Title reads, "Beacon of Hope." The word "hope" has photos inside them of children (Cinch Wight and Evie Lewis), parents (Whit and Lindsay Coleman), and a physician-scientist (Russell Butterfield, MD, PhD).

Spinal Muscular Atrophy was the top genetic killer of infants. Parents went from the joy of a newborn baby to losing their toddler before they were three years old. 

Close ups of three toddlers: Jonas Coleman, Maggie Coleman, and Blakely Lewis looking at the camera. Their pictures are in black and white.

But in December 2016, gene therapy stopped SMA in its tracks. Infants who received those revolutionary treatments now live life to the fullest at home, at school and at play. 

Color photos of two school age children. Evie Lewis is sitting cross-legged on the floor next to a drawing. Cinch Wight is standing, smiling, and sucking a lollipop.

With the advent of gene therapy, the future of untreatable genetic diseases will never be the same.

Whit Coleman married his high school sweetheart, Lindsey Mathie, in their early 20s. In late 2007, the Salt Lake City-based couple had a son, Jonas. A week after his birth, Whit, a pediatric nurse, noticed Jonas wasnt reaching developmental milestones.

Their pediatrician ordered Jonas a swallow test, which revealed an alarming lack of muscle control that was impacting his ability to keep his airway clear of food. A feeding tube was inserted into and down his nose to his stomach.

There were two initial diagnoses: either infantile botulism, which Whit knew was curable, or a neuromuscular condition he knew nothing about called Spinal Muscular Atrophy.

They went to see Kathy Swoboda, MD, a specialist in inherited neuromuscular diseases and movement disorders at University of Utah Health and Intermountain Primary Childrens Hospital. As they waited, another staff member advised them not to Google SMA. That was the first thing they did. What they learned was terrifying:

Infants with SMA rarely made it past three years old, dying from paralysis as their muscles wasted away. It was the leading genetic cause of infant death in the country.

Swoboda confirmed Jonas had SMA. Both parents were carriers of the gene that caused SMA, which meant they had a one in four chance of having a baby with the fatal disease.

Lindsey was distraught. “Bad things never happen in my world,” she thought.

Through that long night as Jonas slept, she cried on Whit’s shoulder, repeating again and again, “It can’t be. This can’t be. It just can’t be.”

Whit and Lindsey Coleman are sitting next to each other on the couch deep in conversation. They look sad.

By the time Jonas was one year old, he couldn’t sit up on his own, play by himself, or control his head movements.

A close up of Jonas Coleman looking at the camera and smiling.

He communicated by blinking once for yes, twice for no. Breathing exhausted him, and the Colemans always had a BiPAP breathing machine on hand to ensure he had adequate oxygen.

Whit and Lindsey were both struck by how Jonas seemed to have a maturity beyond his years. They felt sometimes as if he were trying to help them cope with his plight.

They took him to Disneyland in a specially modified van, and also to Lake Powell with his cousins so he could experience the lake’s waters, the sun on his skin, and, for a few weeks at least, the pleasures of childhood. As Jonas’ third birthday approached, he changed.

“I can see the light fading from his eyes,” Lindsey told Whit.

Jonas caught a cold and needed antibiotics and intubation to survive, but his parents felt he had had enough. They believed he wanted them to let him go.

After excruciating days and nights of struggling to decide the right thing to do, Whit and Lindsey reached a decision. They took off his BiPAP support and, within moments, their two-year-old was gone.

Brave new world

Fifteen years after Jonas Coleman’s death, a five-year-old boy ran up to an enormous window and gazed into a world of sharks and tortoises lazily swimming by. He was born with SMA, received a new type of treatment days after his birth, and has never displayed a single symptom. Children like him, who have received gene therapy for SMA, are beneficiaries of a revolution driven by a union of science, research, and medicine.

The boy was at a local aquarium where an annual family celebration was being thrown by the Utah Program for Inherited Neuromuscular Disorders (UPIN). UPIN works with families to research and treat inherited nerve or muscle disorders.

The program’s director, Russ Butterfield, MD, PhD, a specialist at U of U Health and Intermountain Primary Children’s Hospital, put up a series of slides that cited recent U.S. Food & Drug Administration approval of treatments for genetic diseases.

“When I used to do these slides, the treatments were so far away,” Butterfield told the room. “Now we can’t keep up with them.”

Among the newly approved gene therapies was Elevidys for four- and five-year-old boys with Duchenne muscular dystrophy (DMD); a new genetic therapy for Amyotrophic Lateral Sclerosis (ALS); a new treatment for the spinal cord nerve degenerative disease Friedreich’s ataxia; and a new steroid treatment for DMD approved that very week. As many as 60 new gene and cell therapies were expected to debut by 2030.

