Amazing Medical Mysteries… Solved!

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

By Kimberly Hiss from from Reader's Digest Magazine | April 2013

Amazing Medical Mysteries… Solved!Illustration by Jude Buffum
The Patient’s Story: The Chronic Choke
Nick Metcalf, 22-year-old student at the University of Iowa—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.

The Doctor’s Story
Marco Patti, MD, professor of surgery and director of the Center for Esophageal Diseases at the University of Chicago—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.

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.

Next: The patient with the so-called “suicide disease”

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