Charting Pediatrics18 Juni 2024

Detecting Disease Before Symptoms Start

Newborn screening has expanded dramatically over the last decade as our detection methods improved and new treatments became available for rare diseases. One of those rare diseases is adrenoleukodystrophy, otherwise known as ALD. ALD is an example of a rare disease where, thanks to expansions in newborn screenings, we are now able to make a precise genetic diagnosis very early in life and offer therapies far in advance of the onset of symptoms. Early detection and treatment of this can potentially spare a family a lifetime of devastating health impacts. In December 2013, New York became the first state to require newborn screening for ALD. Currently, 43 states and Washington, D.C. are testing babies for ALD.

To help us understand the role of newborn screening, we are joined by Kevin Ess, MD. He is the Ponzio Family Chair of pediatric neurology and is the section head of neurology at Children's Hospital Colorado. He is also a professor of pediatrics at the University of Colorado School of Medicine.

Some highlights from this episode include:  

The pathophysiology of ALD.
The clinical manifestations of ALD that make it the perfect model for newborn screening.
The specifics of diagnosing and treating ALD.
The long-term impact newborn screening can have for the lifetime of children with ALD.

For more information on Children's Colorado, visit: childrenscolorado.org.   

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