What exactly is Newborn Screening?
Every year approximately 4 million babies are born in the U.S. Within the first few days of birth a lab technician will come collect a small blood sample and submit the specimen for testing to a state or private newborn screening laboratory. Newborn screening is typically conducted by a state’s public health department and is intended for the early identification of various diseases and medical conditions that would normally not be recognizable by a physician at birth. Most of these diseases can have devastating consequences if not detected early and treated. In many cases, severe disability or even death may occur.
Virtually every baby born in the U.S. receives some level of newborn screening, but the panel of tested conditions varies widely between states. Each state’s public health department decides both the number and types of conditions on its panel. In some instances legislation is passed to add conditions to a state’s newborn screening panel. The public health departments develop and manage each state’s newborn screening program, which is designed to educate parents and healthcare providers about newborn screening and ensure that babies with out-of-range screening results receive diagnostic testing and are connected to follow-up care.
What is the concept of Universal Newborn Screening?
Currently there are many different advocacy groups that are in favor of Universal Newborn Screening (UNS). Although, there is a federal advisory committee that recommends to the states which conditions to screen newborns for, the control ultimately lies within each state. For this reason, there currently are great differences between state newborn screening programs with respect to the types and numbers of conditions screened for. In some cases, budgetary constraints impact how robust a state’s screening program may be. Advocates for universal newborn screening feel that newborn screening programs should be identical or “universal” across the states. This position often stems from the fact that the individual newborn baby obviously is unable to control the geographic location of their own birth, and should have an equal opportunity to start out life on the right foot. Currently, there are babies dying from treatable diseases simply because their state has chosen not to screen for certain diseases.
Peace, Love and Trevor Foundation’s view on Newborn Screening?
Our foundation strongly favors Universal Newborn Screening (UNS) for Krabbe disease and several other treatable lysosomal storage diseases (LSDs). Krabbe disease and many of the lysosomal storage diseases are especially suited for newborn screening, because once the child becomes symptomatic or shows the first indication of a problem – the disease has already progressed too far to qualify for any of the available therapies. This was the situation with our son Trevor. By the time, Nicole and I realized something was wrong with Trevor it was already too late for him to be saved!
At the time of Trevor’s birth in California in 2008, New York had been testing for Krabbe disease for 2 years! The harsh reality for our family and Trevor especially is that Trevor was simply born in the wrong state! Had Trevor been born in the state of New York, his disease would have been identified at birth and he likely would have undergone the latest in cord blood transplantation therapy. This therapy, if successful, would have enabled his body to produce the enzyme he desperately lacks due to a genetic flaw in his DNA. Many children treated with cord blood transplantation have amazing results – and are able to walk, talk, eat, run and play. Both their length and quality of life far exceeds the Krabbe children that are not treated. Most untreated children do not live beyond 2-3 years of age.
The video below is a self made documentary intended to show the results of cord blood transplantation on 3 children detected at birth with Krabbe disease. It should be noted that none of these children were detected by newborn screening programs, but rather because the family requested testing for Krabbe disease because the family had lost a previous child to this horrible disease. Because of a lack of support for newborn screening, these families had to lose a child in order to save another!
Do any states conduct newborn screening for Krabbe or other LSDs?
Currently, the state of New York remains the only state currently testing for any LSD diseases. New York has been testing for Krabbe since 2006. In addition to New York several other states have recently passed legislation to begin testing for several different LSDs in the coming years. These states include; Illinois, New Mexico, Missouri, and New Jersey. There are advocacy efforts ongoing in our home state of California, and it is our hope that legislation will be successful in the next few years.
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