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Virginia Regulatory Town Hall
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Virginia Department of Health
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State Board of Health
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Regulations Governing Virginia Newborn Screening Services [12 VAC 5 ‑ 71]
Action Amend Regulations to add SMA and X-ALD to the Virginia Newborn Screening System
Stage NOIRA
Comment Period Ends 6/27/2019
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6/25/19  9:50 am
Commenter: Jaimie Vickery, Cure SMA

Add SMA to VA's Newborn Screening Panel
 

On behalf of the largest nonprofit organization dedicated to finding a cure for spinal muscular atrophy (SMA), we ask that Virginia adopt newborn screening for SMA as soon as possible.

 

SMA is the most common genetic cause of death in infants in the United States, affecting approximately 1 in 11,000 newborns. The condition is caused by a mutation in the survival motor neuron gene 1 (SMN1) that causes nerve cells to malfunction, leading to debilitating and often fatal muscle weakness. In Virginia, 9 babies are born with SMA every year, and roughly 155,000 individuals are genetic carriers of the condition. 

 

Fortunately, there are two FDA-approved treatments for the disease, but they cannot repair motor neuron damage that has already happened, only slow down or prevent further damage. Because of this, treatment must happen as soon as possible for it to be most effective.  In some cases, this may be before a child shows any symptoms of the disease. It is critical, therefore, that newborns with SMA be identified and receive treatment as soon as possible.   

 

Given the importance of newborn screening in effectively treating SMA, Health and Human Services Secretary Alex Azar added SMA to the Recommended Uniform Screening Panel in July of 2018, and Virginia’s Advisory Council voted to add it in November 2018.  More than twenty other states have approved adding SMA to their newborn testing program, and seven states have already begun testing.  Already, several infants have been identified and are receiving life-saving treatment.

 

  Therefore, we ask that Virginia adopt this screening as soon as possible.


6/27/19  5:22 pm
Commenter: Debra Schaefer, Virginia Chapter Cure SMA

Add SMA to VA’s Newborn Screening Panel
 

I can’t express strongly enough the importance and urgency of adding Spinal Muscular Atrophy (SMA) to Virginia’s Newborn Screening Panel as expeditiously as possible.

My family has experienced the heartbreaking loss of my first granddaughter 7 years ago to SMA, at the tender age of 7 months.  At that time, there was no treatment and no cure.  We are now experiencing the joy of seeing my second granddaughter live and thrive with SMA since her participation from the time she was 3 months of age in the clinical trial that resulted in the first FDA approved treatment for SMA.  She had already lost most of her ability to move.  Although still medically fragile, she is 5 1/2 years old and able to do things previously unheard of for a Type 1 baby, including holding up her head and propelling her own manual wheelchair.

We have seen firsthand the profoundly improved outcomes for the Type 1 babies who are diagnosed and treated PRIOR to exhibiting symptoms.  PLEASE expedite implementation of Newborn Screening for SMA in Virginia so that approximately 9 families per year will never know the struggles we will face every day.