Revolutionizing care for a rare condition
Chris Smith remembers the exact moment he knew that Granger, his two-week old son, was in the best hands possible.
“He’d used the restroom on himself and Dr. Toupin reaches over, gets a diaper and wipes and cleans him up,” Chris said. “And right then I told my wife, ‘This guy’s different.’”
Granger was diagnosed with spinal muscular atrophy (SMA), a rare genetic condition that affects nerve cells called motor neurons.
All newborns in Kentucky are screened for SMA; about one in 10,000 are diagnosed with the condition each year in our state. Granger was Chris and Heather Smith’s third child but the only one born with SMA.
He was born at King’s Daughters in Ashland – now part of UK HealthCare – in 2019. But a couple days later, the family’s pediatrician urged them to go to UK Albert B. Chandler Hospital, citing results from the screening. A fear-filled drive from Greenup County eventually led their son to neurologists Dr. William Robertson and Dr. David Neil Toupin.
“At that point in time, when you Googled this, the only thing you’d see was death,” Dr. Toupin said. “That was the way this disease went for most people. It wasn’t widely known how patients did with these new treatments, but we reassured the Smith family that UK HealthCare has these new treatments to offer and that the data looks extremely promising.”
A glimmer of hope
Zolgensma, a gene therapy, is one such treatment. The U.S. Food and Drug Administration approved its use in children under two years old in May 2019, just a few months before Granger was born. If his family chose to remain with UK HealthCare, he would become the hospital’s first patient to receive the treatment.
At the time, UK HealthCare didn’t have a clinic dedicated to the administration and management of rare neurological diseases like SMA. Since then, Dr. Toupin has spearheaded the Neurology Evaluation and Management Optimization (NEMO) Clinic. But the Smiths had a big choice to make:
“Do you stay at UK or go somewhere that’s actually dealt with SMA?” Heather said. “Our first interactions with Dr. Toupin and Dr. Robertson, and all of the staff, were the main reason we decided to stay here.”
The insurance approval process for Zolgensma can be taxing on families. Granger’s care team was there every step of the way as they worked to get him approved for the treatment.
“I still remember where I was the night when I got the phone call. It was a three-way call with Dr. Robertson and Dr. Toupin that everything had been approved,” Heather said. “It was probably 8:30, 9 o’clock at night. Both of those guys were on the phone, and you could hear it. They were just as excited to have this treatment done as we were.”
Those diagnosed with SMA are missing a healthy gene in their motor neurons. Zolgensma works by delivering a healthy copy of that gene into the motor neurons of the spinal cord, which then produces the healthy protein throughout the body. It is administered one time through intravenous infusion.
At six-weeks old, Granger made history at UK HealthCare.
Life-changing results
Granger isn’t just growing up. He’s growing up with few of the SMA symptoms that – even a decade ago – might have presented and severely limited his ability to do so many of the things he loves; like chasing his older siblings, playing on the playground, or going on hunting trips with his dad.
“We have a lot more good days than bad days, so I’ll take it,” Heather said.
Early detection and treatment are incredibly impactful. Granger’s infusion was administered at six weeks old, at which point some neuron damage was irreversible. He has some muscle weakness that, had he received treatment sooner, might not be present.
“Healthwise, he’s doing great,” Dr. Toupin said. “I expect Granger to live a full life. He may need a little bit of help along the way, but I anticipate he’ll do well long-term.”
A movement grows
Granger and other kids like him are forever pioneers. Their lives aren’t just meaningful because they get to live them, but because they get to live them as walking monuments to the power of research-backed care. Their lives will make countless others better.
Granger has already had an immense impact. His parents have become outspoken advocates for SMA awareness and for the treatment received at UK HealthCare. Until recently, treatment for SMA was limited to larger, out-of-state health systems. Now out-of-state patients are seeking care in Lexington.
SMA care has been revolutionized by the three treatments currently available: Gene therapies (Zolgensma and Itvisma), nusinersen and risdiplam. At UK HealthCare, the two most significant advancements have been the creation of early treatment protocols/work groups for newly identified infants, and the development of the NEMO clinic for ongoing monitoring.
These advancements allow Dr. Toupin and his team to deliver outstanding, holistic care. Importantly, the framework created will allow the team to seamlessly integrate future SMA therapies as they become available.
Dr. Toupin has found unique ways to work with SMA patient families.
“Many of our SMA families are considering have more children, and there is a significant chance that those children may also have SMA. We are working closely with these families to optimize pregnancy and delivery planning to ensure rapid evaluation and treatment if needed. This will result in incredible outcomes — even by our current high standards,” he said.
For Dr. Toupin, Granger’s diagnosis was a crash course in what it would take to make SMA treatment possible in Kentucky. It made him more determined than ever to keep making a difference for Granger and kids like him.
“It was the moment that solidified my journey to treating this disease long-term,” Dr. Toupin said. “That interaction with him and his family helped get me there, because I realized how incredibly special this was, and that we had an opportunity to do this for them was just amazing .”
