Newborn Screening Saves Lives
September 26, 2022
Emmalyn graced us with her presence 12 years ago at 35 weeks gestation weighing in at 5 lbs, 7 ozs. and 18 inches long. A few days later, we brought our seemingly healthy baby girl home. On our second night at home around 10:30 pm, we received THE devastating phone call that no parent ever wants to get. In an instant, our new baby bliss turned into sheer panic, fear, and grief. That moment, one I will never forget, is when our daughter became a brave and fearless Rare Disease warrior. The next couple weeks were a blur of tears mixed with overwhelming fear, uncertainty, anger, devastation, and immense heartache. After 8 days in the Children’s Hospital, we took our baby girl home with a scary diagnosis of Glutaric Aciduria/Acidemia Type 1 (GA-1). Looking back now, the worst phone call we ever received will also be the best call of our lives in that it was what saved Emmalyn’s life. Without newborn screening and the quick response by her medical team, she would not be here with us today!
For more information regarding newborn screening, please reach out to our RARE Concierge – Patient Services team (fill out the form on the website) or email [email protected].
Author: Shannah Hudson
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