September is Newborn Screening Awareness Month, a chance to talk about the progress we have made in getting spinal muscular atrophy (SMA) added to newborn screening panels and the work still to be done. This month, you will hear about newborn screening milestones, stories, and steps you can take to ensure all states screen newborns for SMA.
Like most people, Amanda DeVay welcomed in the new year with not only the excitement of a new decade, but ready to start life as a family of four. Amanda and her husband, Chris, live in a suburb outside of Syracuse, NY, and have two children—Christopher Jr. and Braedon. Braedon was born January 2020. Braedon received his routine tests and arrived home one day later. Everything felt complete and the family settled into their new normal.
One of the tests Braedon received was a newborn screening panel. With this, every newborn is tested for a group of health disorders that are not otherwise found at birth. It is a simple blood test, and doctors can check for conditions that can cause serious health problems. With many of these conditions, early detection is key, allowing a child to receive treatment as soon as possible, rather than waiting until symptoms start.
Six days after bringing Braedon home, Amanda received a call from the family’s pediatrician. They set up an appointment to review Braedon’s newborn screening results. “My heart sunk into my stomach. I knew something had to be wrong with Braedon’s newborn screening, and it had to have been something severe to want to talk to us about it in person,” Amanda reflected. At less than one week old, the pediatrician confirmed that Braedon had SMA.
Amanda was at a loss. No one in their family had ever heard of SMA prior to Braedon’s diagnosis. But the pediatrician was positive and emphasized the importance of early detection with SMA. “It’s absolutely crucial in the preservation of motor neurons that a child be diagnosed as soon as possible, and we were fortunate to have access to early treatment,” said Amanda.
At just 22 days old, Braedon was the first child at their Syracuse hospital to receive Zolgensma. “The hospital staff were so excited to be involved on his dosing day, and everyone made it a point to stop in and congratulate us,” recalled Amanda. She continued by sharing she felt relieved knowing Braedon had treatment options, and that they could choose the treatment that was right for them. “Not only could it save my son’s life and help stop the progression of the disease, it could also give him the chance to live his best life, and that gave us all the hope in the world.”
Braedon continues his physical therapy and specialist appointments, now virtually due to the COVID-19 pandemic. “We have seen incredible gains as far as his ability to move his arms and legs with a purpose, sit assisted, and hold up his head for short periods of time.” Amanda is happy with the endurance and strength Braedon has shown in such a short time.
Despite the 2018 recommendation by the U.S. Secretary of Health and Human Services to add SMA to state newborn screening panels, there are several states that are still not screening newborns for SMA.
“Early detection and early treatment are pivotal for a child with SMA in order for them to have the best chances of not only survival, but a fairly typical life,” emphasized Amanda. “I cannot stress enough how much Braedon’s newborn screening diagnosis not only saved his life, but has allowed us access to treatment early enough to make a difference and ensure he is living his very best life possible. I strongly believe all children and their families should have that same opportunity.”
Cure SMA has set up state-specific Action Alerts to allow residents of non-screening states to send personalized letters to state leaders in support of SMA newborn screening. Check out if your state has an action alert by clicking here.