DAUPHIN, Pa. - On April 11, 2015 Ashley Bricker gave birth to her son Johnny. She and her husband John were thrilled that they now had a boy and a girl. Their daughter Faye is 4. When Johnny was just four days old they got a call saying his infant screening showed he has Maple Syrup Urine Disease. It requires a special diet. While they were at Children's Hospital of Philadelphia they got a second, surprising diagnosis. Johnny also has Cystic Fibrosis.
"They could not find any other person in the United States to have these disease together simultaneously," said Ashley.
The CF impacts his lungs and pancreas.
""The sad part of the CF could shorten his life. There are a lot of advances in gene therapies coming out for CF, but it is one of the leading causes of death in the country. It is one of the leading genetic causes of death in the country," Ashley said.
His MSUD is controlled by diet however his diet for MSUD conflicts with the one for CF.
"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," said Ashley.
For now, he eats a lot of fruits and vegetables. They put oil in all of his food. He drinks a special formula mixed with breast milk.
"I think it has made us appreciate the smaller things. When he eats a new food it is the biggest accomplishment in the world, where as with our daughter it was just normal," added Ashley.
His doctors at CHOP say, " The likelihood of a child being born with both MSUD and CF is exceedingly rare 1/46,250,000. Johnny has unique challenges with his CF beyond the typical therapies to help clear his lungs of the sticky mucus and decrease lung infections. In particular, 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."
Without infant screening they may not have found the diseases. All babies born in hospitals, in America, get infant screenings for more than 50 diseases. Dr. Cheston Berlin, from Penn State Hershey Medical Center, has been involved with infant screenings since they began in the 1960s.
"I think that has been one of the most important medical advances we have had in the 20th and 21st century," he said.
Ashley is so grateful the screenings caught Johnny's diseases early. She and her family take one day at a time and they feel Johnny will be able to live a long and happy life.