PIPER

This story is shared by the family of a child who has MCADD.

Newborn Screening saved Piper's life. It was my second pregnancy and, like my first, it was typical. Her birth was typical. Our hospital stay was typical. Like all other newborns in the state of Arizona, the nurse came in and pricked Piper's heel and took a blood sample. We were expecting normal results just as we had for my first daughter. But one week after Piper was born, our pediatrician called us at home to tell us that there was an abnormality in Piper's Newborn Screening, and there was a possibility that she had Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). She told us that instead of waiting the usual two weeks to redo the blood test (every baby in Arizona has the test repeated at 2 weeks) we were to come in immediately. The news was shocking. After all, my husband and I had never heard of MCADD and never knew of any family history involving MCADD. What did all this mean? We spent days researching and finding out everything we could while we waited for the test results to come back, hoping that the first test was just a false positive, but wanting to be prepared in case it wasn't. The doctor called four days later and told us that Piper did, indeed, have MCADD – a metabolic disorder in which the child has difficulty breaking down stored fat into glucose for the body. We immediately made an appointment with a geneticist and life moved on. Piper was given a supplement to help her move fats in and out of her cells, went to regular appointments with the geneticist, and was put on a strict feeding schedule. We learned that with the right treatment, Piper would live a normal life.

Piper was a healthy baby and had no complications until she was 10 months old. Her first experience being sick was a horrendous stomach virus where she was unable to eat for 2 weeks. While this would be an ordeal for any baby, Piper was at risk because if she went more than 6 hours without eating, her blood sugar would drop quickly and she could go into a coma and possibly die. However, because of her positive Newborn Screening , we knew what precautions to take. Instead of giving her just a saline IV in the ER for dehydration, she also received a 10% glucose drip that prevented her blood sugar from dropping. If we hadn't known about her MCADD, the saline IV would not have been enough to keep Piper from going into a coma and possibly worse.

Instead of grieving that Piper has a metabolic condition that requires us to watch carefully, we choose to celebrate that Newborn Screening detected her MCADD, and that she is still with us living a happy and healthy life.

Written by Julie Turner

If you would like to share your own family's story, please contact us at email@savebabies.org.

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