Committee that selects which rare diseases are tested at birth dissolved amid HHS cuts

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Source: WJLA

Committee that selects which rare diseases are tested at birth dissolved amid HHS cuts

Jay Korff
Mon, June 23rd 2025 at 11:53 AM
Updated Mon, June 23rd 2025 at 11:58 AM

WASHINGTON (7News) — Reporter's Notebook: Every year, thousands of infants in America are diagnosed with devastating genetic diseases through newborn screenings. The encouraging news is that many of these conditions come with treatments. That’s thanks to a federal advisory committee whose members have worked for decades to ensure newborns have the best shot at leading a full life. 7News has learned that federal officials recently terminated that committee calling it “unnecessary" as part of government cost-cutting measures. This committee was dissolved only days before members were expected to add two additional rare diseases - metachromatic leukodystrophy (MLD) and Duchenne muscular dystrophy (DMD) - to what's called the Recommended Uniform Screening Panel (RUSP). This newborn screening process allows families to identity and treat a disease before the condition fully manifests itself thereby potentially preventing disability or even death.


Stephen Monaco post-surgery at Children's National. (Photo by Jay Korff/7News)

This is the moment Stephen Monaco has endured time and again in his 27 years. Wheeled into a room at Children’s National, waking up from yet another surgery to fix a body ravaged by a rare disease called Isovaleric acidemia or IVA. In Stephen’s case, a condition that requires round-the-clock care. The injustice here is that it didn’t have to be this way, according to his mother, Jana.

“The consequences of not being screened early are never ending. It’s life long," remarked mother Jana Monaco as she tended to her son bedside at Children's National.

When Stephen was 3-and-a-half years old, his mother said he appeared happy and healthy. But the day after this photo was taken, Stephen fell into a coma. He suffered a severe brain injury due to an undiagnosed metabolic condition that should have been identified the day he was born through a process called newborn screening.

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Read more: https://wjla.com/news/local/newborn-screenings-hhs-us-health-human-services-baby-diseases-tests-birth-metachromatic-leukodystrophy-mld-duchenne-muscular-dystrophy-dnd-recommended-uniform-screening-panel-trump-cuts#