Living With Conditions Adelaide: Our Rare Unicorn

Our daughter’s life was saved not once, but twice by newborn screening. Adelaide’s first screening was done 38 hours after delivery and indicated she had an abnormal result for blood phenylalanine. Her second newborn screening diagnosed her with classic phenylketonuria and allowed for follow-up treatment of a rare condition called transient tyrosinemia of the newborn. After our initial newborn screenings, our family was in disbelief that nobody had ever heard of PKU. Due to Adelaide’s timely diagnosis, her brain was spared any damage, and with consistent blood monitoring and a strict diet low in protein, Adelaide lives a normal life.  We are incredibly lucky that newborn screening allowed our daughter’s condition to be quickly diagnosed and efficiently treated. She is our rare unicorn and she shines so brightly!

By Kristen Lubliner