UPDATE (March 31, 2015)– Stacie Maynard tells us her daughter, Symphony, passed away Sunday, March 30 at Riley Hospital for Children at IU Health.
INDIANAPOLIS, Ind. (Feb. 23, 2015)-- "National Rare Disease Day" is Saturday, and it's a chance to bring awareness to some of the world's most unique diseases. Maple Syrup Urine Disease (MSUD) is one of them, and an Indiana family wants you to know about it.
"She is a very sick kid with a rare disease. It is genetic," said father Phil Summers.
Four-month-old Symphony suffers from MSUD. The disease is named for the sweet maple syrup smell of the urine from untreated babies.
Only one in 100,000 children in the state of Indiana is diagnosed with the disease.
"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 mother Stacie Maynard.
Symphony's parents found out about MSUD through a newborn screening test.
The test is required in Indiana and checks for 47 conditions, including Maple Syrup Urine Disease, Sickle Cell Anemia and Cystic Fibrosis.
"It involves inability to break down certain amino acids they are part of the protein. This is a disease that requires treatments for life," said Dr. Bryan Hainline, geneticist at Riley Hospital for Children at IU Health.
A newborn screening test is not required in all states. A bill is currently stalled in Congress.
"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," said Stacie Maynard.
Symphony needs to gain weight before she can leave Riley. Even after she leaves, she will always be on a strict diet.
Learn more about Rare Disease Day here.
To support Symphony and her family, follow this link to buy shirts.