Newborn screening: Wisconsin 'falling behind' federal guidelines

MILWAUKEE - The federal government has added a new condition to a recommended list for newborn screening, but it could be years before Wisconsin is ready to begin testing. When it comes to testing for rare, but potentially deadly diseases in newborns, advocates say Wisconsin is falling behind.

In July, U.S. Secretary of Health and Human Services Xavier Beccera made Krabbe disease the 38th condition on the Recommended Uniform Screening Panel - a federal guideline for states that each administer their own newborn screening programs.

Krabbe (pronounced kruh-BAY) is a recessive genetic condition that belongs to a group of disorders called leukodystrophies, which affect the white matter of the brain. The most severe form - infantile Krabbe disease - is fatal unless detected within the first 14 days after birth.

A Wisconsin Rapids family learned that in the hardest way imaginable, as documented in a collection of home videos. 

"Brother, we're almost done shaking!" said a young girl as she tends to her big brother, Collin Cushmann, during a vibration treatment. 

The little girl is Kendra, Collin's younger sister.

"What do you remember about Collin?" asked FOX6 Investigator Bryan Polcyn.

After a long pause, Kendra, now in middle school, answered, "He was the best brother ever." 

Several more seconds pass in silence before Kendra's lips begin to curl and shake. Sitting between her parents, she leans her head into her father's chest and bursts into tears. The family is still coming to grips with what they lost, not to mention the life Collin missed out on.

"Who knows what he could’ve done?" his mother wondered through muffled tears.

Now, there is a test that could save children just like Collin.

"I'm hopeful that it can and will be done for all future Wisconsin babies," said Judy Cushmann.

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For the past nine years, the Cushmann family has been trying to convince the State of Wisconsin to screen newborns for Krabbe disease. 

"Because there will be more kiddos born with this disease," Kevin Cushmann said.

But it's an uphill battle.

Every year, more than 60,000 babies are born across the state. And, short of a parent's religious objection, all of them are tested - by law - for hearing loss, congenital heart defects, and a growing list of rare, but potentially deadly disorders.

"Newborn screening is one of the greatest public health achievements of the last 100 years," said Dr. Robert Steiner, medical director of Wisconsin's newborn screening program.

Drops of blood are extracted, usually from a newborn baby's heel, within the first 48 hours after birth. Nurses and midwives collect those droplets into a series of circles on a test card, which is later shipped to the Wisconsin State Laboratory of Hygiene for analysis. The samples are tested for an ever-growing list of rare disorders, from more well-known conditions such as sickle cell and cystic fibrosis to others with names so long elected officials had trouble sounding them out at a public hearing in February.

"Adreno… ludo…" tries a male staff member of the Senate Health Committee, as Senator Rachel Cabral-Geuvara finishes the word. "…dystrophy." 

There are thousands of rare disorders that scientists have identified, but only a tiny fraction of them are deemed appropriate for screening at birth. They are the conditions that require immediate treatment to prevent severe complications or death.

"We are able to identify children with very serious and in many cases potentially fatal disorders before those disorders start affecting the baby," Dr. Steiner said. "It saves hundreds of lives every year."

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The Cushmanns say it could save even more.

"I don’t want another family to go through what we went through," he said.

When Collin was born in January 2010, he had a pair of defective genes - one from each of his parents.

"We didn’t know we were carriers," Judy Cushmann said. 

Collin appeared perfectly healthy for months, as toxins began to build up in his brain. Those toxins destroyed the nerve fibers in Collin's brain, causing him to progressively lose control of his own body.

By the time doctors diagnosed him with Krabbe disease, it was too late to attempt a bone marrow transplant that could have extended and greatly improved the quality of his life.

"How valuable would that be to you?" asked FOX6 Investigator Bryan Polcyn.
"I said I wasn’t going to cry," Judy Cushmann said, her eyes welling up with tears.

"He could’ve gone to school on a regular basis," Kevin Cushmann said. "He could’ve had friends. He could’ve gone to friends' houses and slept over."

Collin lived eight years, but never spoke a coherent word.

"He could’ve done so much more with his life."

The Cushmanns and their doctor first nominated Krabbe disease for inclusion in Wisconsin's newborn screening program in 2015. Then again in 2020.

