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Added by on 2014-04-25

“For Katy” is now free to view thanks to PKULife.tv’s sponsor, PKU Perspectives!

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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13 Comments

  • Beautiful family. Thank you Kevin Alexander for sharing this. X

  • ERRORE1985 2 years ago

    E’ UNA COSA IMPORTANTE!!!!UNA BAMBINA BELLISSIMA…..SIAMO CON VOI!I

  • Marilyn Wheeler 2 years ago

    Issac and Michelle, I’m so proud of you as parents. Hale would also be very proud. You have your grandfathers strength. May God bless your family.

  • Mary Shields 2 years ago

    I loved hearing her sing. Thank you for sharing.

  • This is sooo touching… God bless this family 🙂

  • Michelle 2 years ago

    Newborn Screening is so important to diagnose and begin treatment. If discovered, and treatment is begun early, then the detrimental effects of the potentially devastating disorders can be prevented and the child can achieve their developmental potential and acheive their dreams.

  • Lisa Carey 2 years ago

    Such an amazing story. I was in tears. I myself have PKU. Katy is a beautiful young girl and will keep her in my prayers. Living with PKU is challenge and being in Katy’s situation is so much more of a challenge, but having loving and supporting parents and family is what makes everything more promising. Katy sending you love from another PKUer in New Jersey Xoxo

  • Sharyn M 2 years ago

    OMG How lucky we are to be born in Australia. New born screening occurs on EVERY baby born in Australia – My grand daughter was born perfectly healthy – and just over one week later my son & his partner were called by the hospital.My grand daughter had very high levels and had to be hospitalised with her mum for the next week. She is a beautiful happy healthy 14 month old now, the light of my life. How grateful am I that my son never had to experience the pain that Kevin is going through!!! Our Government also supports his family by paying for her formula and gels……I can only thank the taxpayers of Australia for “truly truly living in “The lucky country”

  • serrou 1 year ago

    L’histoire de Katy est la meme que celle de petit Omar chez qui on vient de diagnostiquer PKU a 9 mois. car au Maroc le depistage n’est pas fais en 2015 , vous imaginez cela!!!!!! le combat des parents de Katy est celui de toutes les familles PKU

  • Kim Davis 1 year ago

    An incredible story of love and hope. It captures so many important insights. I hope it will be widely seen and shared!

  • Ugur Yazgan 1 year ago

    I believe that by recording this journey and sharing with us, you prevented another boy/girl to go through this journey like Katy. Thank you for being so brave. Thank you for changing the world.

  • yasmin magdy 1 year ago

    Amazing ! How to download it ?