Action | Amend Regulations to add SMA and X-ALD to the Virginia Newborn Screening System |
Stage | Proposed |
Comment Period | Ended on 7/9/2021 |
As a genetic counselor serving families affected by SMA, I strongly endorse the addition of these conditions to newborn screening in Virginia. Rapid identification of children with SMA is key to ensuring effective treatment. The sooner children are treated, the better the outcomes. Before an effective therapy for SMA was developed in 2016, children were unable to walk and relied on respirators to breathe within less than a year of birth. Spinraza, Zolgensma and now Risdiplam are lifesaving therapies that allow these children to play, sit, breathe, and even walk independently. Risdiplam is an oral medication, making it more accessible than spinal injections of Spinraza or Zolgensma. More improvements in therapy accessibility are likely to come in the near future. With the high efficacy and increasing accessibility of SMA therapies, we must give kids born with SMA in Virginia the best chance at life by detecting SMA as early as possible. It’s my honor to serve these families. Adding these conditions to newborn screening would allow providers such as myself to provide the best care possible for families here in Virginia.