Common GI Symptoms, Rare Condition: AJ’s Journey from Acid Reflux to Achalasia at Arkansas Children’s

Aaron "AJ" Robinson was at his grandmother's, eating pizza, when he felt severe pain in his chest. The antacids prescribed to the 12-year-old for acid reflux didn't ease the pain, prompting a trip to the Arkansas Children's Hospital (ACH) emergency room. Results from an X-ray hinted at a condition rarely seen in children.

In the months leading up to the ER visit, AJ said it felt "like food was getting stuck, like there was pressure." The discomfort led him to eat less. Still, he stayed active, burning calories faster than he could replace them, by playing basketball, football and drumming. The combination of physical activity with a reduced diet triggered significant weight loss.

AJ’s mom, Allison Rasheed, says, “I was in a panic when he went to the emergency room, because I thought it was as simple as heartburn and a compaction, and now my baby’s going to the ER.”

After examining the X-rays, the APRN caring for AJ at ACH in Little Rock suspected the cause was achalasia. This rare motility disorder weakens the muscles and nerves that allow someone to eat and drink. The APRN contacted John Rosen, M.D., director of the neurogastroenterology and motility program (NGM) at Arkansas Children’s and professor of pediatric gastroenterology at the University of Arkansas for Medical Sciences (UAMS).

In addition to chest pain, AJ had lost over 10 pounds in two months. "That combination of symptoms is not typical in someone AJ's age," Dr. Rosen said. "And the X-ray showed outflow obstruction, meaning things were not leaving the esophagus effectively."

Over the next three days, AJ's care team at ACH ran a series of tests, closely monitoring his diet and condition. AJ's mom tracked the test results with MyChart, the hospital's secure, online patient portal.

"I would look at his MyChart. Everything, for the most part, came out normal," she said. "They had in the notes there were signs of achalasia, which I'd never heard of, never knew anything like that even existed. That's when I started to research." 

What is Esophageal Achalasia?

Achalasia is a rare disorder impacting the GI tract, leaving the muscles and the nerves that control them too weak to move food and liquid through the body effectively. The condition, rare in adults and even more rare in children, brings symptoms like:

• Chest pain
• Difficulty swallowing
• Vomiting undigested food
• Weight loss
• Coughing after eating

Several other conditions, like gastrointestinal reflux disease (GERD) or eosinophilic esophagitis, share many of those symptoms, making diagnosis difficult. 

"The gold standard test to confirm the initial suspicion of achalasia is esophageal manometry," Dr. Rosen says. "A very specific test with a tube in the nose that measures muscle dynamics and pressure in the esophagus and the passage between the esophagus and stomach."

Dr. Rosen and the NGM program are based at Arkansas Children's Northwest (ACNW) in Springdale, Ark. Before asking AJ's family to travel out of Little Rock for the manometry, the ACH team performed an upper endoscopy to rule out other causes for his symptoms. For example, something small could have been accidentally swallowed and stuck in AJ's throat. All signs continued to point to achalasia, so Dr. Rosen met with Allison virtually to explain test results, answer questions and discuss next steps.

A week later, AJ and his mother met Dr. Rosen in person for the esophageal manometry at ACNW. The manometry results confirmed the diagnosis of type 1 achalasia. "AJ met the two main criteria for achalasia, one of the major motor disorders of the esophagus," says Dr. Rosen. "No squeezing of the esophagus muscles, and the muscle that separates the esophagus and the stomach did not relax."

The three most common variants of achalasia are:

• Type I (classic achalasia): The muscles of the esophagus don’t squeeze with enough pressure to push food down toward the stomach, while the opening between the esophagus and the stomach remains mostly closed, causing food to clot, like a traffic jam
• Type II (esophageal compression): Like type I, except the muscles contract more during swallowing
• Type III (spastic achalasia): The muscles in the esophagus spasm uncontrollably instead of passing food and liquid smoothly to the stomach

Achalasia Treatment

The manometry results allowed for a same-day diagnosis, and Dr. Rosen discussed treatment options immediately with the family. In AJ's case, the best options were laparoscopic Heller myotomy or pneumatic balloon dilation.

• Laparoscopic Heller myotomy: A surgeon uses a small incision in a muscle between the esophagus and stomach to help it relax, allowing food to pass more easily.
• Pneumatic balloon dilation: A small balloon is inserted and inflated to stretch the muscle between the esophagus and stomach, creating a wider opening. Patients who undergo balloon dilation often require repeat procedures to maintain results.

After considering all factors, AJ's family chose myotomy and were referred to ACH for surgery close to their home. To help AJ regain weight and support healthy growth, his care team transitioned him to a liquid diet with high-calorie shakes. AJ says he didn't mind the liquid diet, "because I was able to eat ice cream and popsicles."

One month after the visit to ACNW for diagnosis, AJ had regained sufficient weight and was ready for surgery. Sid Dassinger, M.D., a pediatric surgeon and chief of pediatric surgery at Arkansas Children’s and professor of pediatric surgery at UAMS, successfully performed the myotomy. 

Dr. Rosen credits the efficient coordination, communication and teamwork between Arkansas Children's general inpatient pediatrics, GI, surgery, nutrition and child life specialist teams as factors leading to an exceptional outcome for AJ. Initial evaluation, diagnosis and treatment occurred within six weeks.   

AJ's mom, Allison, said the whole family received excellent care. "Everyone made sure my husband, my mom and I were taken care of if we needed anything. A lot of times we stayed [at the hospital] through the day or night. They not only checked on AJ, but they checked on us as well."

AJ is glad to be able to eat solid foods again - macaroni is a favorite. "He eats a lot more than macaroni," his mom says. "He eats pretty much everything," like most growing boys. He's been cleared to play football and basketball again and enjoys drumming, playing video games, and Oreo cookies-and-cream shakes. 

This article has been reviewed for medical accuracy by John Rosen, M.D., director of the neurogastroenterology and motility program (NGM) at Arkansas Children’s.