How Illinois bureaucracy robbed parents of a chance to save their children from a deadly disease – Chicago Tribune

Shah signed the agreement that month. But even then, Krabbe testing didn’t begin.

The following March, Spencer snapped a photo of Kenan at the Shedd Aquarium. Reclined in his wheelchair, Kenan was in front of the giant Caribbean Reef tank, his eyes barely open.

“For six years now, I’ve known him better than anyone, yet his inner life remains a mystery. In most respects, he’s completely dependent,” Spencer wrote on Facebook. “In others, utterly alone.”

That longing to understand her son became overwhelming during the rare moments when Kenan unexpectedly behaved like a typical child. Once, as she leaned in to give Kenan a kiss, his lips closed in what felt like a pucker.

“Maybe the nerves were connecting, and it was intentional, maybe it was an involuntary response to stimuli, or maybe I cut him short of a hard earned swallow,” she wrote. “Whatever the reason, I’ll never forget the feeling. I kiss him all the time, but WE don’t kiss. I hug him all the time, but WE don’t hug. It’s an ache for him as much as for me, Dann and Tamsen.

“Moments like these are emotionally dangerous because they promote this exact thinking, but we have gotten very good at pulling ourselves back, staying in the moment, hovering between wanting and needing.”

The latest holdup in Illinois involves software.

Public Health officials explained to Burton’s subcommittee in April that they were waiting for PerkinElmer, a private contractor, to add Krabbe to the computer program that takes the data from the mass spectrometers, interprets the results and generates reports for pediatricians.

Richard Zimmerman, who is in charge of quality control and regulatory compliance for all state labs, said his department hoped to have everything in place to begin testing Illinois newborns for Krabbe by late summer or early fall of this year.

At a follow-up meeting in June, Zimmerman hedged: “We’re at the mercy of PerkinElmer. Initially they told us that was their timeline. But with any development in algorithms of its computer language, sometimes things take a little longer.”

He assured Spencer, Burton and everyone else on the conference call that “this is a priority.”

“We’re trying to push it along as best we can,” he said.

Just as Spencer feared, at least two more Illinois babies were born with Krabbe after she warned Public Health Director Shah of this danger. Their conditions were not diagnosed until it was too late for a transplant.

Lana Shelton, a North Riverside baby born in July 2016, was diagnosed at Lurie in November, the nerve damage well underway.

Lana’s pediatrician sent her to Lurie neurologists after her parents, Laura and Don Shelton, noticed that Lana at 4 months old wasn’t holding her head up as well as she had been and didn’t smile like other babies her age.

“I just want to see her smile,” Laura Shelton says.

Lana never did. Spasms and breathing trouble repeatedly landed Lana in the intensive care unit over the summer, and she had to get a feeding tube after she lost her ability to nurse.

Hayden Ponce, a Coal Valley, Ill., baby born in January, was diagnosed at Children’s Hospital of Illinois in Peoria in June.

Doctors told her parents, Kilie and Nic Ponce, that Hayden’s breathing was so shallow they feared that if they intubated her for the feeding-tube surgery, she might spend the rest of her life on a ventilator.

Her parents declined and met the hospice team that would see them through the rest of her short life.

The July meeting of Burton’s advisory subcommittee quickly grew tense.

Just a few weeks earlier, Logan Nichols had died of Krabbe at the age of 2. By the time Logan was diagnosed at Lurie earlier this year and became one of Burton’s patients, his disease was in the final stages.

As the conference call began, Logan’s death weighed on the minds of Burton, Spencer and Terry Hammonds, another mom who’d joined the subcommittee. Hammonds’ son, Liam, died of Krabbe in 2001.

Asked about the “late summer/early fall” projection for Krabbe screening, a public health official pushed back the timeline to “sometime in fall.”

Zimmerman, the labs’ regulatory director, was even more vague. “We’re hoping to have everything up and running by the end of the year,” he said.

Hammonds told Zimmerman there had been a recent funeral for an Illinois child who died of Krabbe, a reference to Logan. “Time,” she said, “is of the essence.”

Zimmerman responded, “I can’t give you a definitive time and date. We’re hopeful, and we’re doing our best.”

Burton told the Public Health officials on the conference call that their priorities were “messed up.”

Said Burton, “It’s almost mind-boggling that we’re on a call discussing this in 2017 related to legislation passed in 2007.”

Zimmerman said PerkinElmer, the private contractor whose software needed changing, was busy working on another project for the lab and would focus on Krabbe after that was done.

A colleague of Zimmerman’s explained that if the state put that other project on hold for Krabbe, PerkinElmer would lose six months of its work.

That was the breaking point for Spencer. What was six months of work, she thought, when they had been waiting nearly 10 years for Krabbe testing?

Her voice rose with fury as she addressed the group.

“What if it’s not running by 2017 and we’re looking at 2018?” Spencer asked. “This is what I’ve been hearing about since my son was diagnosed in 2011. It’s been ‘three months,’ ‘six months,’ ’12 months,’ then years.

“It’s infuriating to be told ‘maybe fall, maybe 2017.’ I realize everyone is doing their job, but at what point does someone do something more than their job? That’s my frustration! We’ve had three new diagnoses these past few months.”

Hayden Ponce, the baby who was diagnosed in June, died in her mother’s arms at her home in Coal Valley on Sept. 25. She was 7 months old.

Here’s how Krabbe screening began in two other states.

Kentucky’s governor signed a Krabbe screening law in March 2015. The state contracted with Mayo Clinic to perform all of the tests needed and had its program running by February 2016.

That December, the screening caught a baby boy with Krabbe. As a result, Tygh DeRossett had a transplant when he was 24 days old.

His family actually lives in a small town in Tennessee. His mom, Amanda, chose to give birth at the hospital 12 miles north — across the border in Kentucky.

Had she gone to the hospital 12 miles south of her home, Tygh’s disease would not have been caught because Tennessee wasn’t screening for Krabbe then.

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