Illinois becomes first state to screen newborns for rare genetic condition

CHICAGO - Illinois has become the first state in the nation to screen newborns for a rare, genetic condition.

The legislation, just signed by Governor JB Pritzker, is all thanks to a local family that we introduced to you last year.

"She lived a healthy life until she was 9-years-old. Last August, she was still riding on a scooter and jumping on a trampoline and now this year within the last three months, she's lost her ability to walk, talk, eat, sit up, basically everything," said Krystle Myers.

Her now 10-year-old daughter, Amelia, has a genetic condition called Metachromatic Leukodystrophy. The family tried for a year to get a proper diagnosis and when they finally did, it was too late for Amelia to receive life-saving treatment. But they vowed to never give up.

The fight took the Myers to Washington, D.C. where they met with Illinois Senator Tammy Duckworth and Illinois Congresswoman Mary Miller. Their goal was to add Amelia’s condition to the Illinois newborn screening.

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"If it could save one baby or child’s life, it’s more than worth it," said Krystle.

The family’s hard work paid off.

Last week, Governor Pritzker signed legislation to add the condition to the state’s newborn test. It will now accompany other conditions that are often misdiagnosed but treatable if caught early.

"With that early detection, a child or baby would qualify for life-saving treatment, either it be gene therapy that's up for FDA approval this year or for a stem cell therapy that could take the mutated gene out and ultimately cure or delay the disease in some way," said Krystle.

Without treatment, life expectancy for Amelia’s condition is five years. The test for Metachromatic Leukodystrophy should be added to the newborn screening in the next six months.

The Myers hope other states follow suit. The family is currently collecting donations to assist in Amelia’s end of life care. Medical bills are mounting and they are thankful for any support.