How Doctors Solved These 7 Medical Mysteries

Debilitating pain, unbearable noises, constant retching: These patients vowed to go to any lengths to find a cure.

For most of us, an illness or ache of sufficient seriousness means a trip to the doctor, a diagnosis, and eventual treatment and relief. But sometimes symptoms can stump even the best physicians. Those that take longer to diagnose are the diseases doctors are most likely to miss. What these six cases have in common—besides very sick people and many mystified doctors—are the dogged persistence of the patients to get better and the compassionate care of the experts who successfully treated them.

The patient’s story: Tortured by a heartbeat

woman hand on heart chestDaViDa S/Shutterstock

I woke up one morning to get the kids ready for school, and the room was spinning. I kept trying to stand, but I gave up and spent the whole day in bed. For a week, I felt dizzy; then my left ear started to feel odd, so my husband took me to the ER. The doctor did a CAT scan and said maybe I had just a virus when she couldn’t find anything wrong. I kept feeling off, so I went to my regular doctor. She asked me to walk in a straight line—and I couldn’t do it! That worried her, so she sent me to an ear, nose, and throat (ENT) doctor, who discovered I’d lost hearing in both ears. He said the problem might be allergies or my sinuses, and he ordered another CAT scan, which also came back normal, and a balance test, which I passed.

About three months later, I woke up and completely freaked out because I could hear my heart beating in my left ear: boom, boom, boom. From that point on, I heard my heartbeat 24-7. It drowned out regular sounds—I’d have the TV volume all the way up, but my heartbeat still took over. And I started hearing my voice echo in my left ear, like I was in a barrel, so I began talking less. If I ate anything hard, like chips, the chewing sounded like a gun going off next to my ear. I was afraid to leave the house, I lost my appetite, and I cried constantly. I hated that my kids were seeing me like that.

I kept bouncing between my regular doctor, the ENT doctor, and the emergency room, but nobody had any answers. The ER doctors blamed everything on allergies or nerves and gave me anxiety pills and antihistamines. One of the ENT doctors suggested I get hearing aids and buy a white noise machine to drown out my heartbeat. Then, at the end of the month, I had a total mental breakdown. I was screaming, I was crying, I was begging God to help me—it was just horrible.

Four months after my ordeal began, I finally tried a different ENT doctor, who recommended an ear specialist at UCLA. That’s how I found the doctor who changed my life.”

—Karrie Aitken, 46-year-old mother of three from Chatsworth, California

The doctor’s story

Stethoscope

Karrie was fairly debilitated and very depressed; she’d lost a lot of weight. Her hearing loss could have been caused by plenty of common things, but when she said she was dizzy and could hear her heartbeat, I was pretty confident she had a rare condition called superior semicircular canal dehiscence, which occurs when a pore the size of a pinhead forms in the inner ear. It can cause hearing loss, dizziness, and a strange amplification of internal sounds, so patients hear their own heartbeat or digestive noises—some even say they hear their eyes “squeaking” when they look around. The condition was discovered only in the late 1990s.

The CAT scan Karrie brought was poor quality, but we had another one done at UCLA. I showed it to her, pointed to the ear, and said, “Yup, there’s the hole.” Once the diagnosis was confirmed, we scheduled surgery. The procedure involved a neurosurgeon making an incision above the ear, cutting a window in the skull, and pushing the base of the brain out of the way to expose the inner ear. Then I took a tacky substance and gently plugged the hole. The results are pretty immediate, and the surgery is considered a cure.

—Quinton Gopen, MD, assistant professor of head and neck surgery, UCLA School of Medicine

Karrie’s new life

“I remember waking up after the surgery and listening to the machines beeping and the nurses talking and not hearing my heartbeat—and I just cried. I really thought this was a new start for me; my life was back.

I was in the hospital for about four days. I felt light-headed, but that eventually went away. And now I’m awesome. I put on enough weight that I’m telling myself I need to go on a diet! I appreciate everything more and enjoy things again, like swimming and roller-skating with my children. Now my kids say, ‘Mom’s back to normal!'”

The patient’s story: The chronic choke

“One night in March of my sophomore year of high school, I was eating spaghetti when I suddenly couldn’t swallow. Somehow, the food came back up my esophagus and choked me, so I had to run to the bathroom and regurgitate. I tried to eat again, but the same thing kept happening.

