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,

I strongly support this proposal to implement newborn screening for SMA.  Screening is imperative to identify the children who will benefit from critical treatment for this serious and deadly condition. I have witnessed a family lose their precious infant because they were unaware that he was born with this genetic condition.  Newborn screening will give infants in Virginia the access to care they need to have a chance at life.  Additionally, this proposal will bring Virginia in line with federal recommendations for screening and the practices of the majority of states that already require this screening for SMA. 

Thank you.

I fully support this initiative. 

I strongly support this proposal to add newborn screening for SMA and ALD. I am a 29 year old woman who was recently diagnosed with ALD. I’ve connected with many woman who found out they were ALD carriers by unknowingly passing the gene on to a child. It is truly devastating hearing their stories about the loss of their children and loved ones to this disease. The loss of their loved ones could have been prevented if they had the option to screen their newborn child. This implementation can SAVE LIVES!!! More people are discovering they have these genetic mutations ever day. That is why it’s imperative that this proposal be passed. Families will have the opportunity and knowledge to access medical care,  start early treatments and most importantly, give their child the chance to live! I’m hoping to start a family of my own one day and praying that this proposal is approved. 

I fully support the proposed initiative to add ALD to the newborn screening panel. 

I fully support the proposed initiative to add ALD to the newborn screening panel.  I am an expectant mother and support my newborn being screened for any and every condition possible.  I would love for my newborn to be screened for ALD, as early detection is key.  I have a close friend who was diagnosed with ALD later in life and it would have helped her tremendously, should she have found out sooner.  Please pass this proposal to benefit all Virginians. 

I have ALD and test results revealed this just a couple years ago (I was age 40 when symptoms began, I am now 55).     As an adult, and it took me approximately 15 years to get diagnosed (after multiple visits with doctors and expensive MRI's, scans, blood testing on and on).   I have 2 girls, ages 26 and 29, both have been tested for ALD and one child tested positive and the other negative (it was recommended that my children be tested).   This was a hidden disease for me and my family until I was diagnosed. 

I feel it is very important to screen for these diseases and I support adding ALD to the Virginia newborn screen panel.     

Thank you.  

I am in support of pre-screening!

I support the proposed initiative to add ALD to the newborn screening panel. This disease has affected a good friend of mine. 

My soon-to-be daughter-in-law has been identified as having the X-ALD gene. For her and my son, and all in Virginia who are affected by this genetic disorder and hoping to start a family, I strongly support the proposed initiative to add ALD to the newborn screening panel in Virginia.

I fully support the proposal to add ALD to the newborn screening. My fiance recently found out she is a carrier of the ALD mutation,. With ALD on the screening panel, newborns and their parents will be able to begin all necessary treatments and precautions immediately so that the newborn can have every opportunity possible to fight this unpredictable disease.

My future sister-in-law has been identified as having the X-ALD gene. For her and my beloved brother and all in Virginia who are affected by this genetic disorder and hoping to start a family, I passionately support the proposed initiative to add ALD to the newborn screening panel in Virginia.

I strongly support the initiative to add ALD to the newborn screening panel!

- Support the Rule Proposal to Add X-ALD and SMA to the VA Newborn Screening Panel

I strongly support the initiative to add ALD to the newborn screening panel!

I support the proposal to add X-ALD and SMA to the Virginia Newborn Screening Panel.

I BELIEVE THAT ALD IS AN APPROPRIATE CONDITION TO RECEIVE SCREENING IN NEWBORNS SO THAT ITS EFFECTS CAN BE MITIGATED. 

I support the proposal to add X-ALD and SMA to the Virginia Newborn Screening Panel.

I love this family and want the best for them. I support the proposed initiative.

I support the proposal to add X-ALD and SMA to the Virginia Newborn Screening Panel.

I want to encourage legislators to pass an amendment to allow newborn screening for SMA and X-ALD in Virginia.  This will be a positive step towards assuring preventive actions for and early detection of health issues in infants.  

I wholeheartedly support this initiative. Pre-screening for ALD is critical in allowing treatment to begin immediately, reducing or even eliminating the effects of the condition. This is a no-brainer to help our current and future citizens of Virginia.

The purpose of newborn screening is to detect potentially fatal or disabling conditions in newborns as early as possible, often before the infant displays any signs or symptoms of a disease or condition. Such early detection allows treatment to begin immediately, which reduces or even eliminates the effects of the condition. Many of the conditions detectable in newborn screening, if left untreated, have serious symptoms and effects, such as lifelong nervous system damage; intellectual, developmental, and physical disabilities; and even death.  I feel that this screening should become mandatory.

I am commenting in support of adding ALD screening to the newborn screening panel.  This would allow for early treatment which can be pivotal in the quality of life for a person with this genetic abnormality.

I wholeheartedly support the proposal to add X-ALD and SMA to the Virginia Newborn Screening panel. We should use science and technology to mitigate needless suffering when and where appropriate. 

I am in support of the proposed initiative to add ALD to the newborn screening panel, as early detection can greatly improve quality of life.  

Please amend regulations to add SMA and X-ALD to the Virginia Newborn Screening System.

