Kris Ewing looked in the mirror, raised his arm, and did something he had never been able to do his entire 18 years:
Comb his hair.
Then he brushed his teeth – another first.
And, marking another milestone in personal freedom, Kris was able to turn the knob on the front door of his house.
These movements, so mindless for the able bodied, have been life-changing for Kris, who was born with the inherited motor neuron disease Spinal Muscular Atrophy (SMA).
Kris has his care team at CHOC to thank for his dramatic improvement in quality of life after he joined a clinical trial that involves an investigational device that delivers medication into the fluid surrounding his spinal cord.
“CHOC has literally helped me live,” says Kris, who had more than 100 CHOC Research Institute staff rising to their feet in applause after he discussed his treatment at an April 2024 presentation by his neurosurgeon, Dr. Michael Muhonen.
“I have more strength and dexterity in my hands,” Kris says. “I have increased respiratory function. I’ve seen improvements every day.”
A first for CHOC
The device Kris is using is called the ThecaFlex DRx, which the Food and Drug Administration (FDA) approved for clinical trials in 2023.
In development for more than five years by Alcyone, Inc., with critical assistance and input from Dr. Muhonen, it’s an implantable port and catheter system that in Kris’ case is used to inject the medication Spinraza into his cerebrospinal fluid.
People with SMA lack a protein that makes neurons work in their spinal cord and brain. Spinraza stimulates the production of this missing motor neuron protein.
The ThecaFlex potentially is a game-changing alternative to much-more grueling, time-consuming, and less-precise lumbar punctures (spinal taps) that have been the standard of care for SMA patients, Dr. Muhonen says.
Kris became the first patient in California and only the fifth in the U.S. to be implanted with the ThecaFlex port.
He experienced dramatic improvements after his fourth injection of Spinraza and hopes to see more progress following the injections he continues to receive every four weeks.
“I’m so proud of him – you have no idea,” says Kris’ grandmother and caretaker, Pamela Ewing, who beamed as she watched her grandson speak before CHOC researchers.
“I’ve been blessed 100 percent with this special person in my life.”
SMA2 is a severe hereditary disease
SMA, the second most common severe hereditary disease of infancy and childhood after cystic fibrosis, is caused by a mutation of a gene.
Kris has SMA type 2 (SMA2), whose symptoms include decreased muscle tone and worsening muscle weakness that typically affects legs more than arms.
Children with SMA2 may be able to sit up but can’t walk. Around 70% of people with SMA2 will survive until 25, with some living into their 30s. Respiratory issues are the major cause of death.
Kris can sit up in his wheelchair because of multiple back surgeries. Two metal rods running from the base of his skull to his tailbone hold his spine up.
Supportive care for SMA2 patients includes mechanical ventilation, respiratory therapy, feeding support, physical and occupational therapy, and assistive devices for mobility and communication.
A new way to deliver Spinraza
Now 19, Kris was diagnosed with SMA2 at age 2 after appearing “floppy” and being unable to crawl or even roll over and not eating well.
After visits to several doctors and no answers, Pamela, while commuting to work on a train one day, was urged by a co-worker at USC, a physician and biochemist, to have Kris undergo a genetic test.
Since his diagnosis, Kris has been in and out of CHOC at Mission Hospital. At age 4, he was hospitalized there for six months when his lungs collapsed after catching the flu at school. He has been treated at other pediatric hospitals and, more recently, CHOC’s main campus in Orange.
Up until four years ago, Kris was able to receive Spinraza via spinal taps until extensive scarring, metal rods in the back and severe back curvatureno longer made that possible. After that, he took an oral medication but says it didn’t help much.
So, Kris was understandably thrilled when, on Dec. 27, 2023, Dr. Muhonen contacted him about the ThecaFlex clinical trial.
“Christmas miracle, right?” Kris says.
Spinraza, he adds, works great.
“I just feel different,” says Kris. “I feel that my body is healing and is trying to work more properly.”
Dr. Muhonen has implanted the ThecaFlex device in a second SMA patient and says he hopes to enroll 10 CHOC patients in the study, which is underway at four sites including CHOC. There are plans to enroll a total of 90 patients at 30pediatric hospitals around the world if study results continue to look promising.
“The beauty of this new device is we can put it right next to the spinal cord,” Dr. Muhonen explains. “With a traditional spinal tap, it’s more scattershot. With this device, we’re able to better localize the medication.”
And the Spinraza injections only take a few minutes, compared to potentially hours – and more post-procedure discomfort and exposure to radiation with CT-guided lumbar punctures, he says.
CHOC Research yields real-life results
Virginia Allhusen, manager of health sciences at the CHOC Neuroscience Institute, was one of the 100-plus people who saw Kris speak at CHOC.
“It was really inspirational to see a real-life example of all the good work that CHOC Research is doing,” Virginia says.
Charlotte Lynskey, a clinical research coordinator who helped shepherd the ThecaFlex through the research approval process at CHOC and worked closely with Kris and his family, predicts the device will improve the quality of life for SMA patients.
“It’s so exciting to see this device coming to a community of patients,” Charlotte says. “To see our clinical trial site activated and Kris receiving the infusions really has been meaningful for me.”
Nurses and other staff members at CHOC’s Outpatient Infusion Center also care for Kris.
“It’s just very special to see all of this come to fruition,” Charlotte adds. “They are such a lovely family to work with — such resilient and charismatic individuals. They have a beautiful, loving relationship and amazing attitudes.”
Spinal Muscular Atrophy limits movements
Pamela says her continued goal is to provide Kris with the best opportunities in life.
“Kris is not disabled,” she declares. “He’s Kris – he can do whatever he wants.”
Indeed, one of the most difficult challenges when out in public is having people ignore him, Kris says.
“People don’t want to talk to me,” Kris says. “They have the notion that my legs don’t work, so my brain mustn’t either.”
SMA doesn’t affect intelligence.
“There are so many challenges I face day to day,” Kris says. “The only way to know what it’s like is to go around in my wheelchair and experience what I do. But I’m a normal person. I just have health issues and can’t do some things.”
Supporting other SMA patients
With his improved hand movements, Kris has taken up bead jewelry. He recently made a necklace for a friend.
He graduated with honors from Dana Hills High School and is studying creative writing at Saddleback College.
Kris watches the Turner Classic Movies channel frequently. Among his favorite flicks are “A Patch of Blue” with Sidney Poitier and “The Adventures of Robin Hood” with Errol Flynn.
He’s also a huge fan of TV’s “M*A*S*H.”
Kris would love to speak to other SMAs patients about Spinraza and the ThecaFlex device.
“I feel it’s my duty,” he says. “If anyone has questions, I’ll be happy to put in my two cents.”
Just like he did before CHOC researchers.
“I thought it would be good for them to see a CHOC kid all grown up,” he recalls with a smile.
CHOC Hospital was named one of the nation’s best children’s hospitals by U.S. News & World Report in its 2024-25 Best Children’s Hospitals rankings and ranked in the neurology/neurosurgery specialty.
