Local News

Parents' Persistence Helps Doctors Diagnose Son's Rare Disease

Posted Updated
Switch to classic wral.com

HOLLY SPRINGS — Nothing looks outwardly special about Joshua Holdner, except maybe his sweet smile. The fact that he is alive makes him extraordinary.

"He stopped eating and he was bleeding and throwing up and was getting worse," says Teri Holdner.

Holdner says her son Joshua was sick right after he was born and repeatedly took him to the doctor.

"I called the pediatrician, I was there every other day saying something is wrong," she says.

Joshua never got better. The doctors began to think maybe his health problems were caused by his own mother..

Despite what the doctors said, Holdner says her mother's instinct told her something was wrong.

"If they just listened to me, then he might, you know, wouldn't of had to suffer so much," she says.

Against her doctors wishes, Holdner took Joshua to Duke University Medical Center.

"If I would have given in and said 'OK, let's wait another month,' we would have lost him," she says.

After a new round of blood tests, doctors discovered Joshua had a rare genetic disease, called


, a week before his first birthday.

Tryosinemia is an enzyme deficiency which results in a toxin build up and liver failure. Only one in 100,000 children get the disorder and both parents must have the recessive gene to pass it on. Most children die from it before they are 10 years old.

In healthy children, toxin levels are about 15; Joshua's levels were nearly a million. He is now being treated with an experimental drug called NTBC, which is a plant herbicide. His health has completely turned around.

"He was a different child, he was actually smiling and not so irritable and doing very well. And he's only shown progress since then," says Dr. Priya Kishnani, director of the Duke Metabolic Clinic.

Joshua is on a very strict low protein diet, and everything has to be measured. Holdner has to make sure he gets enough calories and the right amount of protein each day.Too much of either can be deadly, while too little will cause his body to feed off of itself.

Holdner says it is all worth it every time she sees her happy, smiling, energetic son.

"Dr. Kishnani told me that there's a very good chance, a very good chance, in Joshua's lifetime that they will find a cure and that's our goal. That's my goal. I have something to do," she says.

Joshua's parents are trying to raise $35,000 to fund a research grant on tyrosinemia.

Visit their Web site

to learn how you can help.