4-month-old girl fights rare ‘maple syrup urine’ disease

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INDIANAPOLIS -- With Rare Disease Day approaching, an Indiana family is bringing awareness to their daughter's uncommon condition.

FOX59 in Indianapolis recently told the story of a 4-month-old girl named Symphony.

The girl suffers from Maple Syrup Urine Disease (MSUD), The disease is named for the maple syrup smell of the urine from untreated babies.

According to the U.S. National Library of Medicine, the disease is an inherited disorder in which the body is unable to properly process certain amino acids.

The peculiar urine smell isn't the disorder's only symptom. It is also linked to  poor feeding, vomiting, lack of energy and developmental delay -- and if untreated, it can lead to seizures and even death, according to NLM.

FOX59 reports that only one in 100,000 children is diagnosed with the disease in Symphony's home state of Indiana.

The National Library of Medicine says the disorder affects about 1 in every 185,000 infants worldwide.

“She is a very sick kid with a rare disease," the girl's father, Phil Summers, told the station.

The girl's mother, Stacie Maynard, told FOX59, “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."

Rare Disease Day takes place on the last day of February each year, according to the organization's Web site. The movement was founded in 2008 by the European Organisation for Rare Diseases.

Symphony is current staying at Riley Hospital for Children at IU Health. She needs to gain weight before she can leave the hospital, FOX59 reports.

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1 Comment

  • Melissa Kasnick

    Rare Disease Day is an important day for my family as my 1 year old daughter also suffers from a rare, genetic disease called Phenylketonuria, or PKU. This disease requires a very restrictive diet and medical formula that she will be required to drink for the rest of her life. Her body does not produce the enzymes needed to break down an amino acid found in protein called Phenylalanine. Without the restricted diet and formula, the Phenylalanine levels in her blood would build up and become toxic to her brain, causing brain damage, seizures and more. It would be amazing if WGN could do a story about PKU to raise awareness as Rare Disease Day approaches.

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