Over the next week or so, I ate only small amounts of food—and most of it would come back up. I tried to hide it, but I finally got scared enough to tell my mom, and she took me to our family physician. He had no idea what was going on, so he referred me to a specialist. The rest of that year became a whole big mess of going for every esophageal test you could run. Still, no one knew what this thing was.

I hid what was going on from my friends, but I’m sure they wondered why I went to the bathroom five times a meal. I even had trouble swallowing water. Eventually, my whole diet was just peanut butter and honey sandwiches; for some reason, they were the only thing I could get down. I was six feet tall and dropped to 115 pounds—skin and bones—and I got very depressed.

Normal high school things became impossible. One day, I took a tiny sip of water on my way to class, and as soon as I sat down, I realized I had to throw up. I tried to leave, but my teacher chewed me out, so I just sat there fighting it down. I felt so humiliated and misunderstood. I was in the play Father of the Bride, and show week was horrible: On rehearsal nights, the parents would bring pizza, and I ate so little that some of the cast wondered if I had an eating disorder. I felt like I had no future because I’d always have this problem.

That December, I was sent for a new test called a barium swallow—an X-ray test for which I had to drink a chalky fluid so the doctors could watch it go down and try to see what was wrong. I regurgitated the fluid right away. The doctor told me that’s when he knew “something big” was going on. He said he thought it was a condition called achalasia, a rare swallowing disorder. After all that time without any answers, just to hear a word that described what I had was a relief.

That doctor referred me to the University of Iowa to explore treatment options. They did more tests just to make sure—including a test that required keeping a tube down my throat for 24 hours; it was so unbearable, I ripped it out after five. The doctors there wanted to do a surgery called a Heller myotomy. My mom wanted a second opinion, so she did some research and found a Yahoo! support group for achalasia and got the name of a specialist.”

—Nick Metcalf, 22-year-old student at the University of Iowa

The doctor’s story

“When Nick and his mother came to me, I immediately thought Nick’s symptoms were suggestive of achalasia, which is so rare it affects only about one in 100,000 people. The esophagus loses its ability to squeeze, and the sphincter between the esophagus and the stomach doesn’t open properly when the patient swallows, so food stays in the esophagus, causing patients to regurgitate. I ordered another barium swallow and a test called esophageal manometry (in which a tube placed in the esophagus measures the contractions as the patient swallows) to confirm the diagnosis.

Because we don’t know what causes achalasia, we don’t know how to cure it, but surgery can take care of the symptoms. The Heller myotomy is a laparoscopic procedure in which a surgeon makes five small incisions to access the valve between the esophagus and stomach and open it up (like opening the end of a funnel), which allows food and liquid to descend by gravity. Nick and his mom were smart to find a specialist to do this operation. Because achalasia is so rare, most surgeons may have done only one or two of these procedures in their whole career, but specialists have done hundreds—and the more you practice this operation, the better the results.

The morning after the procedure, I went to Nick’s room and gave him a glass of water to drink. He was tentative, but then I saw sheer surprise in his eyes as he kept drinking and drinking and drinking—that was very gratifying. A young person like Nick might need some additional treatment later on because the symptoms can sometimes recur, so I have him send me e-mails every once in a while to tell me how he’s doing.”

—Marco Patti, MD, professor of surgery and director of the Center for Esophageal Diseases at the University of Chicago

Nick’s new life

“What I told Dr. Patti after the surgery was, ‘Thank you for giving me my life back.’ That was the best way I could put it. If there hadn’t been a treatment for this, I don’t know what I would have done. I got out of the hospital the next day, and the first real food I had was macaroni and cheese. It was awesome!

Now I eat slowly, take a heartburn pill every day, and stay away from certain foods, like rice and bread, that still give me trouble. But if I have any big problems in the future, I have faith that Dr. Patti can fix them. Right now, I’m just grateful to be a young guy living his life again.”

The patient’s story: The suicide disease

“At work, I started noticing these small, dull aches, like a toothache, in the back left side of my mouth. I also started getting headaches that would last only a few seconds. I’d had a root canal following an infection that summer, so when these pains went on for about three weeks, I went back to my dentist. But he couldn’t find anything wrong.

