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The Evanosky Foundation firmly believes that early detection is critical for MLD and other lysosomal storage disorders, and has been active in the passage of laws in Illinois (2007), Missouri (2009), and New Mexico (2010) that advocate newborn screening. 

Jack - January 2004Currently, when a baby is born, its heel is pricked and a small amount of blood is taken and placed on a card.  This dried blood spot card is then sent to the newborn screening lab for the state where the baby was born, and the baby is tested for a variety of diseases.  However, the number of diseases a baby is tested for is entirely dependent on what the state has chosen to test.  Some states test for as few as 7 diseases while others, such as New York, test for over 40. 

A Federal Newborn Screening advisory panel is in place that helps to provide guidance to the states on what diseases they should test for.  In addition, each state has its own Newborn Screening (NBS) advisory panel. 

  • Read the transcript of Bob Evanosky's comments at the June 2006 meeting of the Federal Newborn Screening advisory panel here.
  • Read an article that Bob Evanosky wrote for the Acid Maltase Deficiency Association (AMDA), which funds research and promotes awareness of Pompe Disease.
  • On June 16, 2008, Bob Evanosky was a featured speaker at the Ethics in Cellular Therapy Conference at Duke University.  The conference focused on discussing newborn screening and treatment alternatives for children with inborn errors of metabolism and the ethics involved.  An "inborn error of metabolism" refers to children who were born with their bodies missing something such as an enzyme, protein, etc. which allow the body to work right.  Since children with MLD are missing the enzyme ARSA, MLD is considered to be an inborn error of metabolism.  Bob Evanosky spoke from the point of view of a parent advocate (click here to see the agenda and full range of speakers).  You can view Bob's entire presentation by clicking here.

The most recent national improvement in newborn screening legislation, The Newborn Screening Saves Lives Act, sponsored by Senator Christopher Dodd (D-CT), was signed into law by President Bush on April 24, 2008.  The bill provides for expansion of screenings for newborns and will authorize a grant program to increase funding to state and local health agencies to provide screening, counseling, and health care services to newborns and children who have or are at risk for genetic disorders.  Michael S. Watson, PhD, FACMG, executive director of the American College of Medical Genetics praised the new law, stating, "With the current expansion of newborn screening panels, it is estimated that about 10,000 of the 4.1 million babies born each year in the United States will be identified with one of the conditions for which treatment will have a significant impact on long-term outcome."  To read the Newborn Screening Saves Lives Act, click here.

Christopher and John with the McDermott Girls - Feb 2002However, in spite of this improvement and expansion in laws relating to newborn screening, the diseases newborns are actually screened for still varies widely, depending upon the state a child is born in.  In 2007, The Evanosky Foundation helped to author and spearhead the passage of Illinois Senate Bill SB1566, which provides for the implementation of newborn screening in Illinois for Pompe, Krabbe, Gaucher, Niemann-Pick and Fabry diseases.  Each of these diseases is similar to MLD and is classified as a lysosomal storage disorder.  SB1566 also mandates that other lysosomal storage disorders--such as MLD--be added to the newborn screening panel once tests for those diseases have been developed.

In 2009, The Evanosky Foundation advocated for and promoted newborn screening in Missouri by supporting Missouri House Bill 716.  Click here for more information!

In March 2010, New Mexico became the third state in the U.S. to expand newborn screening.  The implementation of HB 201 will allow approximately 28,000 babies each year to be screened for Fabry, Gaucher, Krabbe, Pompe, and Niemann-Pick diseases, which is especially beneficial for New Mexico since it has the highest incidence of Niemann-Pick C disease in the country.

We are glad to report that on August 23, 2011, Illinois Governor Patrick Quinn signed Illinois Senate Bill 1761 into law.  IL SB1761 was created by The Evanosky Foundation and filed by Illinois Senator Dale Righter on February 9, 2011.  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. 

It is The Evanosky Foundation's goal to continue to support and advocate for early screening of all lysosomal storage disorders (there are 40 of them!) and we will not stop until all 50 states test all of their babies for these terrible diseases. 

Dr. Michael Gelb of the University of Washington has developed a newborn screening test, or assay, that will detect 5 rare diseases (Gaucher, Krabbe, Pompe, Niemann-Pick and Fabry disease), all of which are related to MLD.  Currently only one state, New York, is using this assay, but they are only testing for one of the diseases, Krabbe.  Dr. Gelb is now working to include MLD in this assay as well, and we believe this should occur very soon.

After an assay for MLD has been developed, it will need to be "productionalized" so that the test can be run quickly on thousands of babies per day.  A pharmaceutical company has been heavily involved in doing this type of work and has committed to doing this for MLD.  The Evanosky Foundation is working with this pharmaceutical company, the Federal Newborn Screening Committee, and the State of Illinois Newborn Screening Committee to implement the benefits of Dr. Gelb's tests in Illinois and perhaps all of the other states as well.

We at The Evanosky Foundation believe that newborn screening is critical to the identification and treatment of MLD.  If newborn screening had been available for all of our children, we would have had the opportunity to have all of them transplanted and perhaps cured of MLD.

The Evanosky Foundation will continue to pursue newborn screening efforts at both the federal and state levels to ensure that fatal lysosomal storage disorders are detected as soon as possible.

Save the Babies Foundation provides information on what diseases each state tests for as well as information on how to obtain additional screening for your baby or young child.