Saturday, June 22, 2013

The Importance of Newborn Screening - It Changed Our Lives.


Did you children have their heels poked at the hospital for newborn screening?

Unless they did it while your baby was in the nursery, chances are you remember the crying, the blood and the Guthrie card. A test we were told, "never comes back positive".  In fact, I have seen several discussions on natural parenting chat boards where parents have talked about "opting out" of this test.

It breaks my heart to read because that little test changed our lives forever.

It is actually mandatory to have your baby tested. Our state tests babies in the hospital, and again before the baby is 15 days old. The heel is pricked and a blood sample is collected on filter paper. That being said, hospitals can't force anyone to have a procedure or test. This simple test is mandated for very good reasons though.

This test can identify rare disorders that cause brain damage or death if not treated early. Each state varies slightly on what they test for. Oregon currently tests for 52 conditions that include blood disorders, endocrine disorders as well as amino acid disorders. Dr. Guthrie began a newborn screening test to identify infants with PKU, Phenylketonuria, as his family was personally touched by mental retardation and every state includes PKU screening as part of the test. The public health program began in the 1960's and has prevented permanent brain damage in countless infants who are able to receive the proper treatment in time.

Yes, brain damage and even death. Those words have hung over me like a dark rain cloud for over 5 years. No, you can't detect any differences from an infant with one of these disorders from other infants. As they grow though the damage is already being done.

Neither my husband nor I had any family history of metabolic disorders or PKU. Through my first pregnancy  I declined extra tests. I mean, we were healthy, right?

You can imagine our shock when my son's newborn screening came back with an abnormality. We were sent to a lab for another blood draw. As we waited, we Googled the possibilities, I cried and worried over my new little baby. I was living through a fog of worry. I remember being told, "they are never positive" and "Maybe it is a false positive". I clung to the hope that people were right.


Both my older children were diagnosed with PKU from the newborn screening test. It is something we live with and not nearly as scary as I originally imagined. We now do weekly blood tests to monitor their blood levels, they eat a special diet and we see a dietitian and specialist who help us manage their condition. The key there is we can manage their PKU. It was diagnosed early and they show no signs of brain damage or developmental delays. If you met them, you would never know they have PKU. That is a win.


What if we had declined the test?

Historically, children with PKU didn't have a long life expectancy. They grew and developed and then regressed. Most ended up in state run hospitals without hope for a normal life. Speech and motor skills were lacking, severe agoraphobia was present. PKU patients were not productive members of society. I have watched footage of an adult with PKU who was not treated. As a Mother it breaks my heart to see what used to be a life sentence.

So beyond the temporary discomfort and hearty cry from your newborn baby, it seems like a small price to pay to ensure your baby is healthy and has the best chance at a productive life.

My newest son just completed his second newborn screening at the doctor's office. The result didn't matter this time around. I already have two children with the condition, but I still waited and held my breath for the results. Since we already know both my husband and I are carriers, we had a 1 in 4 chance of having another baby with PKU.

Elliott's test came back negative last night. Of course, this means a new change in our lifestyle! I have to learn how to introduce an unrestricted diet to a baby. I am sure this will present it's own set of challenges in our family. This time around, I know I am up for whatever comes our way. Motherhood is amazing like that.

My request for you, dear readers, is simple. Please don't decline newborn screening. You never know how it could change your lives. I hope by sharing our story it will put purpose behind that filter paper. It is a simple test that you don't want to miss.

Do you know anyone who has a metabolic, blood or endocrine disorder caught by newborn screening? Do you remember the test?


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