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News from
The News Gazette.com Nov. 23, 2007
Newborn screenings expanded
By Kate Clements
Friday, November 23, 2007 7:08 AM CDT
SPRINGFIELD – A new state law is designed to protect infants from a
series of genetic and metabolic disorders by catching and treating
them sooner.
"Lysosomal
storage diseases are very hard to diagnose, because affected
infants initially appear perfectly healthy," said state Sen. Dale
Righter, R-Mattoon, who sponsored SB 1566. "Once the symptoms become
apparent, the disease will have progressed to a stage where it is
very difficult to treat. Enhancing newborn screenings to test for
lysosomal disorders will help doctors get them the help they need in
a more timely fashion."
Righter said he got involved in the issue after hearing from parents
whose children suffer from types of lysosomal storage diseases,
meaning their cells are not properly disposing of waste material
because of a lack of certain enzymes. The diseases can cause a wide
range of symptoms, and most afflicted children do not survive longer
than three years.
Righter's legislation requires all newborns to be screened for five
major forms of lysosomal disease: Krabbe, Pompe, Gaucher, Fabry and
Niemann-Pick.
The measure passed the House and Senate unanimously. The legislation
took effect immediately after the governor signed it on Nov. 5, but
the required testing will not begin right away. According to the new
law, the goal is to begin the expanded screenings within three years,
after Illinois Department of Public Health officials acquire the
necessary equipment and testing materials.
Melaney Arnold, a spokeswoman for the department, said she was not
sure when the testing would begin because the state was waiting on
the federal government.
"The goal of the act was to have it implemented within three years,"
Arnold said. "That's the goal, but there's nothing (the department)
can do until the Food and Drug Administration approves it and the
Centers for Disease Control is able to make it available. But once
all the pieces fall into place, six months after that is when we'll
start doing it."
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