Great Health Divide | Conditions ID’d by newborn screenings vary by location

COLUMBIA, Ky. (WKYT) - When Bella Streeval was born, her parents, Sarah and Keith, had no reason to know that cytomegalovirus was not on Kentucky’s newborn screening panel.

But they soon found out.

“Grieving while your child is still alive feels wrong, but it’s very real,” Sarah Streeval told InvestigateTV reporter Joce Sterman. “Because with each diagnosis or with each failed medication, with each failed surgery, we knew that time was getting shorter and shorter.”

[What is CMV?]

While Bella was not diagnosed with CMV through the typical newborn screening - the heel-prick test - that every baby gets, she was diagnosed after being taken later to the neonatal intensive care unit at a different hospital.

It ended up being a tough - and far too short - life for the young girl, who was non-mobile, non-verbal, legally blind and deaf and who also experienced seizures.

For three years, she was her family’s superhero.

“You just take it one day at a time,” Keith Streeval said, “and keep moving forward.”

After Bella’s death in 2020, her Adair County family began lobbying for a state law in her memory to create targeted CMV screening for newborns who are symptomatic.

Newborn screening saves thousands of lives every year, but where a newborn is born plays a role in whether certain potentially deadly disorders will be caught, InvestigateTV found. Experts say there is no reason that geography should be a death sentence.

[MORE via InvestigateTV | Death by ZIP Code: How state borders dictate critical screening for newborns]

The Recommended Uniform Screening Panel, a national guideline for newborn screening, contains a list of 37 disorders for which the U.S. Secretary of Health and Human Services recommends babies be screened.

No state tests for all of them.

States range from 29 (Hawaii) to 36 (Illinois and Missouri) RUSP conditions tested for on their screening panels.

Kentucky tests for 35 conditions listed on the RUSP. It does not screen for Guanidinoacetate methyltransferase deficiency or Mucopolysaccharidosis type II.

About 12,500 newborns each year (about one in 300 babies) are diagnosed with one of the core conditions caught through newborn screening. The tests look for conditions that might not be obvious at birth, but that can have devastating or deadly consequences.

Yet screening remains anything but uniform.

“I would say that it’s my intent and the intent, I believe, of everyone on the committee that all of the recommended conditions be implemented in every state,” Dr. Ned Calonge, chair of the Advisory Committee on Heritable Disorders in Newborns and Children, told InvestigateTV. “It’s how to get there that becomes more difficult.”

[Learn more about newborn screening in Kentucky.]

Many states require tests that are not on the federal list, but the mandates are not always based on impact.

InvestigateTV found that 16 states and Washington D.C. test for a condition that has only two known cases. On the other hand, an estimated 20,000 babies are born with CMV each year. Right now, only one state - Minnesota - tests every baby for it, although a handful of others, like Kentucky, conduct targeted screening for it.

Kentucky currently tests for a total of 59 different conditions. Some are recognizable, while others are more rare.

• 2-methyl-3-hydroxybutyric aciduria
• 2-methylbutyryl-CoA dehydrogenase deficiency
• 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylglutaconic aciduria
• Argininemia
• Argininosuccinic acidemia
• Beta-ketothiolase deficiency
• Biotinidase deficiency
• Carnitine acylcarnitine translocase deficiency
• Carnitine palmitoyl transferase deficiency, type I
• Carnitine palmitoyl transferase deficiency, type II
• Carnitine uptake deficiency
• Citrullinemia type I
• Citrullinemia type II
• Congenital adrenal hyperplasia
• Congenital hypothyroidism
• Critical congenital heart disease
• Cystic fibrosis
• Ethylmalonic encephalopathy
• Galactosemia
• Glutaric acidemia type I
• Glutaric acidemia type II
• Hearing loss
• Hemoglobinopathies variant disorders
• Homocystinuria
• Hypermethioninemia
• Hyperphenylalaninemia
• Isobutyryl-CoA dehydrogenase deficiency
• Isovaleric acidemia
• Krabbe
• Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• Malonic acidemia
• Maple syrup urine disease
• Medium chain acyl-CoA dehydrogenase deficiency
• Methylglutaric aciduria
• Methylmalonic acidemia (cobalamin disorders)
• Methylmalonic acidemia mutase deficiency
• Methylmalonic acidemia with homocystinuria
• Mucopolysaccharidosis type I
• Multiple carboxylase deficiency
• Non-ketotic hyperglycinemia
• Ornithine transcarbamylase deficiency
• Phenylketonuria
• Pompe
• Propionic acidemia
• Severe combined immunodeficiency
• Short-chain acyl-CoA dehydrogenase deficiency
• Sickle cell disease
• Sickle cell hemoglobin C disease
• Sickle cell S beta thalassemia
• Sickle cell trait
• Spinal muscular atrophy
• Trifunctional protein deficiency
• Tyrosinemia type I
• Tyrosinemia type II
• Tyrosinemia type III
• Various hemoglobinopathies
• Very long-chain acyl-CoA deficiency
• X-Adrenoleukodystrophy

Bella’s Bill became law in 2022. Governor Andy Beshear signed it, flanked by her family, at an emotional ceremony on the second anniversary of Bella’s death.

[MORE via WBKO | Loss to law: Adair Co. mother raises awareness for virus that took young daughter’s life]

And while they acknowledge that targeted screening is an encouraging start, the Streevals are hoping for universal screening, which would mean that every newborn in Kentucky would be tested for CMV.

“They took that power out of our hands [by not testing] and then they hand us a child that’s affected by these things,” Sarah Streeval said. “And we’re the ones who have to take her home and take care of her. We’re the ones that have to watch her deteriorate and then pass away. And I don’t think that’s fair. I truly don’t.”

The Streevals also want CMV added to the RUSP.

“We kind of feel like that RUSP is out there and it’s kind of the magical ending, but we don’t have a clue when that’s going to happen,” Streeval said. “And so we fight on a state level until we can get there.

“We don’t know if that will ever come or how long it will take,” she added. “And we can’t wait.”

Correction: A previous version of this story incorrectly listed Connecticut, not Minnesota, as the only state with universal CMV screening.

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