January 26, 2010
(New York,N.Y.)-Senator Dean Skelos and Senator Kemp Hannon today announced that they have introduced legislation to strengthen New York State’s Newborn Screening Program by adding five rare genetic diseases to the list of disorders that infants are tested for at birth. Early detection and treatment are critical for babies afflicted with these diseases, which can be debilitating and deadly if undiagnosed.
The legislation (S.6656) adds the following diseases to the list of neonatal testing required in New York State: Pompe disease, Fabry disease, Niemann-Pick disease, Gaucher disease, and Severe Combined Immunodeficiency Disease (SCID). Pompe disease is a physically debilitating and often fatal neuromuscular disorder which is a highlighted in the new Harrison Ford film, “Extraordinary Measures.”
Senator Skelos (R-C-I-Rockville Centre) said, “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. A simple blood test can determine if a baby has one of these rare disorders, which can cause abnormal physical development, mental retardation or other problems if untreated. Early diagnosis and medical treatment can often prevent serious illness.”
Senator Hannon (6th SD-Garden City), Ranking Member of the Senate Health Committee, said “This public health initiative is a crucial step toward identifying and subsequently providing the necessary care for those infants stricken with serious illness, whom might otherwise go untreated. Therefore, I commend Senator Skelos for this important amendment to the current Public Health Law, and provide my full support for the enactment of his proposal.”
New York State’s Newborn Screening Program was established in 1965 to ensure that all newborns are tested for rare disorders. Early diagnosis and medical treatment have been proven to prevent or lessen the severity of many diseases and conditions.
The screening involves a simple heel prick with a small needle to gather blood. Many conditions can be identified with just a tiny sample of blood.
Over the past 45 years, diseases and conditions have been added to the State’s program to keep New York State at the forefront of newborn testing. 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. As of 2010, infants born in New York are tested for more than 40 disorders.
SCID, commonly referred to as the “Bubble Boy Disease,” makes sufferers highly susceptible to life-threatening infections by viruses, bacteria, and fungi. SCID can be cured with a bone marrow transplant if diagnosed in the first few weeks or months of life. Children with untreated SCID rarely live past the age of two.
Fabry disease results from a buildup of a particular type of fat in the body’s cells, and causes pain in the hands and feet, hearing loss, dark red spots on the skin and can cause strokes, heart attacks and damage to the kidneys. Niemann-Pick, a condition in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow and brain, is classified by three different types. Most children affected by type A Niemann-Pick do not survive past early childhood. Gaucher disease, another genetic disorder, affects the body’s organs and tissues.