THURSDAY, June 22, 2023 (American Heart Association News) — Seeing Shelby Lombardo’s white blood cell counts periodically spike, her pediatrician thought the then-4-year-old had leukemia. But a test for the disease came back negative.

Other doctors didn’t know what was wrong with Lombardo. So, they sent her home with antibiotics without a definitive diagnosis.

Lombardo’s mother, Misty McDougal, knew something was at the root of the problems. Something was making Lombardo sick far too often. She took her daughter to another pediatrician in their Chattanooga, Tennessee, area.

Listening to Lombardo’s heart, the doctor said he heard a possible murmur. Thinking the child was just nervous, he told McDougal to bring her back in two weeks.

The doctor detected the heart abnormality again at the follow-up visit, so he recommended that Lombardo get checked out by a cardiologist.

The specialist told McDougal he’d never seen anything quite this bad: Lombardo had a congenital heart defect that caused a rare mitral valve cleft and several large holes in her heart.

“As a mom, it was the most heart-wrenching thing I had ever gone through,” McDougal said. “You’re looking at your child and you’re thinking she’s just absolutely perfect. … She’s your heart and soul.”

Around her fifth birthday, Lombardo had open-heart surgery to repair the valve and the three holes.

About 18 months later, the first grader was getting ready for school when the left side of her body went numb. Unsure what was happening, McDougal carried her daughter into the pediatrician’s office. The girl turned out to be having a stroke, and she spent several days in the hospital.

Doctors later found that Lombardo has a genetic blood-clotting disorder that likely caused the stroke; her mother and brother have the disorder, too. Months of physical therapy helped her make a full recovery.

Still, for about an entire year of childhood she missed out on playground activities. She also grew up knowing her heart problems made her different from her classmates; she lacked the carefree joy of being a kid.

“I had to sit inside or on the sidewalk,” Lombardo recalled. “There were so many things that I had to be cautious about at a young age. You have to grow up really quickly.”

At 12, Lombardo got a clean bill of health from her cardiologist. She’s now 24, married and living in Jasper, Tennessee. She sees a cardiologist annually and eats a heart-healthy diet with limited fat. She remains active, including taking walks with her dogs: Opal, a Chihuahua and dachshund mix, and Scotty, a terrier.

Lombardo recently shared her story at an American Heart Association event. Her message is rooted in her mother’s quest for a correct diagnosis, as she encourages everyone to thoroughly investigate any concerns they have about their health.

“I think the biggest takeaway is to, yes, listen to your body, but also get second opinions,” Lombardo said. “If you think something’s wrong, there’s a chance that it could be.

“You shouldn’t have any doubts when it comes to your health,” she said. “Especially women. We put everyone else first.”

McDougal advises parents to trust their gut and keep pursuing answers about their child’s health if they’re concerned about the quality of care they’re getting.

“Had I not continued down that path, my daughter could have died,” McDougal said.

American Heart Association News covers heart and brain health. Not all views expressed in this story reflect the official position of the American Heart Association. Copyright is owned or held by the American Heart Association, Inc., and all rights are reserved.

By Kellie B. Gormly, American Heart Association News

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