Being a Parent on the Front Lines of Overcoming Misdiagnosis in Congenital Heart Disease

“Why isn’t this helping her, doctor?” I asked the tired-looking doctor who stood at the foot of my daughter Sammi’s bed. We were at the end of Sammi’s sixth endoscopy that year, and as she dozed off the last of the anesthesia, I looked at my tiny 6-year-old and wondered aloud, again, whether her trouble swallowing and eating had anything to do with the rare cardiac condition she’d had repaired as a baby.

The doctor stood up, stretched and patted my daughter’s leg. “We’ll figure it out. Come see me in clinic in a few weeks.” He left to perform endoscopies on another half-dozen patients, leaving me to continue worrying over my child’s confusing symptoms.

It wasn’t until two years later, when a passing remark from another doctor in the practice made me realize he’d never read her medical chart, that we realized her congenital heart defect had been the problem all along. Symptoms that could describe any number of other conditions — gagging, reflux, picky eating — in her case were the key to a constriction of her esophagus made by, of all things, her aorta. Surgery to move the aorta away from the esophagus turned my daughter from a slow-eating, slow-growing, constantly undernourished kid into a flourishing tween with a ravenous appetite and energy to spare.

This story is not much different from the stories I’ve heard about many other children with similar congenital heart defects. Born with something called a “vascular ring,” these children have arteries in their chests that form a tight band around their windpipes and esophagi. In my experience, because the condition can be repaired by an operation, there is not always follow-up from surgeons and cardiologists after a year or so. Older children with recurring problems can be lost in the shuffle and misdiagnosed for years.

Lorri Mortensen Dean, whose son Brenden wasn’t diagnosed with a vascular ring until he was 11 years old, had been told for years that he had asthma. During a pulmonology study, a doctor observed something no one had noticed before.

“…when given puffs of Albuterol (the drug he had been on since he was a toddler) his levels would become worse. [The doctor] said that’s unusual as Albuterol opens up the airways, but on Brenden it was closing them and making it worse.”

It was that unusual response to Albuterol, a common asthma drug, that encouraged Brenden’s doctor to order further tests. One of them confirmed a vascular ring. Within weeks, Brenden had the surgery he needed to release the ring and begin a life without constriction of his airway.

Brenden’s mother and I have something in common: we both believed that something more was going on with our children than what the doctors who were examining had diagnosed. A nagging feeling kept us both from accepting the finality of our children’s diagnoses, especially when the treatments for those ailments didn’t result in any noticeable improvement for our children. Brenden kept coughing and wheezing. My daughter Sammi struggled to eat anything denser than fruit.

Renee Bergeron’s son Apollo didn’t recover and improve after the surgery to repair his congenital heart defect. She writes on her blog, “We were told this was a one time surgery…but none of it actually worked out that way…I began reading through every page of his medical records and questioning the doctors about his ongoing symptoms.” After watching her toddler son continue to struggle, even with a feeding tube and even after consultation with an otolaryngologist (ENT), her research uncovered the real problem.

“It took…reading medical journals and asking the right questions, to discover the [source of the problem], hidden within his body,” she wrote. Apollo’s initial surgery had missed some important details, and his second surgeon noted that this new surgery would mark the sixth or seventh time he’d “redone” a procedure like Apollo’s. The fact that research done by Renee and her husband was what saved Apollo isn’t ideal, but in an ever-more-connected world, it may become par for the course for parents of medically complicated children to become amateur medical researchers.

These three stories — Sammi’s, Brenden’s and Apollo’s — are among many I’ve encountered as I learned to advocate for my daughter’s health. Parents of other children with vascular rings have told me stories about their babies being misdiagnosed with everything from asthma to reflux to “too much mucus”; of begging doctors to do the tests that finally led to a proper diagnosis; and of being told they were irresponsible for sending their children to daycare.

When a child enters a pulmonology, otolaryngology or gastroenterology practice, these specialists simply may not consider that the child’s early cardiological issues may have implications on other parts of the body. In these cases, it might be up to parents and caregivers to connect the dots for doctors, even if doctors prefer not to listen. I believe the advocacy should start with us.

Congenital Heart Defect Awareness Day is February 14. Forty-thousand babies in the U.S. are born each year with a congenital heart defect, and every one of them will need an adult at their side, pushing for the right treatment.

Editor’s note: Any medical information included is based on a personal experience. For questions or concerns regarding health, please consult a doctor or medical professional.

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