By Debra Schaefer
Schaefer is the grandmother of two granddaughters born with spinal muscular atrophy (SMA) type I. Schaefer testified before the Virginia Newborn Screening Advisory Committee to advocate for newborn screenings for SMA. She lives in Spotsylvania County.
“Grandmother” is a title I’m proud to have received in my life and one I do not take for granted. My first granddaughter, Madison, tragically passed away at just seven months of age after being diagnosed with the leading genetic cause of death for infants— spinal muscular atrophy (SMA) type I. On November 15th, the Virginia Newborn Screening Advisory Committee unanimously voted to screen all newborns in the state for this debilitating and devastating disease.
This vote means that children with SMA will have a chance to live the life that Madison did not get to lead— a healthy one. These screenings diagnose SMA before infants show symptoms, which can significantly impact their quality of life. Without immediate treatment, infants with SMA begin irreversibly losing motor neurons. As a neurodegenerative disease, SMA quickly robs infants and children of physical strength, and many lose the ability to walk, breathe and swallow on their own. There is no cure for SMA.
Just three months after birth, babies with SMA type I will lose over 50 percent of the nerves that regulate their basic functions, and research shows babies with SMA type I typically face on average 3.6 months of diagnostic delays. By the time these babies receive a diagnosis, they will already have life-altering, irreversible physical limitations. Babies with SMA type I who do not receive early diagnosis and treatment will likely be confined to a wheelchair their entire life and may never be able to breathe unassisted. These delays leave many families feeling hopeless and helpless that their children will ever have a healthy life.
My second granddaughter, Bailey, was also diagnosed with SMA type I, but she is now a healthy and thriving four-year-old. Bailey was diagnosed in utero and was therefore able to receive an experimental treatment, which is now approved, at three months of age. Bailey could be diagnosed because our family already had experience with SMA, but for families and physicians unfamiliar with the disease, early indicators may be missed. By voting to add newborn screenings for SMA and immediately implementing these screenings, Virginia will now help prevent irreversible disabilities or even death for babies in our state born with SMA. With these newborn screenings, all children in our state will receive the same opportunity that Bailey had.
In 2016, the U.S. Food and Drug Administration (FDA) approved the first treatment for SMA and since then, families impacted by this disease have new hope that their children can achieve previously unimaginable progress. Before starting on medicine to treat SMA, Bailey had already lost movement in her legs and could no longer lift her arms or hold up her head. Now, she is able to sit without support and propel herself in her wheelchair. She’s also able to get into typical four-year-old mischief — including wheeling herself over to the candy shelf to grab whatever she has her eye on. This mischief would be frustrating for most families, but it’s an experience we were never able to have with Madison and feel blessed to have now with Bailey.
Without Madison’s diagnosis, we might not have Bailey. With the addition of SMA to newborn screening, Virginia is helping to prevent irreversible disabilities from impacting the lives of infants and their families. Now, Bailey is flourishing because of her early treatment. Every child deserves a chance to live a healthy life, and every family deserves to see their child or grandchild live beyond just seven months. Through newborn screenings, Virginia can now save children’s lives, preserve their quality of life and allow them to reach important milestones, like grabbing their favorite candy off the shelf.