Samantha L

At age two, Samantha was severely malnourished with an undiagnosed condition. It took an experienced doctor with keen diagnostic skills to get her back on track.

Not long before her second birthday, Samantha L of Manorville began losing weight. Not just an ounce here or an ounce there, but a dramatic weight loss. So much that her mother Eileen says she began to resemble a famine victim, complete with distended belly. Eileen took her daughter to the pediatrician, who suspected cystic fibrosis.

Blood tests came back negative, however. Two days later, Samantha got worse.

“She was just skin and bones,” says Eileen. “We went back to the doctor, who brought in another physician to consult. Both took one look at Samantha and told me to go immediately to the Emergency Department at Stony Brook University Medical Center.”

At Stony Brook, the L's began working with Anupama Chawla, MD, Associate Professor and Division Chief of Pediatric Gastroenterology. Multiple tests still couldn’t pinpoint the cause of Samantha’s extreme symptoms. To the family’s relief, cancer was ruled out.

Dr. Chalwa ordered a blood test for celiac-an intolerance to gluten-which came back positive. An endoscope revealed that Samantha had no villi in her intestines, which made her unable to catch the nutrients she ingested.

“Dr. Chawla says it was one of the worst cases of celiac she had ever seen-despite the fact that Samantha had no typical symptoms-and she was so malnourished that she was weeks away from death,” explains Eileen.

“I thought that Dr. Chawla was amazing, and if we hadn’t had a doctor like her, it would have taken even longer to diagnose and Samantha would have been that much sicker.”

Eileen has no idea just how fortuitous being referred to Dr. Chawla really was. Celiac is a very difficult disease to diagnose, and often children live for years in pain without anyone being able to discover what is wrong.

Dr. Chawla happens to be one of the few doctors in the region with extensive experience in diagnosing and treating celiac-something that even a few years ago was not on the radar screens of most doctors. In Samantha’s case, Dr. Chawla and her team, including a nutritionist, worked with the L's to educate them on the dietary changes needed to support Samantha’s health.

The team also connected them with community resources, including the Suffolk County Celiacs Support and Awareness Group. Within two weeks of the diagnosis, Samantha was thriving. Today, at age 5, Samantha has met all her growth marks.

The changes have been nothing short of remarkable. “It’s like she is a different child,” says Eileen. “Before, she was clingy and quiet; we just thought it was her temperament. Now she is outgoing and full of energy. I give the credit to Dr. Chawla.”