Local care for a rare metabolic condition

Jonathan Linville was diagnosed with a rare metabolic disorder just days after he was born.

Jonathan Linville was diagnosed with a rare metabolic disorder just days after he was born. Worldwide, only about 70 people have been diagnosed with the condition, called glutathione synthetase deficiency with 5-oxoprolinuria. It affects the production of glutathione, an important antioxidant that prevents damage to cells by neutralizing harmful substances that are produced when the body makes energy.

“I was shocked and, of course, upset with his diagnosis,” said Melissha Ellison, Jonathan’s mother. “There are a lot of unknowns with his condition. We just take everything one day at a time.”

Jonathan and his family live in Shelbyville, Ky., about a 45-minute drive from Louisville. He and his parents make monthly trips to Norton Children’s Hospital so Jonathan can see specialists, including a geneticist, hematologist, neonatologist and physical therapist for treatment. Fortunately, the family is able to avoid more frequent trips to the hospital because of the pediatric care available at Norton Children’s Hospital Medical Associates – Shelbyville. The Shelbyville pediatricians’ office is among the many regional offices Norton Children’s Hospital Medical Associates has opened throughout Greater Louisville.

“Management of a condition like this would not be easy without access to a capable facility,” said Angelito Samson, M.D., Jonathan’s pediatrician at Norton Children’s Hospital Medical Associates – Shelbyville.

According to Dr. Samson, families with children who have this metabolic disease must often move closer to a specialized facility like Norton Children’s Hospital. The Shelbyville office brings that care close to home for Jonathan and his family. “We are constantly working with Jonathan’s team in Louisville,” Dr. Samson said. “It is a lot easier to manage his care through the proximity of our facility to him and his family.”

Staying on top of Jonathan’s condition is essential to his health. Melissha said that Jonathan’s doctors want to see him anytime he has a minor health issue in order to prevent a major crisis from forming. Norton Children’s Hospital Medical Associates – Shelbyville allows Jonathan to receive well-supervised care in his hometown that is easily coordinated with his specialists in Louisville.

“Time is essential in Jonathan’s case,” Dr. Samson said. “Our coordinated care is well-managed. We are constantly connected and in direct communication with his other physicians in Louisville so that we provide the best care possible for him while keeping him close to home.”


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