The Short of It
Pennsylvania parents struggle to know what to do for their baby who has two rare diseases that require conflicting diets.
It's hard enough to find out your child has one rare disease. But the Bricker family found out their now 11-month-old son, Johnny, had two rare health conditions during a routine infant health screening at the hospital right after his birth.
Johnny suffers from Maple Syrup Urine Disease and cystic fibrosis, and he's believed to be the only person in the U.S. to have both conditions simultaneously.
"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 incredibly told WPMT.
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Cystic fibrosis mostly affects the lungs but also the pancreas, liver, kidneys, and intestines, while MSUD affects certain amino acids and cell metabolism. The problem is that while CF requires a high-protein, high-fat diet, Johnny is unable to have that because of his MSUD.
"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 explained.
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The biggest challenge is that these two conditions have never had to be managed at the same time before, so doctors are learning as they go with Johnny. His present diet consists of a lot of fruits and veggies with oil added and a combination of breast milk and special formula.
Johnny's mom says the newborn screening is a blessing because it caught her baby's diseases early so they could start to treat him. She also says her son's condition, "has made us appreciate the smaller things. When he eats a new food, it's the biggest accomplishment in the world."
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As for the little guy's future, a lot is unknown. He may eventually require a liver transplant, and his CF may also shorten his lifespan. "There's no one to compare him to," says his mom.
I can't imagine how scary this situation must be for this baby's parents. But their attitude about it is truly inspiring. They say they take it day by day and no longer take much for granted. The Brickers believe with medical advancements and their faith, their son has a bright future ahead.