MADISON, Wis. - State Senator Patrick Testin wants Wisconsin hospitals to test newborns for Krabbe disease -- a rare genetic disorder that affects roughly one in 100,000 children -- but his effort is running into roadblocks.
"It’s disappointing," said Testin, a Republican from Stevens Point.
Krabbe is a lysosomal storage disorder passed down through recessive genes, typically by parents who have no idea they are both carriers. The disease is fatal -- often within two years -- unless it's caught at birth and the child receives a bone marrow transplant within the first 30 days alive.
"I would’ve given anything to have had that choice," said Kevin Cushman.
Cushman's son, Collin, died in 2019 -- seven years to the day after his Krabbe diagnosis. Kevin and his wife, Judy, say Collin appeared perfectly normal at birth and didn't begin his physical decline until months later.
"By the time the symptoms show themselves, it’s too late. There’s no hope," Cushman said.
Collin Cushman was diagnosed with Krabbe Disease on January 6, 2012. He died 7 years later, January 6, 2019.
Other states -- including Michigan, Illinois and Indiana -- already test for Krabbe. And twice, the Cushmans have nominated the disease for inclusion in Wisconsin's Newborn Screening program.
"We’re doing this so the next child born in Wisconsin with Krabbe will not have to go through what our son went through," Cushman said.
But in 2015 and again this year, a Wisconsin Department of Health Services (DHS) advisory panel shot the nomination down.
"It's really just the logistical part I'm worried about," said Sheboygan pediatrician Dr. Jeffrey Britton during a subcommittee hearing in 2020.
Britton told his fellow panelists if one of his patients tested positive, he wouldn't know who to call.
"You can call me any time, night or day," said Dr. Joanne Kurtzberg, a pediatric oncologist at Duke University. "I answer the phone."
Dr. Kurtzberg performs the life-saving transplant needed to saves the lives of Krabbe infants.
"Ask your conscience if you’ve made the right decision," she told committee members last year.
In February, DHS officially declined to add Krabbe testing. And last month, Senator Testin responded by introducing a bill that would require hospitals to do the test.
State Senator Tim Carpenter, a Milwaukee Democrat, objected, writing it's "unusual for legislators, without medical expertise, to intervene in the process."
But Senator Testin says it's what DHS did next that could derail the bill.
Last month, the department filed a fiscal estimate with the Senate, claiming Krabbe screening would cost $21 per test or more than $1.3 million per year.
"We do believe it is an overinflated fiscal estimate that they are trying to hide behind," Sen. Testin said.
The $21 per test figure contradicts what the department's own newborn screening expert said just a few months ago.
"We estimate for the screening test part it will be around $4," Dr. Mei Baker with the Wisconsin State Laboratory of Hygiene said to DHS committee panelists considering the Krabbe nomination.
$4 per test would be less than $300,000 a year, not $1.3 million. But in submitting the $21 estimate, it appears DHS virtually copied and pasted the figures it used back in 2015 when a similar bill had been filed.
FOX6's Bryan Polcyn: "Do you think DHS intentionally inflated this estimate to kill the bill?"
"I believe so," Sen. Testin said. "I really do."
We asked DHS for an explanation, but the department did not respond in time for this story.
"I'd pay $400 billion, you know, to have him here," Cushman said.
He intends to keep pushing for Krabbe testing, knowing another child could soon meet Collin's fate.
"We just don’t want this to happen to someone else," Judy Cushman said.
Senate Bill 194 -- also known as "Collin Cushman's Law" -- passed the Senate Health Committee on a 3-2 vote. It has yet to be heard by the full Senate. Meanwhile, Senator Testin says he is working with lawmakers in the Assembly to get the bill a hearing there, too.