Newborn In Indiana Diagnosed With A Rare Genetic Disease

Feb. 28 is “National Rare Disease Day” and an infant from Indiana is suffering from a disease that affects 1 in 100,000 children in her state.

Symphony suffers from Maple Syrup Urine Disease (MUSD). Though the name might be innocuous, the genetic disorder can be fatal if untreated. “It involves inability to break down certain amino acids they are part of the protein. This is a disease that requires treatments for life,” Dr. Bryan Hainline, a geneticist at Riley Hospital for Children at IU Health, told Fox59.

Infants may seem healthy at birth, but their urine smells sweet. People with MUSD have to maintain a strict diet for the rest of their life. 

Symphony’s parents discovered she had the disease when she was born, thanks to a genetic screening test. 

“It was a pretty big shock when we were told that, especially when they told us it was genetic. We didn’t know anyone in our families that had it,” said Stacie Maynard, Symphony’s mother.

Phil Summers, Symphony’s father, said, “She is a very sick kid with a rare disease. It is genetic.”

Newborn genetic screening is required in Indiana, but it is not required in every state. Symphony is still hospitalized and she’ll need to gain more weight before she’s allowed to go home. 

“I want people to realize that this disease is out there. It is rare, but it is out there. To raise awareness of the newborn screening and how helpful it is to be diagnosed early on,” Stacie said.

Source: Fox59 Image via Fox59


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