Why the Fuss?: Newborn Screening

What if in the midst of a parent’s worst nightmare you learn that something could have been done? The sick child you’ve brought into this world could have had treatment? Could have been helped? Could have lived?

I’ve talked about it previously, but in honor of September being Newborn Screening Awareness Month, I really wanted to highlight some helpful facts in regards to newborn screening in general.

Newborn screening is considered one of the most revolutionary medical discoveries because of the impact it has made. Before this was a standard practice, many newborns would die of time-critical illnesses because the rare nature of disease and the progressive nature. Medical teams are often stumped in the diagnostic process this early on and by the time it becomes more evident what the disease is, the damage is done.

In the 60’s, a man named Robert Guthrie was accredited with the discovery of newborn screening for PKU using the dried blood spot cards that are collected from a newborn’s heel prick about 24 hrs after birth. This card is sent off and screened for dozens of serious conditions now, though each state varies.

These conditions are typically time sensitive and treatment must start as early as possible to prevent worsening and/or death. Because of how early this screening takes place, the results of newborn screening come early in the child’s life and treatment can be started without delay.

This process saves lives. Without this early knowledge, illness can progress rapidly with irreversible damage. This profoundly impacts the quality of life for the child. The outcomes are drastically improved with newborn screening, saving around 12,300 lives per year in the U.S.

1 out of every 300 births is estimated to be affected by metabolic or endocrine disorders that are detectable via newborn screening. Two seemingly healthy people can and do give birth to a child that is affected by hereditary issues without warning, and newborn screening is the warning these families need for improved outcomes.

I didn’t know how important this was going to be to my family. I didn’t know that this test was a life and death factor for other families. When they stuck my children’s heels in the hospital, my only thoughts on the matter were “Great, one step closer to getting home!” I didn’t know how important it really was.

Every child deserves the same chance at improved outcomes. Check with your state to see where they are falling short and offer a hand in making the change for the future children that will need this screening. It could be your child who benefits from it. Or their child. The chances of someone you care about being affected by these illnesses are better than you think.

Find out how you can help by talking with your states legislators or by visiting https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/nominate




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