Throughout the fall, the headaches came more often, and my teeth and neck started to hurt—always on the left side. I went back to my dentist; he guessed the problem might be a wisdom tooth, so he extracted my top left one. The week before Christmas, I started getting these incredible episodes of jabbing pain, like someone was stabbing me in the jaw with an ice pick. Two days before Christmas Eve, I got a stab of pain so bad that I passed out. That night, I made an appointment with my family doctor, who checked me for everything, including swine flu. He couldn’t find anything wrong, but when I mentioned the root canal and infection, he prescribed an antibiotic and a painkiller. I remember that night crying hysterically because no one could tell me what was going on.

I have three young kids, but I was barely able to celebrate Christmas that year. I spent the day crying on the couch, but I didn’t want to go to the emergency room on the holiday. When we went to the ER the next morning, the stabbing pain was so intense, I felt like I was being electrocuted every few minutes. My heart was racing, and my blood pressure was through the roof. They tested me for stroke and heart attack and gave me an MRI, a CAT scan, everything—all negative. Four hours later, I was saying to the doctor, ‘You can’t tell me everything’s OK,’ and I showed where the pain was by stretching my hand to cover my left temple, jaw, and the spot under my nose. At that exact moment another doctor was passing by, and when he saw me make that gesture he said, ‘Sweetheart, could you do that again?’ When I did, he said, ‘Have you ever heard of trigeminal neuralgia?’ I said no; I couldn’t even pronounce it. And he asked, ‘Is the pain ever triggered by something like feeling wind on your face?’ and I said, ‘Oh my God, yes!!’ So he recommended a neurologist. To this day, I don’t know who that doctor was, but he saved my life.

I started reading everything I could find online about trigeminal neuralgia, and that’s how I heard about a surgery at Johns Hopkins that could cure it.”

—Diane Hicks, 39-year-old district director for Giant Food Stores and mother of three from Owings, Maryland

The doctor’s story

“By the time Diane saw me, she was desperately looking for lasting relief as well as confirmation that she did have trigeminal neuralgia (TN). Her description—the sharp, stabbing pain, the episodic nature of it, the kinds of triggers—was definitely of the classic symptoms, believed to be caused by an artery pressing against the face’s trigeminal nerve. As that artery pulsates over the years, it wears away the nerve’s insulation (called myelin) until it exposes the nerve endings, resulting in extreme pain.

TN isn’t common, but it’s been known for a long time—it’s mentioned in the novel Moby Dick by its other name, tic douloureux. It’s also been called the suicide disease, because the pain makes some people want to kill themselves. In med school, we get only small excerpts on TN, buried among the many other things that cause facial pain, so it’s understandable that Diane’s doctors had missed it.

I ordered a high-resolution MRI, which indicated Diane’s vessel was compressing the nerve, and I talked with her about a surgical procedure called microvascular decompression, which I typically recommend for younger patients like her because it’s the most durable treatment. We did Diane’s procedure that July, and it involved making an incision behind the ear, opening a small piece of bone, then lifting the artery off the nerve and placing a Teflon cushion between them. Diane’s artery was actually pressing so hard that when I released it, I found it had left a little dent in the nerve. Most patients are groggy after surgery, but I remember Diane opening her eyes and literally crying for joy.”

—Michael Lim, MD, assistant professor of neurosurgery and oncology at Johns Hopkins School of Medicine

Diane’s new life

“I’ll never forget waking up and saying, ‘I can’t believe the pain is gone!’ and Dr. Lim just smiling from ear to ear. I felt like my face was whole again. Dr. Lim said when he opened me up, the vessels were pressing my nerve so badly that they could have been that way for a long time, so I believe the root canal exacerbated the whole thing.

And now, I’m perfect. There was a time I never envisioned myself being able to smile again and enjoy my family. Since the surgery, I’ve started getting really healthy and going to the gym five days a week. I don’t even have to take pain medicine anymore—I’m that cured!”

The curious case of the boy who got sick skiing

“I was working the overnight shift in a remote hospital in the Rocky Mountains. Late in the evening, a young black teenager was brought into the ER. He lived at sea level and had never been in the mountains. After skiing all day, he felt really ill. Everyone assumed it was altitude sickness.

He was sweating and had abdominal pain and nausea. His heart rate was elevated. We sent off his lab work, and his blood sugar came back at almost 600—normal is less than 100. His platelets, necessary for clotting, came in at 10,000; they should have been over 150,000. He was extremely anemic too. I did an ultrasound of his abdomen, and it looked like his belly was full of blood. This wasn’t altitude sickness. And in the short time I’d been trying to figure out what was wrong, he was getting sicker. The friends he was traveling with were terrified, and rightly so.