Both times, the medical community expressed concerns about the risk of false positives, poor treatment outcomes, and a projected cost of more than 21 dollars per test for a disease so rare, it might affect just one newborn in the state every 3 to 5 years.

When the FOX6 Investigators interviewed Dr. Steiner in 2021, he was not yet ready to endorse the new test.

"In my opinion, we’re not ready to do newborn screening for Krabbe disease in Wisconsin."

Three years later, he says the tests are more accurate. Treatments are improving. And the estimated cost has dropped dramatically. With the recent addition of Pompe disease to Wisconsin's newborn screening program, he says Krabbe could be added at little to no additional cost. 

"The progress is moving very fast," he said. 

But the most significant development happened earlier this year, when a federal advisory committee voted to add Krabbe disease to the Recommended Uniform Screening Panel, or RUSP for short.

"Usually once it's recommended, and it's on the RUSP, states will look at it closer," Judy Cushmann said.

The RUSP is a list of conditions that have been researched and vetted at the federal level and are now recommended for testing by states, which independently manage their own newborn screening programs.

Julie Thiel, supervisor in the Wisconsin Department of Health Services Division of Public Health says the RUSP is just that – a recommendation, not a requirement.

"Even though a condition is added at the national level," she said, "it doesn’t automatically get added at the state level."

"We utilize the RUSP to inform our work," Dr. Steiner said. "That doesn’t mean we rubber stamp their decisions."

Of the 38 conditions now on the RUSP, Wisconsin currently tests for 33. Every other state surrounding Wisconsin tests for more: Michigan, 35; Indiana, 35; Iowa, 35; Minnesota, 36; Illinois, 37.

"We’re behind," said Kimberly Haugstad, President of the Wisconsin Rare Disease Alliance. 

"We have the science here in Wisconsin," she said, "What we don’t have is a good process."

The organization she formed less than a year ago is already pushing to speed up the process for getting new diseases added to the newborn screening program in hopes of catching up with other states.

"Should a newborn’s survival depend on what state they’re born in?" asked Polcyn.
"No," she replied. "It shouldn’t. Not in this country."

Illinois, Indiana and Minnesota already test for Krabbe disease. Iowa recently approved a test, but has yet to put it into action. But so far, Wisconsin has rejected Krabbe testing twice. DHS's Thiel says if advocates want to try again, they'll have to start over from square one.

"Yes," Thiel confirmed. "We would need another nomination to start the process again."

"Why does it need to be nominated again when it’s already been nominated multiple times?" asked Polcyn.

To which Dr. Steiner plainly responded, "That’s just how it works in Wisconsin."

"Which is extremely frustrating," Kevin Cushmann said.

If it's nominated again, Krabbe will have to pass through a three-tiered gauntlet of regulatory committees, then administrative review, and then legislative rulemaking. 

"It's slow and clunky," Haugstad said. 

It's a process DHS says could take at least another two years.

"Do you think this process needs to be streamlined?" Polcyn asked. 

"I think all of us would like to see that time reduced," Dr. Steiner said, "and be able to add conditions more swiftly."

"We need to change the process so we aren’t waiting years and years and years," Haugstad said.

A bill that would've more closely tied Wisconsin's newborn screening program to the RUSP (2023 Senate Bill 962) was introduced by State Senator Barbara Dittrich, an Oconomowoc Republican.

"This should be a no-brainer," Dittrich said.

No one registered to lobby against it, but it failed to advance before the legislative session ended.

In all, 12 states now align their newborn screening regimens with the RUSP, but Wisconsin is not among them. Haugstad insists it's only a matter of time.

"We’re going to change this," she said.

But the Cushmanns say time is of essence. 

"I promised Collin before he passed that we would see this through," Kevin Cushmann said.

With every day that passes, odds increase that another child will be born with a deadly disease that goes undetected simply because he or she was born in the wrong state.

Even though Wisconsin tests for fewer conditions, Dr. Steiner said he believes Wisconsin is "right in line" with other states. Of the five federally recommended conditions that are not part of Wisconsin's official newborn screening list, he says two are already approved and are making their way through the rule-making process; one is part of an ongoing demonstration project; and the other two are expected to receive nominations this year, including Krabbe disease.

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