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Cure SMA Urges Remaining States to Expedite Adoption of Newborn Screening for Spinal Muscular Atrophy
Rezul News/10472447
New Report Card Shows Two-Thirds of U.S. States Now Screen for SMA, Leaving 1 in 3 American Newborns Still at Risk for Delayed Diagnosis
CHICAGO - Rezul -- Cure SMA released a new report card highlighting that two-thirds of states have implemented screening for spinal muscular atrophy (SMA) as part of their newborn screening programs. The flipside of this tremendous progress, however, is that 1 in 3 newborns born in the U.S. are still at risk of a delayed SMA diagnosis, the most common genetic cause of mortality of kids under the age of 2 years.
"Our goal is to ensure all newborns in all U.S. states have the best chance at a healthy and full life, and the best way to do that is to implement nationwide screening for SMA at birth. We've made progress, but we need the rest of the country to catch up to better prepare families for the decisions that come with an SMA diagnosis," remarked Kenneth Hobby, President, Cure SMA.
SMA is a serious, life-threatening, neuromuscular disease affecting a person's ability to walk, swallow, and—in the most severe cases—even breathe. Thanks to important medical breakthroughs, there are now multiple effective SMA treatment options that can save babies' lives, delivering dramatically improved prognosis and quality of life. Early diagnosis and early treatment are essential for best outcomes of babies with SMA.
More on Rezul News
This month marks two years since the federal government added SMA to its Recommended Uniform Screening Panel (RUSP) list of conditions states should screen for as part of their state universal newborn screening programs. This is done by administering a simple genetic blood test.
A report card on the state of newborn screening for SMA breaks down all 50 states, and the District of Columbia, into two categories:
Screening States: 26 states have implemented permanent screening programs for SMA and have led the way in newborn screening, while 5 additional states currently screen newborns in their state through a pilot program or population study.
Non-Screening States: 3 states are taking the final steps toward implementation of permanent newborn screening for SMA, while 35 percent of states (16 total, plus the District of Columbia) still have critical actions that need to be taken toward adopting measures around screening their newborns for SMA.
"Early diagnosis leading to early treatment offers a family facing SMA the best possible outcome and that was our goal when we set out to get SMA added to the RUSP," said Jill Jarecki, Ph.D., Chief Scientific Officer, Cure SMA. "We now need states that have yet to implement newborn screening to act now so parents have the critical information they need to make the best decisions for their child and so that all families across the U.S. are treated equally."
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Approximately one in every 11,000 live births in the U.S., and one in every 50 Americans is a genetic carrier of the SMA gene. To parents of a child with SMA, any delay in their ability to help their child is unacceptable, especially given the availability of effective treatments. Their baby's life is at risk, and without newborn screening, they may not know until it is too late.
About SMA
SMA is a progressive neurodegenerative disease that robs an individual of their ability to walk, swallow, and breathe. SMA is the leading genetic cause of death for infants. Symptoms can surface within the first 6 months of life (Type 1, the most severe and common), during the toddler years (Types 2 and 3), or in adulthood (Type 4, the least common form). SMA affects 1 in 11,000 births in the United States each year, and approximately 1 in 50 Americans is a genetic carrier. The good news is that there are now highly effective FDA-approved treatments for SMA that make it possible for individuals with SMA to achieve developmental milestones and live full and productive lives.
About Cure SMA
Cure SMA is dedicated to the treatment and cure of SMA. Since 1984, Cure SMA has grown to be the largest network of individuals, families, clinicians, and research scientists working together to advance SMA research, support affected individuals/caregivers, and educate public and professional communities about SMA. The organization has directed and invested in comprehensive research that has shaped the scientific community's understanding of SMA, led to breakthroughs in treatment and care, and provided individuals and families the support they need today. For more information, visit www.cureSMA.org.
"Our goal is to ensure all newborns in all U.S. states have the best chance at a healthy and full life, and the best way to do that is to implement nationwide screening for SMA at birth. We've made progress, but we need the rest of the country to catch up to better prepare families for the decisions that come with an SMA diagnosis," remarked Kenneth Hobby, President, Cure SMA.
SMA is a serious, life-threatening, neuromuscular disease affecting a person's ability to walk, swallow, and—in the most severe cases—even breathe. Thanks to important medical breakthroughs, there are now multiple effective SMA treatment options that can save babies' lives, delivering dramatically improved prognosis and quality of life. Early diagnosis and early treatment are essential for best outcomes of babies with SMA.
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This month marks two years since the federal government added SMA to its Recommended Uniform Screening Panel (RUSP) list of conditions states should screen for as part of their state universal newborn screening programs. This is done by administering a simple genetic blood test.
A report card on the state of newborn screening for SMA breaks down all 50 states, and the District of Columbia, into two categories:
Screening States: 26 states have implemented permanent screening programs for SMA and have led the way in newborn screening, while 5 additional states currently screen newborns in their state through a pilot program or population study.
Non-Screening States: 3 states are taking the final steps toward implementation of permanent newborn screening for SMA, while 35 percent of states (16 total, plus the District of Columbia) still have critical actions that need to be taken toward adopting measures around screening their newborns for SMA.
"Early diagnosis leading to early treatment offers a family facing SMA the best possible outcome and that was our goal when we set out to get SMA added to the RUSP," said Jill Jarecki, Ph.D., Chief Scientific Officer, Cure SMA. "We now need states that have yet to implement newborn screening to act now so parents have the critical information they need to make the best decisions for their child and so that all families across the U.S. are treated equally."
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Approximately one in every 11,000 live births in the U.S., and one in every 50 Americans is a genetic carrier of the SMA gene. To parents of a child with SMA, any delay in their ability to help their child is unacceptable, especially given the availability of effective treatments. Their baby's life is at risk, and without newborn screening, they may not know until it is too late.
About SMA
SMA is a progressive neurodegenerative disease that robs an individual of their ability to walk, swallow, and breathe. SMA is the leading genetic cause of death for infants. Symptoms can surface within the first 6 months of life (Type 1, the most severe and common), during the toddler years (Types 2 and 3), or in adulthood (Type 4, the least common form). SMA affects 1 in 11,000 births in the United States each year, and approximately 1 in 50 Americans is a genetic carrier. The good news is that there are now highly effective FDA-approved treatments for SMA that make it possible for individuals with SMA to achieve developmental milestones and live full and productive lives.
About Cure SMA
Cure SMA is dedicated to the treatment and cure of SMA. Since 1984, Cure SMA has grown to be the largest network of individuals, families, clinicians, and research scientists working together to advance SMA research, support affected individuals/caregivers, and educate public and professional communities about SMA. The organization has directed and invested in comprehensive research that has shaped the scientific community's understanding of SMA, led to breakthroughs in treatment and care, and provided individuals and families the support they need today. For more information, visit www.cureSMA.org.
Source: Cure SMA
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