Monroe Carell Jr. Children's Hospital at Vanderbilt
Monroe Carell Jr. Children's Hospital at Vanderbilt
Monroe Carell Jr. Children's Hospital at Vanderbilt
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Monroe Carell Jr.
Children's Hospital
at Vanderbilt
2200 Children's Way
Nashville, TN 37232

(615) 936-1000

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Meet Katie

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Katie Roy is doing what an uncle and two aunts were never able to do: live.

In many ways, she is your typical 18-year-old. She's a high school senior who is trying to decide where to go to college. The bubbly, outgoing teen enjoys singing and playing her guitar in front of audiences. Similar to most teens, she hopes one day to meet her idol, Taylor Swift. She hangs out with friends.

But she also is unique.

At 3, she was diagnosed with a rare metabolic disorder called cystinosis, a condition that also claimed the lives of her mother's three siblings in the 1960s. About 2,000 people worldwide are known to have cystinosis, though the numbers may be higher since many people may go undiagnosed or be misdiagnosed.

The metabolic disorder causes crystals of cystine, an amino acid, to build up in the body's organs, including the kidneys, eyes, brain, liver, pancreas, heart and muscles. Most often, the condition attacks the kidneys first. Eventually, cells are damaged and organs start shutting down.

Other complications include muscle wasting, difficulty swallowing, diabetes, hypothyroidism and photophobia.

Katie has been treated for cystinosis at Monroe Carell Jr. Children's Hospital at Vanderbilt since the mid-1990s, when the facility was known as Vanderbilt Children's Hospital. Her physicians at Children's Hospital have been Kathy Jabs, M.D., director of the Division for Pediatric Nephrology, and Tracy Hunley, M.D., a pediatric nephrologist.

"They are a great team, and I have trusted both completely," said Katie's mother, Jenni Kloete. "They are the reason we remain in the Nashville area. I am appreciative of the people at Vanderbilt. We've had nothing but a wonderful experience there. It's our home away from home."

Before Katie was diagnosed, her mother anticipated that a doctor would say that Katie was a type 1 diabetic because of her symptoms: excessive thirst, frequent bathroom use.

The furthest thought from Kloete's mind was the possibility that Katie could have cystinosis. Katie's grandmother suggested it was a possibility.

"To me that was a death sentence, and I wouldn't entertain the thought of that," said Kloete. "I put it out of my mind."

Katie spent much of the first decade of her life sick. By age 8, her kidneys had started to fail, and she had to have peritoneal dialysis.

Kloete gave Katie one of her kidneys in 2002 when Katie was 10. And then she started getting better.

Katie has problems with light sensitivity due to her condition, and often wears sunglasses. She also must take more than 20 medications each day.

But she keeps going, living a life her relatives never had the chance to experience.

"After the transplant she is a different person," Kloete said. "She's leading a different life. She's has more energy to do things she enjoys such as music."

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