Living With Conditions An Early Diagnosis Through Newborn Screening

We got the call when my son was just 3 days old, “Your son has an abnormal newborn screening; we need to see you as soon as possible.” I was terrified. We had a complicated delivery and had just gotten home the night before. I remember waking my husband up and just crying for awhile. We called our parents and began the 2 hour drive to the nearest Children’s Hospital. They believed our son had Isovaleric Acidemia. After 6 long weeks, his diagnosis was confirmed. At first I was terrified, but after finding other families through Facebook, I know that because of his early diagnosis through the help of newborn screening that he had a great chance of living a perfectly healthy and normal life. I will be forever grateful.

By Taylor Burch

Find more information about Isovaleric Acidemia

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