Local care for a rare metabolic condition

mother and baby with pediatric physician

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 Kosair 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 Kosair Children’s Hospital Medical Associates – Shelbyville. The Shelbyville pediatricians’ office is among the many regional offices Kosair 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 Kosair 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 Kosair 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. Kosair 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.”

–Tracy Keller


Expert pediatric care is available near you

When a child is very sick or seriously injured, you know right away to go to Kosair Children’s Hospital or Kosair Children’s Medical Center – Brownsboro. Now, Kosair Children’s Hospital is making it easy for families to know where to bring children for routine well checks and minor illnesses and injuries. Pediatricians with Kosair Children’s Hospital Medical Associates help ensure children have convenient access to high-quality care along with all the resources of Kosair Children’s Hospital and its sister facilities.

When you choose the trusted care of a Kosair Children’s Hospital pediatrician, you know that should your child ever require surgery, hospitalization or care for a complex illness, you’re already connected to the pediatric experts at Kosair Children’s Hospital, where your pediatrician and the hospital’s specialists can coordinate to provide your child with the best possible care. Kosair Children’s Hospital Medical Associates operates 12 pediatric offices in Greater Louisville, including Southern Indiana. Visit KosairChildrensHospital.com/KCHMA to find a location near you.