Newborn testing for rare disease finally a reality

It’s just one day at a time for Laura Shelton as she watches her nearly 18-month-old daughter struggle to clear her throat or, at times, breathe. There have been a few scares lately for little Lana, who has Krabbe disease, but Shelton and her husband, Don, never lose hope about what another day brings for Lana.

“A strong little fighter, that one,” Laura says about Lana. Krabbe is an inherited disorder that destroys the protective coating of nerve cells in the brain and nervous system. In most cases, babies die by age 2.

“She’s just been through so much. She amazes me every day,” she says.

Newborn testing for Krabbe disease was required statewide in 2007, but never implemented. Shelton spent much of 2017 advocating for those newborn screenings for Krabbe disease. If caught in time, stem cell transplants can change the outcome for kids with Krabbe disease.

“At least (parents) will be given the choice,” she says about families facing the diagnosis. The Sheltons didn’t get that choice.

It wasn’t until the Chicago Tribune this fall shed light on the years of red tape delaying the testing that Illinois state leaders finally took action. After the Tribune article published, Shelton and other families met in Springfield at the Illinois State Capitol for a hearing before the Health Care Availability and Accessibility Committee. Shelton says she found a lot of open arms among other Krabbe disease advocates. “Everyone’s story is so different, but at the same time, we all had the same points that we wanted to get across,” she says.

She’d heard way too many excuses about the delay in testing, she says.

“I don’t want anyone else to endure the pain and struggles you see your child go through. It is just hard to watch your child struggle to breathe and be in pain,” she says. “It’s just hard.”

Despite what she called an extremely long, difficult day, Shelton, who grew up in Forest Park and now lives in North Riverside, says: “They heard us.”

Testing began Dec. 11.

While testing comes too late for Lana, Shelton still hopes for a cure. “I am still trying to be positive. Every day with her is a miracle. She is my miracle.”

How to help

Lana was recently transferred to hospice care, which gives the family more support with frequent nurse visits, house calls from the doctor, equipment and medication. She also gets early intervention therapy.

The second annual Lana Smiles fundraiser is set for 6-10 p.m., Feb. 10 at Healy’s Westside, 7321 Madison St., Forest Park. The admission fee, $50 at the door, includes drinks, appetizers, live entertainment and a silent auction. Proceeds go to ongoing medical costs and supportive care not covered by insurance.

Shelton got only three and a half months of seeing Lana smile before the disease stole it away. “I’d give anything to see that baby smile.”

Her message to all parents: “Just cherish every moment you have with your child, you never know what will happen.”

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