They cleaned the area with alcohol and turned their attention to the frightened girl. But she was soon enjoying the rest of their vacation — swimming in the beautiful blue waters of the rivers and the Pacific, white-water rafting, ziplining down forested hills and, of course, more hiking.
The raccoon attack seemed to fade into the background, but it didn’t stay there. When Lashay and her family got home to their small suburban Utah town, both she and her mom came down with some kind of gastrointestinal problem. The mother had diarrhea and a headache. Lashay had a headache, too, along with repeated episodes of vomiting. Over the next several days, the mother got better, but Lashay did not. Suddenly, her mother remembered the raccoon scratch. Why would this nocturnal animal attack her daughter in broad daylight? A single word came to mind: rabies.
She took Lashay to see her pediatrician, who shared her concerns. He instructed her to take the girl to the emergency department. The doctors there would know if Lashay needed the vaccine to prevent rabies.
The doctors in the emergency department at Primary Children’s Hospital agreed that the patient did need shots. They attributed her vomiting to a bug she may have picked up while traveling. They sent off a basic blood test to look for an infection or another cause for her symptoms. When the tests came back normal, the doctors gave her the first shots and sent her home with instructions to come back if her condition worsened. (You can see a note from the first E.D. visit here.)
A week later, Lashay was back in the E.D., not because she was worse, but because she wasn’t any better. She continued to vomit — often several times a day after eating or drinking just about anything. She had no nausea or diarrhea. Indeed she had been constipated for most of the past weeks. Other than the persistent vomiting, she had no symptoms of any illness. Her exam was likewise quite benign.
One concern with vomiting without nausea is that it could be caused by increased pressure in the brain. The E.D. doctor performed a careful neurological exam. It was completely normal. Her abdomen wasn’t tender or distended. She was given some fluids intravenously, and blood was taken. Again, it was all completely normal. So why was she still vomiting? her mother asked. Hard to say, the doctor told her. Could be gastroparesis (a slowing down of the stomach) caused by the virus that she and her mother had when they first got home from vacation. This can last for weeks but should resolve on its own. They gave Lashay some Zofran, an anti-nausea drug, and encouraged her to drink more and follow up with her primary-care doctor. (You can see the note from the second E.D. visit here.)
Lashay’s pediatrician sent her to a neurologist, who also did a careful exam and got an M.R.I. — both were completely normal. The neurologist sent her to an infectious-disease specialist, who sent off blood, stool and urine to look for bugs that could cause this strange and persistent vomiting. It wasn’t giardia, a freshwater parasite that usually causes diarrhea; nor could she find evidence of other parasitic infections. She tested her for helicobacter pylori, a common cause of gastritis and vomiting — negative. It wasn’t celiac disease. She wasn’t pregnant. Her liver, pancreas and kidneys were normal. (You can see the reports of those first outpatient studies here.)
Throughout all of these visits and tests, Lashay continued to vomit several times a day. The infectious-disease specialist was worried that the persistent vomiting was making the girl dehydrated, and she sent her back to Primary Children’s Hospital to expedite the rest of the work-up.
Lashay spent four days in the hospital and got a thorough and thoughtful evaluation. She was seen by a slew of doctors: the infectious-disease specialist who admitted her, a second neurologist, a gastroenterologist and a psychologist. In addition, because Lashay had started to feel dizzy when she stood up, she was seen by a physical therapist as well. The infectious-disease specialist again sent blood and stool to look for additional infections. Again, the results were all normal. A spinal tap was performed and fluid taken; it was normal. The gastroenterologist performed an endoscopy: There were a few white blood cells found at the base of the esophagus — not uncommon in the setting of chronic reflux — but otherwise normal.
By the end of the fourth day, the doctors had found nothing. The pediatric gastroenterologist had made a practice of going each evening to check up on Lashay and review the results of the studies with her and her mom. On their fourth night in the hospital, he sat, as usual, on the bed next to Lashay. But his normally cheerful demeanor was gone. He seemed quieter. He went over Lashay’s time in the hospital and the work-up that had been done so far. None of the tests done by any of the subspecialists had shown anything wrong. He just wasn’t sure what else they could do for the young woman.
Lashay’s mother listened in distress. She felt as if the doctor was giving up on them. If there was nothing else to be done, she wanted to just take her daughter home, she told him. (You can see some of the notes from this first hospital stay here.)
Back at home, Lashay was vomiting 10 to 15 times a day. Her mother decided to take her to the other hospital system in Salt Lake City, the University of Utah Health Medical Center, for a second opinion. The care provider there sent Lashay back to Intermountain Primary Children’s Hospital.
A new team of doctors focused on disorders caused by abnormalities in the GI tract rather than any ongoing pathological process. Most reasonable pathology, they suggested, had been ruled out by the extensive testing done during her first hospital stay and before.
Functional disorders can be triggered by infections or other types of pathology but continue long after the initial event has resolved. The team first thought she might have what is known as cyclic vomiting syndrome (C.V.S.). This is an unusual disorder seen primarily in children when episodes of nausea and vomiting alternate with periods of good health. The episodes of vomiting are often triggered by physical or emotional stressors and have a stereotyped presentation, so that while different children with the disorder might have different ways of being sick, each time an individual child gets sick, the episodes are very similar. The disorder is often associated with migraine headaches. Most children with C.V.S. have a family history of migraines, and up to 75 percent will develop migraines themselves by age 18. C.V.S. is often treated the way migraines are: with daily medications either to prevent the headaches, or those taken once the headache has started, to end it quickly.
