Payton was born slightly premature, but thankfully, had no “serious” issues. Even though she had a little jaundice and was small, we were released from the hospital together and headed home. On the way home, our doctor’s office called and asked us to come back to the hospital within the next few hours. We assumed it was because of the jaundice.

My husband, myself, and Payton went back to the doctor and were not too concerned. We became a worried when the doctor came in, closed the door, and started to pull out a packet of papers. She started to tell us about the Newborn Screen that Payton’s test had come back abnormal for Glutaric Aciduria Type 1. She didn’t know much about it and was waiting on a call back from the University’s Children’s Hospital before she could tell us much more.

No one in the clinic had ever heard of it, much less treated it. We were confused and numb. They sent us for blood work and told us to go home, make sure she ate every two hours and hopefully we’d know more soon. Later that evening the doctor called us back as she had gotten a hold of the genetics team at the university’s hospital.  They wanted her admitted to the NICU immediately. So back to the local hospital we went for a few more days of blood work, IV, and monitoring.

Our lives were changed forever. Payton has had more blood draws in a year than I have had in a lifetime, more doctor visits than our entire family combined, and taken medicine I would have a hard time taking. But she is safe and healthy due to the efforts of our doctors, nurses, family members, and friends. Their support and faith has gotten us through these tough times.

We are so grateful for Newborn Screening! Because of the screening including GA-1, Payton has had few delays, and never had a metabolic crises. She is thriving because of early intervention!

2 thoughts on “Newborn Screening Test Allows Payton To Thrive Despite Glutaric Aciduria Type 1”

  1. Hashim says:

    Im from sri lanka. My daughter who is 14 months old is facing the same disorder. Could you please tell me the details of the hospital and the doctor so i can treat my daughter
    My email add is ashthak@hotmail.com

  2. Linda Padavich says:

    My great-grandsons,identical twins were diagnosed with gluteria acideria also, they just turned 8 weeks. So far no treatment has been started even though they saw a genetic doctor,hours from their home. Isn’t this delay something to worry about?? Being identical does that mean the disorder will be the same in each or different?

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