Agencies | Governor
Virginia Regulatory Town Hall
Agency
Virginia Department of Health
Board
State Board of Health
chapter
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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6/27/19  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.