The pediatric gastroenterologist agreed that the girl had a functional illness, but he wasn’t convinced it was C.V.S. He observed that the patient did not exhibit the violent retching of vomiting, but instead had a rather effortless and painless regurgitation of food and liquids from the stomach into her mouth. This suggested that Lashay may have something known as rumination syndrome. In this disorder, the muscles in the stomach and esophagus somehow run backward, and recently consumed food or drink travel out of the stomach, up the esophagus and into the mouth. It is either then spit out or swallowed. It is not clear what triggers this phenomenon, but it has been associated with both psychological stimuli, like mood disorders, or physical stimuli, like constipation.
Treatment for rumination syndrome is primarily behavioral. Patients are taught how to identify the abnormal muscle contractions and use deep breathing exercises to inhibit the abnormal backflow. If that doesn’t work, smooth muscle relaxant medications can be used to inhibit the reverse movements. (A test done a few months later, measuring the squeeze of the stomach muscles, seemed to confirm this diagnosis.)
Lashay agreed to try to learn how to use relaxation behaviors to stop the regurgitation. At first it seemed to help a little. She and her family were told that it could take weeks, possibly months for her to recover. And even after recovery, the symptoms can recur, even years later. (You can see the notes from the second hospital stay here.)
After a few days, Lashay was sent home with a medicine to make her food move a little more quickly though her stomach and GI tract and instructions on how to continue to work on the problem. Although Lashay worked with specialists to try to use relaxation techniques to help her keep her food down, she didn’t notice much of a difference, and after a few weeks she stopped using the technique.
Lashay’s mother didn’t fully accept the diagnosis of rumination and kept searching for doctors who could figure out why her daughter couldn’t keep anything down. She took her daughter regularly to get intravenous fluids when she felt that her daughter was dehydrated. The IV fluids were particularly effective in treating the headaches, which were now almost constant. They also helped with her lightheadedness, which had been rare but was now something she had most of the time. A new gastroenterologist tried multiple courses of Flagyl, an antibiotic often used to treat intestinal infections, and that seemed to help. But the benefit disappeared when the antibiotic was stopped, which led that doctor to conclude that her symptoms were probably not caused by an infection.
Finally, Lashay was referred to a doctor who specializes in a disorder known as Postural Orthostatic Tachycardia syndrome or POTS. This is a disorder of the autonomic nervous system — the system in charge of maintaining body functions over which we have little conscious control, like heart rate, blood pressure and digestion.
A common pathological feature of POTS is difficulty getting blood to the brain when going from lying down to standing up. Normally when you stand up, the nervous system immediately implements a series of changes to get blood from the lower body, where it is pulled by gravity, up to the head where it is needed. To do this, nerves tell blood vessels in the legs to squeeze, sending blood upward. At the same time, other nerves tell the heart to beat a little faster to distribute the arriving blood more quickly. These changes are immediate and usually work so quickly that they are not even noticed. But in those with POTS, this system doesn’t work well; it takes blood a long time to get to the brain, and the patient feels lightheaded and often nauseated and can even faint.
This doctor checked Lashay’s blood pressure and heart rate when she was lying down and then after she stood up. In most people, the heart rate might increase and blood pressure might fall, initially but will quickly recover. If someone is dehydrated, her blood pressure will go down, and the heart can race for up to 15 minutes. But in someone with POTS, standing after lying down will cause the heart rate to go up, but the blood pressure will stay the same. In Lashay’s case, the heart rate went up and the blood pressure dropped. The doctor thought she was probably dehydrated and gave her some intravenous fluids. He repeated the test. Again when she stood up, her heart raced and her blood pressure plummeted. Despite that, the doctor thought it was likely that the patient did in fact have POTS.
The treatment for POTS is directed at maintaining blood pressure when standing. To do that, patients are often prescribed a high-salt diet or salt tablets and compression stockings. Exercise is also an important part of treatment. Simply contracting the muscles of the legs will help send blood back from the periphery to the heart and brain. Lashay tried all these treatments, for nearly a year. None seemed to do much good. The only thing that helped was the intravenous fluids she still got regularly. (You can see the initial note from the POTS doctor and the testing for POTS here.)
Lashay saw another doctor in that practice who diagnosed her with something called Mast Cell Activation Syndrome (M.C.A.S.). This is a condition in which mast cells, which control allergic reactions, fire off inappropriately, causing hives and flushing and a drop in blood pressure and sometimes nausea, vomiting and POTS. She was started on strong antihistamines and medications often used to treat asthma — another disease of inappropriate mast cell activation. None of those medications worked, either. (You can see the note from the M.C.A.S. doctor here.)
Lashay is now 17. She’s been going through this for nearly three years. At this point she takes no medicines except a painkiller when her headaches get too severe. She eats small meals and has learned to swallow the food that she regurgitates — a trick that has helped her stop losing weight. She still needs intravenous fluids three or four times a week. She’s trying to get out of bed and exercise at least every couple of days. But she has pains in her neck and back that make any movement difficult. She’s not sure what she has or what to do next.
What do you think is going on here? Do you recognize this condition? Could this be cyclic vomiting or ruminations syndrome? Could it be some type of atypical POTS? Or is it something else altogether? What should Lashay and her doctors look at next?
Enter your comments below, and briefly describe your thinking; how a diagnosis is made is often as revealing as the diagnosis itself. All answers will be reviewed, and the most promising diagnoses will be shared with the patient and her primary-care physician.
I’ll post an update in the coming days.