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Mystery Solved: Jim's Story About Disease of Esophagus
Date: 5/11/2015
After living with a rare disease for years, Pennsylvania resident gets a diagnosis, surgery and a better life

Mind over matter. For many people living with a condition called achalasia, like Jim, a Pennsylvania resident, mind over matter became a way of life.

“I started feeling symptoms very consciously in my 20s. I couldn’t swallow. I never felt panicked. I didn’t feel like I was choking. I just felt like there was a blockage somewhere along the line,” he explains.

So Jim found ways to live with it. Pausing while he was eating. Drinking a lot of soda because the carbonation seemed to help.

“I didn’t want to take care of the problem right away,” he says. “I didn’t know what to expect, but I don’t like to take a lot of medications, so I delayed.”

Acha-What?

Achalasia is a relatively rare disease, occurring in only one of 100,000 people. With achalasia, two problems occur: the esophagus fails to propel food down, and the sphincter where the esophagus meets the stomach fails to relax enough to let food through.

In other words, the food takes a long time to move down when swallowing, and then hits a wall at the bottom of the esophagus where it sits and very slowly make its way into the stomach. The result: discomfort, heartburn, even backflow or regurgitation.

The “why” seems to be the more challenging question when it comes to this mysterious disease.

“Achalasia is a slowly progressive disease, which usually presents at a late stage when the condition has developed to its maximum, causing symptoms,” explains Zahid Baig, MD, board certified gastroenterologist.

“It is thought to be an autoimmune disorder in which circulating antibodies degenerate the nerve endings within the wall of the esophagus leading to failure of propulsive movement of the esophagus,” Dr. Baig adds.

Finding the Answers

When Jim brought his symptoms to the attention of his primary care physician, he was referred to Dr. Baig.

“I didn’t know what was going on, and I thought about everything bad in my family history: cancer, diabetes,” he says.

Hearing Jim’s symptoms, Dr. Baig immediately suspected achalasia, so he proceeded to test for it.

“If a patient presents with the symptoms of achalasia, it should raise high suspicion immediately,” explains Dr. Baig.

“Proper testing should be undertaken in a timely fashion, because delay in diagnosis could lead to serious complications, such as pneumonia which could be life threating.”

There are several phases of testing to ensure accurate diagnosis of achalasia. To start, imaging studies like the barium swallow or upper GI series will typically reveal characteristic smooth and symmetric narrowing of the lower esophagus, also referred to as “bird beak” because of its appearance in the image.

Next, an endoscopy is recommended for a clear view of the patient’s anatomy. This will rule out secondary achalasia due to cancer.

Once these tests are completed, achalasia is confirmed by esophageal manometry or motility study of the esophagus.

“In esophageal manometry, a catheter is inserted through the patient’s nose and advanced to the stomach,” Dr. Baig explains. “The patient is advised to swallow and esophageal propulsive waves are recorded. Absence of these waves in addition to a tight lower esophageal sphincter is diagnostic of achalasia.

For Jim, it was a relief and an eye-opening experience to have a diagnosis. Looking back, he suspects his grandfather may have had the same problem. And since his diagnosis, he discovered his cousin is living with it too.

According to Dr. Baig, familial achalasia comprise of about 3 to 5 percent of all cases with a genetic link coming from both the mother’s and the father’s side.

Relief at Last

Treatment of achalasia can vary, but the most successful route for treatment is surgery.

Botulinum toxin (botox) injections of the lower esophageal sphincter are a conservative early treatment for this condition because it relaxes the lower sphincter muscle and allows food to move down. However, this is only a short-term solution for most patients as there is a high incidence of relapse within six to nine months. Eventually surgery is needed to avoid complications of the condition, namely pneumonia.

“Jim had a surgery called Heller myotomy, which is the most definitive treatment for achalasia and results in excellent symptom relief in more than 85 percent of patients,” Dr. Baig says.

Since his surgery, Jim has felt a complete turnaround in his symptoms. Like many who undergo Heller myotomy, Jim experiences occasional acid reflux, or heartburn, but he manages the problem by avoiding certain foods like tomato sauce and pastries, and taking regular reflux medication.

“Eating is more comfortable for me now,” says Jim. “The surgery has helped me with eating, and drinking water. I usually have to rest after I eat for a bit to avoid any reflux, but the goods definitely outweigh the bads.”