The mystery was finally solved with an old-fashioned microscope. When we looked at his blood, we saw some sickled red blood cells. That’s how we were able to diagnose sickle cell trait. If you have sickle cell trait—which means you got the sickle cell gene from just one parent instead of two—you have no symptoms at low altitude, but high altitude can sometimes cause the red blood cells to warp into sickle shapes and deprive vital organs of oxygen. This teenager didn’t know he had it, but the effect of the altitude on his blood cells was so extreme that after just a short time in the mountains, his spleen had ruptured when its blood supply had been compromised.

He needed platelets immediately, but we didn’t have enough at the remote hospital. And there was a blizzard, so the medical helicopters couldn’t fly. It was a scary night. We met an ambulance that drove halfway up from the city with blood products and transferred him to the city hospital for emergency surgery. The story has a happy ending: He recovered fully.”

—Travis Stork, MD, cohost of TV’s The Doctors

The curious case of the man with a very unusual boil

“A man in his 20s came into the emergency room with a painful boil in his left armpit that had been getting larger for about three weeks. The abscess didn’t have the usual redness, plus it had been growing for much longer than a typical abscess. When we drained the boil, clear fluid came out instead of pus … and then a bullet poked through!

The man said he’d been shot a few years earlier, but the bullet had gone in near his collarbone. Although the bullet had never been removed, it hadn’t bothered him. Over time, with gravity, the bullet had migrated from the top of the shoulder to the bottom of the armpit. Then the natural movement of his arm rubbed that bump until it finally became irritated. I grabbed some forceps and pulled the bullet out. He took it home!”

—Ryan A. Stanton, MD, director of emergency medicine, University of Kentucky Health Care Good Samaritan Hospital

The curious case of the lady with crazy blood sugar

“When I was just out of training, a woman in her 70s was admitted to our hospital with weakness and very low blood sugar. We gave her IV dextrose (a sugar solution), and she improved. We ran a few tests and asked what medications she was taking; she said only a mild tranquilizer called Xanax for occasional anxiety. We chalked her symptoms up to poor appetite and sent her home.

But within a week she was back in the hospital with exactly the same problem: low blood sugar. This time, we called her husband and asked him to read off all the pills in the medicine cabinet. The answer again was ‘just Xanax.’ We checked her for an insulin-producing tumor. Since these results take a while to come back, we sent her home.

When she returned within a week again, we were a bit exasperated and suspicious—something was definitely fishy. This time, one of our interns asked the patient’s husband to bring in all the pills in their medicine cabinet. He brought us a bag of vitamins and aspirin, as well as the bottle of Xanax.

That’s when we discovered her ‘Xanax’ was actually Micronase, which is a medicine used by diabetics to lower blood sugar! The pharmacy had inadvertently pulled it off the shelf and slapped a Xanax label on it. We notified the pharmacy of the error—a completely isolated fluke—and sent the patient home with a clean bill of health.”

—Louis Rubenstein, MD, medical director of Hospitalist Services at South County Hospital, Wakefield, Rhode Island

The curious case of the boy with strange abdominal pain

“A nine-year-old boy was brought into the emergency department with severe abdominal pains. His parents said that for years their son had been suffering from attacks of pain so extreme he’d double up and scream. Doctors, having ruled out several conditions, suspected metabolic abnormalities, and they put him on medications and a special diet, but nothing worked.

After examining the boy, I leaned back against a big, red resuscitation cart and did something that’s not typical emergency physician behavior: I closed my eyes and just thought. I stayed like that for five minutes, going through all the possibilities. Finally, I opened my eyes and said, ‘I think we need to do a CAT scan—right now.’

Barely 45 minutes later, after I’d bumped the boy ahead of several people to get him in quickly, I got a frantic call from the radiologist. The kid had severe malrotation of his intestines: All the tubing that’s normally held in place by ligaments and tissues was just free-floating, so it could move and twist. This intermittent twisting was obstructing the blood flow to the boy’s intestines, causing his attacks of pain. It’s an emergency situation because if the blood flow is obstructed for too long, part of the intestines could die, and that could be fatal.

We contacted the pediatric surgeon on call, who took him straight to the operating room and tacked it all down—and that’s what finally cured the problem.”

—Kenneth V. Iserson, MD, professor emeritus of emergency medicine at the University of Arizona