Infant diagnosed with two rare diseases that require conflicting diets

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DAUPHIN, Pa. — An 11-month-old is the only individual in the country with these two diseases that require conflicting diets.was born on April 11, 2015. He was only 4 days old when his parents learned that he had a rare condition called Maple Syrup Urine Disease, which requires a special diet, WPIX’s sister station WPMT reports.

While at the Children’s Hospital of Philadelphia, the family learned Johnny also has cystic fibrosis. They also learned that the infant was the only person in the US with these two diseases simultaneously.

CF mostly affects the lungs but also the pancreas, liver, kidneys, and intestine. MSUD affects certain amino acids and cell metabolism.

“The sad part of the CF could shorten his life … It is one of the leading genetic causes of death in the country,” Ashley Bricker, Johnny’s mother, told WPMT. “CF Kids need a high protein, high-fat diet. Johnny can’t have that so we are still in the process of figuring all that out.”

Johnny currently eats fruits and vegetables with oil added in by his parents. He also drinks a special formula mixed with breast milk.

“The likelihood of a child being born with both MSUD and CF is exceedingly rare ­ 1/46,250,000,” a doctor at the Children’s Hospital of Philadelphia told WPMT.

“From a nutritional perspective he will need to balance the diet and metabolic requirements of his MSUD where he has a somewhat restricted diet with the requirement for high calories from a CF perspective,” the doctor said.

In the US, all hospitals are required to screen infants for more than 50 diseases, catching Johnny’s conditions early. The family is thankful for this and they believe Johnny will be able to live a long and happy life.