In 2006 and 2007, The Evanosky Foundation worked to expand newborn screening in the State of Illinois to include lysosomal storage disorders (LSD). There are approximately 40 known LSDs, one of which is MLD—the disease that John, Christopher and Jack Evanosky have. Lysosomes function as the “garbage disposal” for the cell, and when they are missing a substance that helps them to break down nutrients, these substances accumulate and become toxic. In all cases, if left untreated, LSDs will lead to death. Click here for a fact sheet that we have compiled on LSDs.
After coordinating efforts with a variety of groups and individuals, The Evanosky Foundation was pleased to announce that IL SB1566 was filed on February 9, 2007. It was a bi-partisan bill that was authored by Senator Dale Righter (R) and co-sponsored by Senator Carol Ronen (D) and Senator M. Maggie Crotty (D). In the House of Representatives, the bill was sponsored by Representative JoAnn Osmond (R) and Representative David Miller (D). On November 5, 2007, Governor Rod Blagojevich signed this bill and passed it into law, making Illinois the first state in the country to screen for five fatal childhood diseases. If detected and treated early, these diseases can be treated and provide a child with an opportunity to lead a much better life. Click here to view the Governor’s press release.
Even if you do not live in Illinois, SB1566 can benefit you and your family because other states will be able to learn from Illinois and follow its example so that all children within this country can be screened for these diseases.
What is SB1566?
- SB1566 introduces Lysosomal Storage Disorder (LSD) Newborn Screening to the State of Illinois by screening newborns for Pompe, Krabbe, Gaucher, Niemann-Pick and Fabry diseases. Treatment for these diseases is only effective if it is started before symptoms appear, so newborn screening is appropriate and necessary. The rate of incidence for all LSDs in the human population is 1 in 5,000. Within Illinois over 180,000 children are born annually, so this means that approximately two kindergarten classes of children are affected each year by a potentially fatal LSD. LSDs do not discriminate with regard to sex or race.
- It will protect the monies in the Metabolic Screening and Treatment Fund. The Metabolic Screening and Treatment fund is used for newborn screening to detect rare or fatal diseases in babies. In the past, money has been appropriated from this fund to help other areas of the budget which resulted in a three year delay of the purchase of a computerized record-keeping system in the newborn screening laboratory. Additionally, it slowed down the implementation of Cystic Fibrosis newborn screening within the State of Illinois.
- SB1566 calls for the protection of the Genetic and Metabolic Diseases Advisory Committee. Currently, this advisory committee provides intellectual guidance to the Illinois Department of Public Health by recommending which future disorders will be included in its newborn screening test profile. Disorders are included in screening if a condition is relatively common, testing is simple and low cost, and effective treatment or intervention is available. Currently, however, there is no protection for this committee and it can be dissolved at any time.
For the exact language of the bill, please visit the Illinois General Assembly website.
Need more information?
For a downloadable fact sheet on LSDs and SB1566, click here.