How One Simple Test Saved This Boy’s Life

Shortly after Joshua Holdner was born, he entered into a fight for his life. He had a hard time nursing, and when he did eat, it was quickly followed with spit up and diarrhea.

“He loved yogurt,” his mom, Teri Holdner, says. “But whenever we gave it to him, we’d be ready with a towel because it would come right up.”

Later, when Josh was teething, his mom tried cheese puffs.

“The irony of it all is what I was feeding him was killing him.”

Josh has tyrosinemia type 1, a genetic condition that affects approximately 1 out of 150,000 people. It’s essentially a liver disease that prevents the break down of tyrosine, an amino acid found in proteins.

A year after Josh was born, Duke University Children’s Hospital developed a screening test for tyrosinemia–but obviously that wasn’t available for the Holdners.

“Josh had nine ear infections,” says dad, Mike. “It just seemed like he was never getting better. It seemed like he was getting worse.”

So, his parents did what any parents would do–they took him to pediatrician after pediatrician. It got to the point where the pediatricians stopped being helpful. And that’s when Josh was taken to Duke. There, he saw Dr. Gordon Worley and Dr. Priya Kishnani, a medical geneticist who finally diagnosed him with tyrosinemia.

“If he had gone undiagnosed for any longer, the chances of him developing liver cancer would have been very high,” says Dr. Kishnani.

These days, Josh is an energetic and bright seven-year-old. According to Dr. Kishnani, he’s “a very good role model for other patients.” Josh takes a metabolic formula through a gastrostomy tube to help him absorb the calories he needs to continue growing. He’s also on a very strict vegetarian diet–no meat, milk, eggs, or cheese.

How well Josh does moving forward will depend on how disciplined he and his family are with his treatment program. But thankfully, now that there’s a screening test for tyrosinemia, others born with the condition won’t have to endure the same early trials.

For more on Josh’s story and the medical advancements at Duke, click here.

Do you have an incredible story to share about how you or your child got diagnosed with tyrosinemia? 

Share in a comment below!

James Ernest Cassady

James Ernest Cassady

Though "Ernest" is a family name that's been passed down for generations, James truly earned his middle moniker when, at the age of five, he told his mother that "laughing is stupid unless EVERYBODY is happy." Since then, the serious little bastard has been on a mission to highlight the world's shortcomings (and hopefully correct them). In addition to his volunteer work at hospitals and animal shelters, James also enjoys documentaries and the work of William Faulkner. He is originally from Oklahoma.

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