Iowa family raising awareness on baby's rare disease - KWWL - Eastern Iowa Breaking News, Weather, Closings

Iowa family raising awareness on baby's rare disease

Posted: Updated:

An Iowa baby boy is just one of four people in the entire world dealing with a form of a complicated disease.

11-month-old Mason Zabel of Independence was diagnosed with phenylketonuria, or PKU, after his newborn screening. He cannot break down the amino acid in high protein foods like meats, dairy, eggs, fish, and dried beans.

Several mutations can cause the disorder, however Mason is the only reported case in the United States, and one in 4 in the world,  with this specific gene mutation of the disease.

His mother Jessica Zabel says, "If it's left untreated, it (amino acid) could build up in the blood and can cause severe brain damage and seizures."

He is on a strict diet mostly containing fruits, some vegetables and a medicated formula his family calls "magic milk."

His father Tim Zabel says, "Mason gets his blood tested twice a week at home and we weigh out his foods."

There is no cure yet, but the family is hoping to change that by bringing awareness to this very rare disease that affects their baby.

Mason goes down to Iowa City to the University of Iowa Hospitals and Clinics at least once a month for check-ups.

The family is holding a fundraiser tonight until 8 p.m. at  Panera in Waterloo, with all proceeds going to the National PKU Affiliation. 

Powered by Frankly