All Posts Newborn Screening and Genetics

What We’re Reading: PKU Awareness Edition

Did you know that May is PKU Awareness Month?  We thought this was a good opportunity to look back on some of the stories of PKU families on our blog.

Faces of PKU: PKU Awareness Month |

Proof of the Value of Newborn Screening at Every Milestone:  If Joe’s dimple doesn’t get you, his mother’s dedication and sincerity certainly will. “It took seeing the milestones, seeing him sitting up and smiling and saying his first words. Every time he did something new, it was an affirmation of the impact of newborn screening and a blessing to me that his PKU was identified. I am truly grateful for that.”

PKU Hasn’t Stopped Elisa From Living Her Dreams: Elisa was born with PKU, but that hasn’t slowed her down one bit!  She has fulfilled all of her goals and has even more on the horizon.  Her mother says, “I realized right away that it didn’t matter what was on the dinner table. It mattered who was around it. This food that she had to eat that was different from our food, it didn’t matter. Dinnertime was fun. It was a wonderful time.”

Kevin Alexander Speaks Out About PKU and Rare Disease Day: For 31 years, Kevin didn’t know anyone else living with PKU.  He decided to put his professional skills to use by telling his story on video, turning Kevin into an immediate advocate.  “Thankfulness has become my lifestyle… Every child born with a rare disease should have the same opportunity at life that I have had.”

Screening Scores Big for These Minnesota Twins: Having twins is overwhelming as is, but twins with PKU…?  This family rose to the challenge and their kids are happy, typical toddlers.  “They turned two in October, and are busy doing all the things a normal two-year-old does! Learning new words, climbing on EVERYTHING, playing with dolls, making sounds for trucks, and giggling at Elmo.”

National PKU Awareness Day: 18 Years After Diagnosis: Their first daughter, Callie, was born with PKU — their second child, a boy, was not.  When she was pregnant with their third, Callie asked for “A baby sister with PKU like me and a yellow (or pink, or green, or…) ribbon in her hair.”  She got her wish.

Raising Baby Caroline: Life With PKU: This family welcomed their perfect baby girl, Caroline in February of 2011.  When the PKU diagnosis came, they were terrified, but eventually settled into their new reality.   “Life is going to be hard for Caroline and she needs to know that… We want her to know that PKU doesn’t define her, but it will always be a part of her.  We intend to raise a strong girl who can handle it.”


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