May 14, 2021

Virginia Department of Health

109 Governor Street

Richmond, VA 23219

Re: Regulations Governing Virginia Newborn Screening Services (amending 12VAC5-71-30)

Dear Virginia Department of Health:

On behalf of Virginia residents and families with a neuromuscular disease known as spinal muscular atrophy (SMA), Cure SMA strongly supports the proposed Virginia State Board of Health rule change to add SMA to Virginia’s newborn screening panel. Finalizing the newborn screening rule will ensure that all Virginia babies are screened at birth for the leading genetic cause of infant death. 

SMA is a genetic disease caused by a mutation in the survival motor neuron gene 1, or SMN1. In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, taking away an individual’s ability to walk, eat, and breathe. SMA impacts 1 in 11,000 births in the United States. In Virginia, more than 170,000 residents are carriers of the SMA genetic mutation. If both parents are SMA carriers, every child they have together has a 25% chance of being diagnosed with SMA, regardless of race, ethnicity, and gender. Approximately 9 babies with SMA are born annually in Virginia.[i]

The regulatory proposal to add SMA to the state’s newborn screening panel comes at a time of great promise for the SMA community. The U.S. Food and Drug Administration (FDA) has approved three treatments for SMA—Spinraza (2016), Zolgensma (2019), and Evrysdi (2020)—that make it possible for individuals born with SMA today to achieve unprecedented developmental milestones and to fully participate in their communities. Clinical data also shows that these treatments are most effective when delivered early, and especially when pre-symptomatic.[ii] Early diagnosis and timely treatment are critical for babies born with SMA, making action on this newborn screening rule so important.

The proposed rule would simply add SMA and another condition (X-linked adrenoleukodystrophy or X-ALD) to the list of disorders screened in Virginia. Screening all Virginia newborns for SMA will “provide affected infants the benefit of early diagnosis and treatment,” as highlighted in the regulatory purpose statement.[iii] The regulatory proposal to add SMA and X-ALD to Virginia’s screening program are also consistent with screening recommendations by the federal Advisory Committee on Heritable Disorders in Newborns and Children and the Virginia Genetics Advisory Committee

Cure SMA and our Virginia supporters, including Debbi Schaefer of Spotsylvania and Kyle Derkowski of Ashburn, fully support approval and swift implementation of the Virginia newborn screening proposed rule change.

Debbi Schaefer, a grandmother of two girls with SMA, participated in the federal advisory committee meeting when SMA was being considered for the Recommended Uniform Screening Panel. Her granddaughter, Madison, died from SMA Type 1 in 2012 at age 7 months old. Her granddaughter, Bailey, was born with SMA Type 1 two years later in 2014. Bailey was diagnosed with SMA before birth and was able to access an effective SMA treatment at 3 months of age. Today, she is a feisty 1st grader who has strong head control, can power her own manual wheelchair, and, while she primarily receives nutrition through G-tube feeds, has some capability to drink and eat some foods independently. “Newborn screening makes a profound difference through early access to treatments,” Debbi said. “The physical, emotional, and social impact are immense, making a world of difference not just in the life of the child, but also for the whole family.”

Kyle Derkowski, a 33-year-old adult with SMA Type 2, traveled to Richmond with his wife, Laura, to personally advocate for newborn screening of SMA with the Virginia advisory committee. “As a person with SMA, I can attest to the importance of early treatment which screening would ensure,” said Kyle, who works as a software engineer for the government. “Treating SMA pre-symptomatically not only drastically improves lives, but it saves lives.”

Cure SMA is grateful for the leadership of the Virginia Department of Health and state leaders for putting Virginia on the cusp of newborn screening for SMA. Approval of the SMA newborn screening rule will allow Virginia to join the 36 other states who already screen for SMA through permanent or pilot programs. We ask that you enact this important rule and finalize the next steps to implement newborn screening of SMA in Virginia.

Thank you for considering our views. Please do not hesitate to contact Cure SMA if you have questions or need additional information. Cure SMA can be reached through Maynard Friesz, Vice President for Advocacy at Cure SMA, at maynard.friesz@curesma.org or 202-871-8004.

Sincerely,