Butterfield compared the escalation in new treatments to the rollout of antibiotics 100 years ago. One day there was nothing, the next a life-saving drug that vanquished bacterial infection. Gene therapy is the same kind of game-changer.

Unlike surgery or traditional medications, gene therapy is new kind of treatment that modifies a person’s genes to treat disease. Two gene therapies offered an answer to the tragedy of children’s lives cut short by SMA. UPIN was one of a handful of centers in the country to research, test, and ultimately administer them. While not cures, these therapies stave off life-shattering and, finally, fatal symptoms of the disease. This dramatic success has made SMA the poster child for the potential of gene therapy.

Brave new world

Fifteen years after Jonas Coleman’s death, a five-year-old boy ran up to an enormous window and gazed into a world of sharks and tortoises lazily swimming by. He was born with SMA, received a new type of treatment days after his birth, and has never displayed a single symptom. Children like him, who have received gene therapy for SMA, are beneficiaries of a revolution driven by a union of science, research, and medicine.

The boy was at a local aquarium where an annual family celebration was being thrown by the Utah Program for Inherited Neuromuscular Disorders (UPIN). UPIN works with families to research and treat inherited nerve or muscle disorders.

The program’s director, Russ Butterfield, MD, PhD, a specialist at U of U Health and Intermountain Primary Children’s Hospital, put up a series of slides that cited recent U.S. Food & Drug Administration approval of treatments for genetic diseases.

“When I used to do these slides, the treatments were so far away,” Butterfield told the room. “Now we can’t keep up with them.”

Among the newly approved gene therapies was Elevidys for four- and five-year-old boys with Duchenne muscular dystrophy (DMD); a new genetic therapy for Amyotrophic Lateral Sclerosis (ALS); a new treatment for the spinal cord nerve degenerative disease Friedreich’s ataxia; and a new steroid treatment for DMD approved that very week. As many as 60 new gene and cell therapies were expected to debut by 2030.

Butterfield compared the escalation in new treatments to the rollout of antibiotics 100 years ago. One day there was nothing, the next a life-saving drug that vanquished bacterial infection. Gene therapy is the same kind of game-changer.

Unlike surgery or traditional medications, gene therapy is a new kind of treatment that modifies a person’s genes to treat disease. Two gene therapies offered an answer to the tragedy of children’s lives cut short by SMA. UPIN was one of a handful of centers in the country to research, test, and ultimately administer them. While not cures, these therapies stave off life-shattering and, finally, fatal symptoms of the disease. This dramatic success has made SMA the poster child for the potential of gene therapy.

“Stay tuned,” Butterfield said to the patients and their families. “Gene therapy’s really the new world.”

Russel Butterfield, MD, PhD, is standing on a stairway looking down at the camera with his arms folded.

“In the game”

Butterfield has always been drawn to the promise of gene therapy. As a Utah college student, he wrote a paper about how the treatment might one day provide a cure for cancer.

If there was a place in America to pursue that promise, Butterfield’s home state of Utah—with its lengthy history in genetics—was definitely a candidate. At that time, Utah scientists had discovered more human disease genes—breast cancer and colon cancer among them—than any other state in the nation.

Butterfield is the first to acknowledge he stands on the shoulders of those who came before him, including Jonas Coleman’s doctor, Kathy Swoboda, MD, who had been a neurogenetics specialist at Massachusetts General Hospital.

A headshot of Katherine Swoboda, MD. She is wearing glasses and smiling.

Kathy Swoboda, MD, dedicated much of her career to treating, researching, and launching clinical trials for SMA. Her legacy includes co-founding in 2004 the Project Cure SMA Network, a group of investigators that designed and implemented novel treatment approaches for the disease. 

Kathy Swoboda, MD, dedicated much of her career to treating and researching SMA. Her legacy includes co-launching in 2004 the Project Cure SMA Network, a group of investigators who designed and implemented novel treatment approaches for the disease. 

Swoboda came to U of U Health and Intermountain Primary Children’s Hospital in 1998 and cared for every baby with a neuromuscular disorder that came through their pediatric clinic. Starting in 2002, SMA was the major focus of her research and clinical work.

At Primary Children’s, Swoboda cared for families who often continued to have more children after having a child with SMA. This meant she could use a recently developed genetic test to determine whether younger siblings also inherited the disease.

The more babies Swoboda diagnosed, the clearer it became that there was a crucial window of opportunity for intervention. That critical time was during the first weeks of life, before symptoms began to emerge.

With that in mind, Swoboda scoured the country for clinical trials targeting SMA. Among the few she found was one that tested valproic acid—used for epilepsy and mental health conditions. Jonas took part in the valproic acid trial, but it had little effect.

