Alabama screening newborns for two additional genetic disorders

Huntsville, Ala. Alabama Department of Health now screens newborns for two additional genetic disorders: X-ALD and ADA-SCID.

X-ALD is a rare genetic disorder affecting men in which certain fats are not broken down in the body, causing health problems such as damage to the nervous system and adrenal glands.

ADA-SCID is a genetic disorder in which a person lacks all immune defenses against bacteria, viruses, and fungi.

Alabama Department of Health Chief Medical Officer Dr. Karen Landers said early detection is important for children and their families.

“It’s critical that these conditions are caught early in infancy so that any interventions that can help improve the quality of life for children can be implemented,” Landers said.

These babies appear healthy at birth, but later in life, their disorders lead to health problems and even early death.

Meagan Cochran, with clinical data at Hudson Alpha, said these screenings can save children’s lives.

“The way someone is diagnosed with these conditions is they’re born, everything will be fine early on, and at some point they’ll experience symptoms that start them on what we call a diagnostic odyssey,” he said. Cochran. .

The diagnostic odyssey is a long period in which the patient must visit numerous doctors and specialists and undergo dozens of tests to diagnose the condition.

Two new shows can save families from a period of uncertainty and instead give their children healing.

“It’s very important for these families. It’s very important for that child, and it’s important that there’s any medical intervention,” Landers said. “We definitely want every child in Alabama to have the best chance at life.”

These two additional screenings now add to the list of more than 30 basic conditions for which newborns are screened in Alabama.

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