Newborn health screening updates considered

The Health and Human Services Committee heard combined testimony Feb. 2 on two bills that would change provisions related to infant health screenings in Nebraska.

Sen. Robert Hilkemann

LB91, sponsored by Omaha Sen. Robert Hilkemann, would update the definition of metabolic diseases and define pharmaceutically manufactured foods as those that are chemically synthesized or processed for the treatment of inborn errors in metabolism.

The bill also would raise the maximum fee that can be charged by the state Department of Health and Human Services to administer the newborn screening program. The fee, currently capped at $10, could be raised to $20 under the bill.

LB401, also sponsored by Hilkemann, would add X-linked adrenoleukodystrophy (X-ALD), mucopolysaccharidosis type 1 (MPS-1) and Pompe disease to the list of diseases screened for by the state’s screening program.

Hilkemann said a federal panel and the Nebraska Newborn Screening Advisory Committee both have recommended adding the diseases to the 29 for which newborns currently are tested. All the diseases have devastating symptoms that can be lessened through early diagnosis and treatment, he said.

“All of the parents who came here today with their children are not here because their children can be cured,” Hilkemann said. “They came here to testify so that other parents don’t have to live with what they have.”

Ashley Springer, a nurse whose 2-year-old daughter has Pompe disease, testified in support of LB401. She said her daughter seemed healthy at birth, but as symptoms developed it was discovered at three months that her heart was the size of that of a 10-year-old. A diagnosis of Pompe followed, Springer said, as did breathing tubes, enzyme treatments, surgeries, feeding tubes, a tracheostomy and a port for IV medication.

“Had we known at birth or shortly after birth that she had Pompe disease, we could have avoided [much of the above],” she said. “She would still have Pompe disease, but we would have had a better understanding from the get-go and could have gotten her help as soon as possible.”

No one testified in opposition to the bills and the committee took no immediate action on them.

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