Butterfield became a child neurology resident at the University of Utah and Primary Children’s in 2004. Seven years later, he finished his fellowship and started working with Swoboda, signing up for every trial they encountered.

“You’ve got to be in the game and know what’s coming,” Butterfield said.

How do you say goodbye?

In August 2010—a year after Whit and Lindsey’s son Jonas had died of SMA—Swoboda asked Whit to join her team as a nurse researcher. In that role, he glimpsed what other families were going through, some worse off than his family, some with better luck.

Whit’s lived experiences meant that he was gathering data and filling prescriptions for children with SMA—but he was also offering a gentle ear to grief-stricken parents. One family that came to him for help was Elliot and Janell Lewis.

After Janell gave birth to their first child, Blakely, in 2011, they quickly realized she wasn’t meeting her milestones. When she started having breathing difficulties, a doctor diagnosed Blakely with SMA.

A close up of a mother, Janell Lewis, wiping a tear from her eye.

Overnight, the Lewis expectations, their plans—their very life, it felt like—vanished.

A close up of a father, Eliot Lewis, in conversation, looking concerned.

Their cozy nursery morphed into a medical unit, with a Cough Assist suction unit, a pulse oximeter, and a BiPAP. Doctors surgically inserted a gastric feeding tube into Blakely’s stomach.

Blakely had both a zest for life and a pronounced enjoyment of the slapstick pain of others. She’d laugh if you stubbed your toe and cursed, or think it the funniest thing when a character was smushed in a Tinkerbell movie.

By the time she was 18 months old, she could only move her pincer fingers and her eyes. Even so, she’d let you know when she was happy—and when she wasn’t. In a room full of gifts for her first birthday, she laid on an ottoman, squealing with joy. Put the wrong DVD on and she’d look away until you got the message.

A video by Elliot Lewis shows his daughter Blakely at 21 months old, shortly before she died from SMA.

A video by Elliot Lewis shows his daughter Blakely at 21 months old, shortly before she died from SMA.

In Spring 2013, Blakely’s breathing collapsed due to a respiratory infection. By Blakely’s sixth day in hospital, “her little body had had enough,” said her father, Elliot.

Both parents opposed intubation, but as Blakely deteriorated, the decision whether to intubate or not grew only more pressing. Finally, on March 26, they withdrew the BiPAP, and while Janell held Blakely in her arms, she died.

Slipping away

Jonas father, Whit, felt it an honor to support Janell and Elliot during Blakelys decline—and to aid other families who were going through the same experience. But even he reached his limit. At home, he was struggling with his own losses from SMA.

If Whit’s first child Jonas had been a dove, then his second child, Maggie, was a hummingbird. Like Jonas, she also had SMA. Despite her limitations, she wanted to see and do everything. She was feisty with a combative passion that seemed so much bigger than her disease.

She couldn’t sit up on her own, but she controlled her head movements and didn’t need as much help with breathing as some other children with SMA. She made sounds as if she were trying to talk to her parents, even if she couldn’t quite form the words.

Maggie Coleman is sitting next to an aquarium window and is smiling.

Despite limitations in her ability to move, Maggie wanted to see and do everything. She died with SMA at the age of three.

Despite limitations in her ability to move, Maggie wanted to see and do everything. She died with SMA at the age of three.

On October 17, 2013, shortly after Maggie’s third birthday, she caught what her parents thought was a cold. They took her to the hospital but, to their disbelief, Maggie started to slip away. To her mother Lindsey, it seemed Maggie was saying, “I’m tired of this, I don’t like to be sick.” Ever a force of nature, Maggie left on her own terms.

Whit quit working for Swoboda shortly after. It all felt too close to home.

The promise of revolution

In Summer 2015, Swoboda left Utah for a senior position at Massachusetts General Hospital. Under the umbrella of the then newly formed UPIN, Russ Butterfield, MD, and his research partner Nick Johnson, MD, took over several phase 3 trials for a genetic therapy known as Spinraza.

One trial focused on SMA patients who had already developed symptoms, the other on pre-symptomatic SMA patients.

Spinraza went directly to the genetic root of the disease, activating a backup gene, SMN2, that can compensate for the absent SMN1 gene. It was a transient treatment, administered by spinal tap three times a year. For Butterfield, this was a kind of gene-based therapy he’d dreamed of in college.

The initial results from Spinraza looked promising. When given to children who had already developed SMA symptoms, the treatment slowed the disease’s progress and improved their movement and strength.

Symptomatic patients who had been motionless and silent were able to sit up, drive a wheelchair, and even vocalize. Butterfield marveled when one of the trial participants sang a short song.

