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Illinois expands newborn screening; 14th state to test for ALD

The Illinois Department of Public Health (IDPH) has introduced a test for all newborns in the state to check for a condition called Adrenoleukodystrophy, or ALD.

ALD is a rare, yet deadly, genetic condition that affects the brain, nervous system and adrenal gland. Newborns with ALD appear healthy at birth only to later regress developmentally. Early detection of ALD in babies can lead to life-saving interventions such as stem cell transplants and adrenal steroid replacement, according to the IDPH. The screening is done on a dried blood spot sample.

Without treatment, seemingly healthy infants will begin to show behavioral problems such as acting withdrawn, having coordination issues, vision issues and difficulty concentrating, according to the IDPH. As the disease spreads throughout the child’s brain, symptoms including seizures, blindness, deafness and progressive dementia may occur.

Typically, the condition worsens leading to a vegetative state and death within two to five years of diagnosis. Males are more at risk for severe symptoms as most female carriers of the disease develop symptoms in adulthood or not at all, according to the IDPH.

The condition affects approximately 1 in 18,000 people and Illinois is also the 14th state in the US to implement ALD testing in newborns.

ALD is the 48th disease all newborns in Illinois are tested for since screenings began in 1965. Screenings are performed 24 to 48 hours after birth for early detection and treatment of potentially disability or life threatening diseases. Each year, more than 700 babies are diagnosed through these screenings, according to the IDPH website.

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