I fully support this proposal to implement newborn screening for ALD and SMA. One of my dearest lifelong friends was recently diagnosed as a carrier for ALD and was heartbroken to learn that the ALD gene is passed hereditarily meaning she would be putting her future child at risk. This is a LIFESAVING measure that would give families the opportunity to knowledge and be able to access medical care that would keep children alive. Please pass this initiative!

I support this proposal to add ALD to the newborn screening services. I have a close friend who was diagnosed with this disease as an adult. Anything that can be done to proactively identify the disease as early as possible, in order to give every child a chance to know about, plan for and overcome potential obstacles to living their fullest life is a worthwhile endeavor.  As a new parent, I also know that providing parents with as much information as possible as early as possible will only help them as they seek to provide their child with the best possible care. As parents, not having all the information possibly available can be detrimental to our own mental health, particularly if we are struggling to identify the cause of an illness in our child. 

I support the regulation to implement newborn screening for SMA in Virginia

To whom it may concern, 

I support the regulation to implement SMA newborn screening in Virginia.  Please take this into thoughtful consideration, as this could help to eradicate a life altering disease and change the trajectory in the lives of families impacted by this horrific disease.  Thank you for your consideration!

Sincerely,

Shea Clingerman

As the mother of a child with SMA, I wholeheartedly support adding SMA screening in Virginia for newborns, along with X-ALD screening. Now that treatments have been approved for SMA, it is vital that infants be diagnosed as early as possible.

As a Virginia resident, I support this legislation. 

Adding Spinal Muscular Atrophy to the newborn screening panel is a matter of life or death for some nine Virginia babies a year.  The sooner families know that they face this choice, the more likely they can obtain treatment so that their children will grow up free of wheelchairs, feeding tubes, and early death.  An infusion of Zolgensma at day 10 of a baby's life may mean that the baby can produce the proteins necessary to lead a normal life thereafter.  It's still a little early to tell how complete the cure is, since FDA approval was recent, but it seems very substantial so far.  Please act immediately.

Thank you,

Robin Westbrook, Great Falls, VA

We support newborn screening for SMA!  This is critical to the health and development of infants born with SMA.  Early treatment saves lives.  

I strongly support and advocate for the regulation to implement infant screenings for SMA and X-ALD in the state of Virginia.

I support the regulation to implement SMA in Virginia.

I fully support the important addition of SMA to newborn screening as it will save many lives with the new medications that are available. The sooner the diagnosis is made, the faster we are able to save function in these patients, which will have life long impacts from activities of daily living to independence. This is extremely important. Thank you!

I fully support adding SMA to list of newborn screenings that are done! This is an important addition that will help newborns and parents immensely. 

I am in complete support of the proposal of adding newborn screening for SMA to the VA Panel. Time is muscle and this can be a life saving and life altering test that could identify diagnosis earlier and start a treatment option. 

I would like to encourage legislators to amend regulations to add SMA and X-ALD to the Virginia Newborn Screening system.  This would help parents to plan appropriately for any children who are diagnosed with these.  

I strongly support adding SMA and X-ALD to Virginia’s Newborn Screening Panel and implementation of testing as soon as possible!  Virginia is already almost 3 years behind some other states who implemented testing very soon after SMA was added to the RUSP (Recommended Uniform Screening Panel) at the national level.  Most states are already screening, and with the addition of Texas a few days ago, about 85% of newborns in the US are being screened.  I lost my first granddaughter to SMA 9 years ago when she was 7 months old.  No treatment was available then.  There are now 3 FDA approved treatments, and proof that early treatment is critical for a profoundly improved prognosis.  Every day of delay in treatment makes a difference in the outcome.  Please improve and speed up the process for adding diseases to NBS in Virginia, once they are added to the RUSP.  If other states can do it, I know there’s a way that we can too.  Our newborns deserve the best chance they can get.

I strongly support and advocate for the regulation to implement infant screenings for SMA and X-ALD in the state of Virginia.

I want to support the addition of adding X-ALD and SMA to the VA newborn screening system. I am the mother of a child with a lifelong medical condition. Having a sick child is something no one will understand until it happens to them (and I wish it never does). It takes a toll on families in general, relationships and finances. A screening that could identify a debilitating disease that would enable treatment to start as early as possible should be the rule, not the exception. Let’s use science to save lives and give these sweet babies and their families hope for a bright future. If anything, please be empathetic and consider the addition  of the tests.

I have a family member named Brycen Hunter-Miles Jennings from Virginia that is 6 years old and because his family found out when he was a few months old that he was diagnosed with X-ALD, they were able to keep monitoring it with MRI’s and watching for signs and recently has undergone Gene Therapy in Minnesota to stop the progression and give hope for a long, healthy life. I strongly support having ALD added to the Newborn Screening in all 50 States.

There is no valid reason why it has taken this long for SMA to be added to the VA NBS. There have been FDA approved treatments for over 3 years that are able to turn a terminal diagnosis into one of hope with early treatment. For babies to wait months if not years for a diagnosis is literally playing with their lives. I have lost a child to SMA pre-treatments and have a 7 year old diagnosed via amnio & treated starting at 3 months that is thriving. I am so disappointed in my state for taking so long to get around to this when the majority of states had this implemented within 2 years of treatments being available. I fully support the addition of these diseases to the NBS and bringing hope to otherwise devastating diagnoses. 

Please add this as one of the screenings for newborns 

Many prayers Bryce 

I support the regulation to implement SMA in Virginia.