Sarah was a “blessing from God,” says her mother, Carrie Kilareski. “She has the biggest smile. She is full of life and joy. She was a healthy baby.”
But soon after her birth in October 2006, that healthy baby began to gag and spit up a lot. Her pediatrician wasn’t too concerned, says Carrie, because Sarah was gaining weight. But at her 12-month well-baby check she dropped from the 60th percentile on her weight growth chart at 6 months to 0 percent. Her mother was stunned: “She was eating, but she was losing weight.”
Over the next three months, Sarah underwent a series of tests and procedures, including endoscopy, at a gastroenterology clinic near her Woodbridge, Va., home. The results? She had reflux. But there had to be more to it than that, Carrie Kilareski thought as she watched her daughter decline in weight and spirit.
“It was heartbreaking to watch your 1-year-old daughter become skin and bones,” she says, “when you knew you were doing everything you could to feed her. The doctors started using words like ‘malnourished’ and ‘failure to thrive.’”
More answers came after a barium swallowing test revealed that Sarah was aspirating thin liquids. A brain MRI ruled out a neurological cause, and Sarah was referred to an ear, nose and throat specialist who concluded, without a bronchoscopy to evaluate the patient's lungs and airways, that Sarah’s swallowing problem was related to a developmental delay. The recommendation? Add starch or gel thickeners to Sarah’s fluids to reduce her risk of aspiration.
Kilareski did just that and Sarah responded well. At 18 months, she was up to the 50 percentile on her weight growth chart. But another swallowing test six months after the first test showed she was still aspirating. Again the ENT suggested a developmental delay. “He said she’ll grow out of it,” says Kilareski. But she didn’t.
“I knew in my heart something was not right,” says Carrie Kilareski. “It was frustrating. Sarah would often get sick with fevers and the doctors didn’t know how to incorporate her aspiration issues into a diagnosis and treatment.”
Kilareski wanted another opinion, but where? Then she learned her family could be covered by the Johns Hopkins US Family Health Plan because her husband was in the Air Force. Serendipitously, about the same time Hopkins Children’s was opening a new clinic for the treatment of so-called aerodigestive diseases – complex conditions like Sarah’s involving the airways and upper digestive tract. Rather than see individual specialists and be passed from one doctor to the next, Sarah would be evaluated and treated by a team of pediatric gastroenterologists, otolaryngologists, pulmonologists and speech-language pathologists who would bring collective insights to bear in the case.
“Without such a clinic, individual specialists order procedures and treat patients often with a lack of coordination and input from other specialists,” says pediatric gastroenterologist Karla Au Yeung. “That can delay the diagnosis because patients are waiting for months to see all of the doctors. But here patients get us all at once all talking at once.”
“We’re all in the same clinic at the same time so we can see and talk about the patient together, and then send a full note to the pediatrician saying what we collectively think needs to happen,” adds pediatric otolaryngologist Margaret Skinner. “A lot of these children have been bounced from doctor to doctor only to be told they need to see four more doctors. That’s a lot to ask.”
To get to the bottom of Sarah’s aspiration reflux problem, Au Yeung used an endoscope to examine her esophagus, and Skinner a bronchoscope to look at her airway around the larynx and voice box. Then they both saw what had been previously missed – a small laryngotracheoesophageal cleft (LTEC), an extremely rare and often easy-to-miss midline opening between the larynx, the trachea and the esophagus. Skinner describes the defect as a notch in the wall between the esophagus and trachea, through which liquids can pass. In severe forms, the notch can extend all the way down to the lungs, making it potentially lethal.
“Small clefts are difficult to diagnose and not something you can see in the office,” says Skinner. “Sometimes you’ll see it in a swallowing study with contrast sneaking through the back wall, but usually you need operative laryngoscopy and bronchoscopy to catch it.”
“With this condition, aspirations can be silent and present with more swallowing problems and later on with pneumonia,” Au Yeung says.
Sarah’s mother was beyond relieved: “For almost two years we had been told by doctors that they did not know and might never know why Sarah was aspirating, so it truly was a surprise to finally get some answers.”
Within two weeks of diagnosis, Skinner repaired the cleft in the operating room, and this past spring Sarah, for the first time, passed a swallowing study. No longer would she need thickeners for her fluids. But, Skinner emphasizes, both the detection and optimal treatment of the disorder would likely not have happened without a consultative approach where specialists focus on complex conditions in an interdependent manner.
“So we’re in this circle where not a single one of us can manage the condition optimally,” says Skinner. “I need the gastroenterologist’s help before I can fix the cleft, and the pulmonologist needs my help before he can improve airway problems. It really is a collaborative effort.”
Kilareski agrees: “The most amazing thing is how they all work together. Anytime they want to do anything they all coordinate, so you truly feel like she’s getting the best care possible. You know she’s in good hands.”
For more information about the Johns Hopkins Aerodigestive Clinic, call Dr. Au Yeung at 410-955-8769 or Dr. Skinner at 410-955-1686.