One in a Million: Groundbreaking Procedure Gives Hope for Rare Disease

Daws is a 20-year-old state champion hockey player and golfer. You would never know that he has achalasia, a rare disease that makes it difficult to swallow food and liquids.

“In 2018, he started to have chest pain and struggled to keep food down,” says his mom, Nikki. “And several times during the holidays, he would come back to the table at family dinners with water eyes and I'd ask if he was OK. He'd say, ‘Yes, mom, I just choked. That choking sensation was the first sign that his esophagus was closing, triggering him to regurgitate."

Concerned that Daws might have a swallowing disorder, Nikki took him to an ear, nose and throat (ENT) specialist who then recommended a swallow study, which showed signs of achalasia. Achalasia occurs when the esophagus — the tube that carries food from your mouth to your stomach — fails to function correctly.

“I Googled achalasia and saw words like rare, one in a million kids, incurable, progressive,” Nikki says. “Everything you don’t want to see in a diagnosis. I was terrified.”

She chose hope over fear. After further testing confirmed that Daws had pediatric-onset achalasia, type 2, requiring surgery, Nikki was determined to find an effective procedure that would give her son the best chance at a normal life.

“I researched around the clock. We needed the best surgical option and the best surgeons with expertise in pediatric achalasia. I wasn’t going to stop until I found it,” she says. “Then I read about the POEM procedure at Children’s National Hospital.”

Doctors perform the peroral endoscopic myotomy (POEM) entirely through the mouth using an endoscope, with no additional incision needed. It’s a far less invasive option and much less traumatic for the child. Although commonly used for adult achalasia cases, POEM is not widely available for children elsewhere because it requires specialized training and practice.

Timothy Kane, MD, chief of General and Thoracic Surgery at Children’s National, and Mikael Petrosyan, MD, MBA, associate chief of that division, perform more of these procedures than any other pediatric surgeons in the United States. Patients who undergo POEM report less pain and often have shorter hospital stays after surgery.

The family traveled from North Dakota to D.C. for the surgery. Dr. Kane and his team made them feel comfortable before they arrived at the hospital. “I felt relief from the first virtual appointment,” Nikki says. “They promised me, without hesitation, that everything would be fine. And I believed them. I knew we were doing the right thing.”

After surgery, Daws spent time with therapy dogs, took in the fresh air and sunshine in the Bunny Melon Healing Garden and received compassionate care from the entire surgery team.

"We had the best experience at the hospital,” Nikki says. “Overwhelmed with gratitude, I thought to myself: this is what healthcare is supposed to look like. This is what it means to have a team that truly cares about their patients.”

Thanks to the POEM procedure, Daws is thriving. At 6 feet 4 inches tall, he is a happy, healthy and active young man. He continues to play hockey and golf, works out daily and eats whatever he wants — a life that might not have been possible without Children’s National.

“When it comes to healthcare, you should always push for the best option, no matter how inconvenient or far away it might be,” Nikki says. “Children’s National raises the bar for pediatric care and their team supports you through the journey — from figuring out the insurance to travel and accommodation arrangements. Dr. Kane and Dr. Petrosyan have an incredible team that ensures the whole family receives the best possible care while navigating this diagnosis. They really are amazing.”