Over the last five months, The Evanosky Foundation has been working to expand newborn screening in the State of Illinois to include Mucopolysaccharidoses Type I and II (MPS I/II), which are both catagorized as lysosomal storage disorders (LSD). There are approximately 40 known LSDs, one of which is MLD (the disease the John, Christopher and Jack Evanosky have). Lysosomes function as the “garbage disposal” for the cell, and when they are missing an enzyme that helps them to break down nutrients, these substances accumulate and become toxic. In all cases, if left untreated, LSDs will lead to death.
In addition to MPS I and II, The Evanosky Foundation is also advocating newborn screening for Severe Combined Immunodeficiency (SCID). SCID is a terminal disease that can be identified at birth and is curable if treated immediately. If a baby is diagnosed with SCID it means, in simple terms, that the baby’s immune system cannot protect it from the environment.
After coordinating efforts with a variety of groups and individuals, The Evanosky Foundation is pleased to announce that IL SB1761 unanimously passed the Senate’s Public Health Committee on March 8, 2011. It now moves to the full Senate for a vote. This is a bipartisan bill that was authored by Senator Dale Righter (R) and is co-sponsored by Senator Heather A. Steans (D) and Senator A.J. Wilhelmi (D). This law requires the State of Illinois to test all future newborns for Mucopolysaccharidoses I and II (MPS I and II) and Severe Combined Immunodeficiency (SCID). Illinois is the first state in the US to screen for MPS I/II and will set the standard for all others to follow. For the exact language of the bill, please click here.
The explanation of SB1761 is as follows:
SB1761 adds two additional Lysosomal Storage Disorders (LSDs) to the State of Illinois Newborn Screening Test Panel by screening newborns for Mucopolysaccharidoses Type I and II (MPS I/II).
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 gender or race.
SB1761 adds Severe Combined Immunodeficiency (SCID) to the State of Illinois Newborn Screening Test Panel.
According to the Immune Deficiency Foundation, “SCID is a primary immunodeficiency disease. Affected infants lack T lymphocytes, the white blood cells that help resist infections due to a wide array of viruses, bacteria and fungi. Babies with SCID appear healthy at birth, but without early treatment, most often by bone marrow transplant from a healthy donor, these infants cannot survive.
SCID has been characterized in the medical community as a pediatric emergency. If a baby with SCID receives a bone marrow transplant in the first 3.5 months of life, the survival rate can be as high as 94 percent. However, the survival rate drops to less than 70 percent for infants who are transplanted after that age. The main causes for the drop in survival rate are serious infections babies with SCID develop prior to transplantation.”
Your help four years ago with Illinois SB1566 allowed Illinois to blaze the trail for other states to implement screening for LSDs. Help us to do it again and make a difference in the lives of children and families so that no family will have to endure another unnecessary fatal diagnosis.