Our 10-year-old son Sam was always a skinny kid and a picky eater, never enough to cause serious concern. But gradually, things began to darken. Sometimes at family dinners, he would show a pained look, get up from the table and start pacing around. A few times he clutched his chest and began to panic — fear rising in the room — but just as quickly these moments would pass. Perhaps wanting to ignore the signs, my wife and I categorized these episodes as among the many kid behaviors that defy explanation.
But once the daily vomiting started, I hauled Sam to our pediatrician. Sam’s accelerating weight loss was substantial enough to merit a barium swallow X-ray study, “just in case” there were abnormalities in his swallowing function.
We can fix him, she said. Come see us.
I remember that moment vividly — the radiologist gently maneuvering Sam in front of the machine, collecting images, then flashing the bad news to me through a worried glance. Something was very wrong. A terrifying journey was about to begin.
Sam was diagnosed with achalasia, a neurological disorder of the esophagus that essentially causes it to stop working. The squeezing motion of the esophagus that pushes food toward your stomach gradually shuts down, permanently. So does the opening and closing motion of the muscular gateway to the stomach that allows food in and keeps stomach acid out. With achalasia, that gateway eventually slams shut, leading to complete blockage of the esophagus.
Sam’s diagnosis was shocking and deeply upsetting — revealing a future life of eating difficulties. Yet the path forward was initially clear and somewhat hopeful.
The medical goal for a blocked esophagus is to unblock it. Our well-known, local children’s hospital recommended a surgery that would make this possible. We were encouraged to hear that 90 percent of the patients who receive this surgery are “fixed” and see an immediate improvement in life quality.
Unfortunately, Sam’s results landed in the 10 percent camp. Symptoms of total blockage returned within two weeks, stumping his doctors. Soon he was unable to eat anything, regurgitating (usually his own saliva) some 20-30 times a day, every day. Another tortuous hospital stay ensued, producing only vague (and incorrect) theories on why Sam was an outlier.
Sam was so malnourished and unable to eat, his doctors recommended installing a G-tube for guaranteed access to his stomach. After we were discharged from the hospital, I began tube-feeding formula into him around the clock, for months, to regain the 20 percent of his bodyweight he’d already lost. It was the only way he could get nutrition.
Months later, Sam’s condition showed no signs of change. His doctors continued to believe Sam’s esophagus was open, and his symptoms were a mystery. His small body was wearied from the constant retching of never-ending regurgitations, his cheerful personality all but gone.
We made it our personal mission to find experts on pediatric achalasia, believing they must be out there somewhere, even if the condition is rare.
We found them at Boston Children’s Hospital.
We learned Doctors Sam Nurko and Rachel Rosen had reputations for tackling complex pediatric gastrointestinal issues like achalasia. Also, Boston Children’s has a world-class Aerodigestive Program — a multidisciplinary approach to handling tricky problems like achalasia, which can affect airways, swallowing and speech.
Shortly after making contact with the program, Dr. Rosen called me. In one short conversation, I experienced the relief of finally having our questions answered, of being understood.
Dr. Rosen knew from the description of symptoms that Sam’s esophagus was still blocked, and she was confident of the remedy. It’s the kind of confidence that comes from experience: Boston Children’s sees 40-50 kids a year with achalasia (vs. the two to three at most other children’s hospitals). We can fix him, she said. Come see us.
At Boston Children’s, Sam ran through the gauntlet of diagnostic tests. I was amazed at the difference in understanding of Sam’s case compared to our previous experiences. Before, Sam had been labeled as a patient with “unusual and confusing outcomes.” Here, doctors viewed his symptoms as classic, easy to understand and with a clear path forward.
Dr. Nurko performed a dilation with an achalasia balloon, essentially stretching open Sam’s lower esophagus so contents can pass freely into the stomach. The procedure is not easy; there is a significant risk of perforating the esophagus. We took comfort knowing Sam was in extremely capable hands.
When Sam awoke from the procedure, Dr. Nurko was at his bedside. “Drink this Sam, take big sips!” he said, handing him a cup of ginger ale. Sam obeyed, then looked up at me. “Dad, I can feel it going into my stomach!” Hand outstretched in congratulations, Dr. Nurko said to me: “This is a very good sign. You are free to go!”
I was shocked, speechless and emotional. I realized the nightmare was ending. The trajectory of Sam’s life, particularly his childhood, was back on track.
Over his lifetime, Sam will need periodic monitoring of his esophagus and careful management of the reflux issues that all dilated achalasia patients must handle. But this is a new normal we will gladly accept. It is no small victory to be able to enjoy meals again.
Ultimately, ours is a story about the life-changing results of finding the right doctors. We were extremely fortunate. Our gratitude is immeasurable.
Sam continues to thrive. One week after our visit to Boston, he began fifth grade with confidence, strength and a bright outlook for the future.
Learn more about the Boston Children’s Aerodigestive Program.