PKU Life: Katy’s Story


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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Global Genes Comments

  1. Emele Porter says:

    Breeze was just asking me about what she would be like if I had not found out she had PkU when she was born. I showed her this video about Katy. I think it was surprising to her and made her think about how lucky she is to have been diagnosed at birth, but also that if she does not stay on diet what could still happen to her brain. Thank you to Katy’s parents and Katy for sharing your story. Well done Kevin, another great PKU video!

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