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Illinois newborns being screened for Krabbe disease

3.0 from 18 votes
Friday, December 15, 2017

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For the first time, newborn babies in Illinois are being screened for a rare metabolic disorder known as Krabbe Disease.

"It's a pretty terrible disease," said Dr. Ronald Chediak, a pediatrician at Heartland Regional Medical Center in Marion.

Chediak said babies with Krabbe often appear healthy at birth, but their bodies don't produce an enzyme that breaks down toxins in nerve tissue.

Without that enzyme, the toxins build-up, damaging the central nervous system.

Eventually, the brain is no longer able to effectively communicate with the rest of the body, leading to problems with movement, vision, and speech.

Doctors say it can be fatal.

"They go downhill pretty rapidly. That's why you want to catch it before they have symptoms," said Chediak." Because if we catch it before they have symptoms, we have the possibility of doing a stem cell transplant."

Krabbe only affects one in every 100,000 newborns. Most babies who have it develop symptoms before six months of age.

Symptoms in infants include feeding difficulties, unexplained crying, extreme irritability, fever with no signs of infection, muscle spasms, and vomiting. In older children, symptoms include loss of developmental abilities and seizures.

Chediak says both parents would have to carry a defective gene and both would have to pass that gene to their baby. Even then, there's only a 25 percent chance of the baby getting Krabbe.

"This is a very, very rare disease. Very rare," said Chediak.

It's so rare, Chediak says parents shouldn't even give it a second thought.

"It's not a bad thing to know about the rare ones, but if we think too much on the rare ones, there's so many rare ones out there that just aren't going to happen to anyone we know, we can end up worrying ourselves to death," said Chediak.

The screenings for Krabbe will be carried out using the blood samples doctors already get from newborns.

Illinois lawmakers passed a measure a decade ago, requiring newborns to be screened for Krabbe , but bureaucratic red tape kept the law from being implemented until now.

Author: Brandon Richard
Source: WSIL 3 TV
3.0 from 18 votes
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