For Katy

Katy 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 and immediately receive treatment. 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 mysterious symptoms. She was eventually diagnosed with PKU at 13 months of age, but the months without treatment took their toll on her. Katy cannot share her story in her own words, but her parents speak up for her, share her story, and promote newborn screening across the world.

[@FerranReverter-rv9ib]

I have pku

[@kevinalexander_pku]

Hi Ferran! Thanks for sharing!

[@catherinespark]

I have MSUD - very similar metabolic condition. The only thing that differs is that instead of phenylalanine being blocked, it’s the three branched chain amino acids.

[@jazmine266]

@@catherinesparkmy 7 month old was diagnosed when he was 4 days old

[@krouzek47]

Můžu mit otázku kam putují děti o vás ❓ bylo by možné schůzku ❓

[@krouzek47]

Jejinposkytnut jakýsi startdo života, nebo jw v šestnácti pouz stačite před dver0e hurá pomáhat dalším?

[@kevinalexander_pku]

@@krouzek47 Here in the United States, support for PKU depends on what state one lives in. For example, here in Louisiana there is a program to help people receive their PKU "metabolic formula". But in other states that support does not exist, and depends on the quality of private insurance one has. It is something we are trying to change, to ensure that everyone with PKU or similar metabolic disorders has support for their entire lives.