Requires the testing of newborns for Pompe disease, Fabry disease, Niemann-Pick disease, Gaucher disease and severe combined immunodeficiency disease

Summary of provisions

Subdivision (a) of Section 2500-a of the Public Health Law, as amended by Chapter 863 of the Laws of 1986, is amended to add Pompe disease, Fabry disease, Niemann-Pick disease, Gaucher disease and severe combined immunodeficiency disease (SCID) to the list of tests to be administered to infants born in the State of New York.

Existing law

Current New York State Law does not mandate the testing of infants for Pompe disease, Fabry disease, Niemann-Pick disease, Gaucher disease or severe combined immunodeficiency disease (SCID).

Justification

New York State's Newborn Screening Program began in 1965. The goal of the program is to help-ensure that newborn infants are tested, through a simple blood test, for rare disorders. Early diagnosis and medical treatment has been proven to prevent or lessen the .'severity of many diseases and conditions. Over the past forty-five (45) years, diseases and conditions have been added to the State's program to keep New York State at the forefront of newborn testing. As of 2010, infants born in the State of New York are tested for more than forty (40) disorders. While rare, these diseases are usually very serious and some even life threatening. For many of these disorders or conditions a lack of early detection and treatment can cause mental retardation, abnormal physical development and a host of other problems.

As scientific techniques for newborn testing continue to advance, it has become possible to test a number of additional disorders. It is incumbent upon the State of New York to add these diseases to their newborn screening program. Several years ago, New York State added Krabbe disease, a lysosomal disorder which killed the son of former Buffalo Bills quarterback Jim Kelly, to the State's Screening Program. According to the Lysosomal Storage Disease Program at Cedars Sinai Hospital, lysosomal storage diseases are caused by a lack of enzymes that normally eliminate unwanted substances in the cells of the body. The lack of certain enzymes causes a buildup of the substance the enzyme would normally eliminate, and deposits accumulate in many cells of the body. Abnormal storage causes

inefficient functioning and damage to the body's cells, which can lead to serious health problems.

There are now, other lysosomal storage disorders that have been added to the newborn screening programs in Missouri and Illinois. These include Pompe disease, which occurs in 1 in 40,000 people; Fabry disease, which occurs between 1 in 40,000 and 1 in 60,000 people; Gaucher disease which, depending on the disease type and a person's heritage, occurs between 1 in 500 to 1 in 1,000 persons in high-risk groups to 1 in 50,000 and 1 in 100,000 people in the general population; and NiemannPick disease, which depending on the disease type and a person's heritage, occurs at rates between 1 in 40,000, 1 in 150 000 and 1 in 250,000. This legislation would add the testing of these diseases to New York's program.

In addition, the State of Wisconsin is now testing for severe combined immunodeficiency disease (SCID), commonly referred to as the "Bubble Boy Disease," According to the National Genome Research Institute at the National Institutes of Health, SCID is caused by defects in any of several possible genes which make those affected highly susceptible to life-threatening infections by viruses, bacteria and fungi. The classic symptoms of SCID include an increased susceptibility to a variety of infections, including ear infections (acute otitis media), pneumonia, bronchitis, oral thrush (a type of yeast that multiplies rapidly, creating white, sore areas in the mouth), and diarrhea. Because children with SCID experience multiple infections, they fail to grow and gain weight as expected (i.e., failure to thrive). Children with untreated SCID rarely live past the age of two, therefore, early detection and treatment are crucial. This legislation will also add severe combined immunodeficiency disease to the New York's Newborn Screening Program. New parents in New York State should have the benefit of knowing that their infants are being tested for as many diseases as possible at birth.

Legislative history

This is a new bill.

Fiscal implications

To be determined.

Effective date

This act shall take effect January 1, 2011; provided, that, effective immediately, the addition, amendment and/or repeal of any rule or regulation necessary for the implementation of this act on its effective date is authorized and directed to be completed on or before such date.