PKU Life: Katy’s Story

January 9, 2015

Katy is seven years old and has Phenylketonuria (PKU), a rare genetic disease in which the body cannot metabolize protein properly. Many in the world who are born with PKU are diagnosed at birth because of newborn screening. They are immediately put on lifelong treatment and are able to live normal, productive lives. Katy was not given that opportunity. She was born in Mexico, and at the time newborn screening was not required. Katy’s parents searched for answers for months after noticing that their daughter was experiencing unusual problems. She was eventually diagnosed with PKU at 13 months of age, but the months without treatment took their toll on her. Seven years later she has severe developmental delays. Katy is unable to share her story with her own words, but her parents speak up for her, to share her story, and to promote newborn screening across the world.

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