If those results felt revolutionary, the next clinical trial delivered that revolution. Infants who received treatment much earlier—before disease symptoms started—were able to meet normal developmental milestones.

Ultimately, 23 of the 25 infants given the treatment within days to weeks after birth were eventually able to walk independently, something that children with untreated SMA could never do.

A graph shows that giving gene therapy to children with SMA helps them recover their ability to move.

Infants with SMA* who were treated with Spinraza (green) reached movement milestones—such as rolling, crawling, and walking—but not as quickly as children who did not have SMA (purple). Infants with SMA who did not receive treatment had little mobility (orange). *Treated children had two copies of the SMN2 gene. Neuromuscular Disorders 29 (2019) 842–856.

Infants with SMA* who were treated with Spinraza (green) reached movement milestones—such as rolling, crawling, and walking—but not as quickly as children who did not have SMA (purple). Infants with SMA who did not receive treatment had little mobility (orange). *Treated children had two copies of the SMN2 gene. Neuromuscular Disorders 29 (2019) 842–856.

As 2016 headed toward a close, Janell and Elliot Lewis had conceived a second child, three years after the death of their first daughter Blakely. Through an amniocentesis test, they learned that their fetus had SMA. They signed up for clinical trials testing the genetic therapy, Spinraza, but didn’t have high hopes.

“I’ll be thrilled if she holds her head up,” Janell told Butterfield. That was something Blakely had never done.

Perhaps she might crawl, or even breathe on her own. And a longer life span? They would take whatever they could get.

“Muscle juice”

December 23, 2016, fell on a Friday. Staff were gearing up for the holidays. And then a bombshell hit: the FDA had approved the SMA genetic therapy Spinraza for commercial use.

UPIN staff were stunned. Its approval was faster than anyone expected. They had nothing in place in the way of purchasing, insurance billing, or medical infrastructure to administer the treatment to their 60 eligible patients.

Along with addressing all these issues, Butterfield also had to field calls from desperate parents who had gone from the euphoria of learning of the FDA’s decision to the agony of having to wait day after day, week after week, while UPIN scrambled to get everything in place to start administering doses of the new drug.

On March 6, 2017, Butterfield held the first baby in Utah to receive the drug commercially in one hand and the $125,000 Spinraza drug in a syringe in the other.

A baby with a death sentence and a drug that would give her life. It was a profound moment for everyone, including Butterfield.

As more infants came into the hospital for their first of four loading doses, in early April 2017 a new name was added to the list: Evie Snow Lewis, her middle name honoring her father Elliot’s passion for skiing.

Evie had a distinct advantage over other infants with SMA. Her disease had been diagnosed before she was born, giving her the chance to start treatment prior to the onset of symptoms. Her doctors and parents hoped to get Evie on Spinraza as soon as possible, but the medical and insurance infrastructure was still being worked out.

The resultant delays meant she didn’t get her first dose until day 12. By then, Evie had developed swallowing difficulties, which ultimately led to her needing a gastric tube surgically inserted through which a bolus of food was injected into her stomach every four hours.

She also developed a slight tremor in her hands and twitching in her tongue. Might they have been avoided if the drug had been available just days earlier, the Lewises wondered?

At 21 months old, Evie, who received gene therapy for SMA, can crawl, climb, walk, and hug. Video by Elliot Lewis.

At 21 months old, Evie, who received gene therapy for SMA, can crawl, climb, walk, and hug. Video by Elliot Lewis.

While Evie didn’t crawl until she was 16 months old, from there she started to clamber onto the sofa, push toys that supported walking, and, by 21 months, to walk.

In those first months, then years, to her astonished parents every single movement by their daughter seemed too good to be true. She was meeting normal developmental milestones, even if a little later than other children.

Evie looked forward to her triannual doses of what she called “muscle juice” as she grew up. “It’s just like when you go to get gas at the gas station,” she’d tell her parents. “You go when you need energy.”

Evie Lewis is driving a light blue child-sized toy jeep. She is smiling.

When Butterfield asked the Lewises what they needed to know about Evie’s future, they asked about life expectancy. “Pretty normal,” he said. “I expect her to live a full life.”

Evie is sitting on the couch giving a high-five to her mom. Her mom is giving her food through a feeding tube connected to her stomach..

A single shot

After the challenges of the commercial rollout of Spinraza in Utah, the debut of Zolgensma, a second SMA gene therapy, was more sedate. Yet the drug itself was in some ways an even more remarkable evolution in treatment. One of the first families to benefit from it was the Wights, who lived in Moroni, Utah.

Amber and Alex Wight married in late 2017, in their town’s old opera house. Alex worked for a farm and a coal mine while managing his own small herd of cows.

Amber got pregnant and gave birth to a son in late spring 2019.