Newborn Screening & Early Access to Treatment: The Rogers Family SMA Story

SMA testing was added to the federal Recommended Uniform Screening Panel (RUSP) in July 2018, but was not adopted in all 50 states until 2024.

Newborn screening plays a pivotal role in early diagnosis and the opportunity to begin the right treatment and access clinical care within weeks of birth, sometimes before symptoms have even presented or begun to cause damage. With the ever-evolving neuromuscular disease treatment landscape and the availability of therapies that were non-existent twenty years ago, newborn screening is the key to immediate detection and early, crucial access to treatment. For those born with SMA, this is especially true as new treatments are proven to be significantly more effective when administered within the first few weeks of life.

The development and approval of gene therapy (Zolgensma) and SMN2-Targeting medications (Spinraza and Evrysdi) served as a catalyst in advocates working to have SMA added to the newborn screening panel. First added to the federal Recommended Uniform Screening Panel (RUSP) in July 2018, SMA testing became universal across all 50 states in 2024. For families like the Rogers family, whose twin boys were born in 2019 in an early-adopter state, early diagnosis and access to treatment has played an instrumental part in navigating life with SMA.

The impact of early treatment

Heather and Doug Rogers knew prior to the premature birth of their twins, Matthew and Samuel, at 33 weeks that both parents were carriers for SMA. “We intended to have them tested anyway, however, the NICU let us know that there was great interest in the two of us and our twins because we already knew we were carriers from previous genetic testing and new treatment options had become available just months prior,” Heather says. “The treatment options were a surprise to us. We learned we were carriers in 2017 and Spinraza wasn’t highly publicized yet, because all we had found at that time was terminal information.”

Heather, who was already in the hospital due to complications at the time of delivery, shares that a charge nurse at the NICU and the neonatologist told them that SMA had recently been added to the newborn panel and they would manage the testing. Within two days, the parents were informed that the twins were both at least carriers and further testing confirmed an SMA Type 2 diagnosis two weeks later. Both neonatologists working with the family had researched treatment options prior to the boys’ birth and discussed Zolgensma and Spinraza as treatment options, sharing that Spinraza was the only option available at their local children’s hospital.

“Both neonatologists made sure they knew our options and they were extremely sympathetic,” Heather says. “One was more hopeful than the other, really leaning into Zolgensma. He had faith that the cost would be covered and that we would be able to get it. Honestly, we had a lot to consider, Zolgensma was new, there wasn’t a lot of data and absolutely nothing on kids treated prior to regression. We prayed over it pretty extensively. We prayed over the boys in a private and very intimate prayer time, and then those surrounding the boys prayed for us for God to guide us in the right direction.”

After a couple of months of prayer and research, the Rogers decided to seek treatment at the Children’s Hospital of Alabama to move forward with Zolgensma. The boys were treated on March 20, 2020, at a time when the world was shutting down. “They were just over six months actual age, four months adjusted (based on premature birth), and we had not experienced much, if any, regression. Their being tiny and preemies gave us some time for our research,” Heather says. “The timing was perfect for our situation, and ours alone. Every parent needs to weigh and consider every potential option and complication.”

Hitting milestones

The Rogers Twins.

Based on adjusted age for premature birth, the boys hit all of their milestones on time. Both boys were sitting up with support before receiving treatment at five months old, and one month post treatment they were sitting unassisted. “All of this was done with coaxing, per the recommendation of all the baby books,” Heather says. “All indications are once they began to do this, babies would primally seek to move more. That’s when we noticed the boys were watching us extremely closely, but instinct wasn’t exactly taking over.”

Starting treatment at the height of the Covid-19 lockdown presented some barriers. The twins were approved for therapy through their state’s early intervention program, but they couldn’t see their physical therapist in person for a period of time. Heather and Doug exchanged a multitude of text messages with the physical therapist, sharing concerns about their development before finally meeting with her in person. The therapist, who was familiar with children living with SMA, was ecstatic over the progress the boys were making and puzzled that Heather and Doug were so troubled.

“We told her we had to show the boys what to do. We were putting them on all fours to prep for crawling. We had to put things far away to make them reach and then show them how to reach, as in physically move their bodies,” Heather says. “But more than that, when we put them in their bounce seats, we had to bend their knees and genuinely teach them how to bounce their legs.” The therapist texted Heather about a week later and said, “It looks like movement to memory is going to have to be intellectual until it is instinctual.” Advice that didn’t fully resonate until the boys were almost three years old and learning to run.

“They hit every milestone until it came to running. Any idea how hard it is to communicate the concept of running in full flight?” Heather says. “We are working on it, but except for genuine full flight running (based on fatigue and attention span), our most recent evaluation has the boys at average or above average in all categories. So, we are now focusing on core strength and specific muscle groups.”

Growing and learning

Matthew and Samuel, who just turned seven, are mobile, active, adventurous boys. “They are mobile to the point of my exhaustion. I’m a fairly fit person, and they wear me out!” Heather says. “They can out swim me by about two hours easily. They are still the slowest on their soccer team… but y’all, they play soccer. God has provided them with grit unlike anything you’ve seen, and the drive of an Olympian. Despite their small stature, Matthew is probably going to break another bone trying to stop a ball from getting into his net this season. In short, they have full mobility and we’ve broken a bone with no loss of muscle tissue”

While the boys tend to get sick more often than other children their age, they have indominable spirits that Heather attributes to their own faith in Jesus. When describing their personalities, she says, “They love big, hard, and sometimes rough. They are boys, but as twins they are quite different. Matthew is analytical to the point that I think I should pull out my discrete mathematics books to stay ahead of him, but extremely caring and gentle. Samuel is full throttle with empathy in spades and sees the world through an artistic eye unlike anything I have ever seen. It is genuinely an absolute joy to watch them grow.”

For Heather and Doug, their Christian faith has been just as impactful in navigating life with SMA and raising two energetic twin boys. When reflecting on some of the greatest joys of parenting, Heather shares memories of the twins standing up for friends who have been bullied, living out their faith, working hard to move and play every day, and always putting others first. “Our deepest joy in the Lord,” she says. “We are thankful we get to be the parents of these two.”

The Rogers Twins playing at a creek.

Her advice to other parents is multifold. First and foremost, she advises others who are raising children with a neuromuscular disease to have faith. Accept the diagnosis, but not the prognosis – and then educate, educate, educate. Heather also stresses the importance of advocating. “I mean like a juggernaut through a brick wall,” she says. “Care about people’s feelings… but be spicy just enough that they want to help. Have a good sense of humor about it but let them know you mean business.” She sees the importance in carrying that sense of humor into daily life as well, advising others to “find humor. Not sarcastic humor. Genuine joy. Belly laughs at least once a day, because kids are cute and hysterical.”

Finding friends and family that support you is also an important aspect of the journey. “People who ask a thousand questions are probably safer than those who sit silently and blend into the background. Be patient with people willing to learn. This is your life, but they want to be part of it, teach them,” she says. “And kids are the best teachers by instinct because of their innocence. Emulate childlike curiosity, with the wisdom of being an adult. It will serve you well.”