By any measure, Griffen Kingkiner and Eleanor Bolton are exceptional and accomplished young adults. Kingkiner, 22, earned a nearly perfect score on the Medical College Admission Test, the challenging standardized test for medical school admission. Bolton, 18, an advocate for people with disabilities, received a Morehead-Cain scholarship, a highly competitive merit scholarship that covers all expenses for four years of undergraduate study at the University of North Carolina at Chapel Hill.
These are remarkable achievements on their own, but the fact that both Kingkiner and Bolton have spinal muscular atrophy (SMA), a severely debilitating and often fatal genetic disease, makes their success even more extraordinary. Fortunately, both have received a new treatment that slows the disease, giving them a chance to live, grow and excel.
A Life-Changing Treatment for SMA
SMA is a disorder caused by gene mutations that result in muscle weakness and atrophy, leading to progressive loss of motor function. This can impair a person’s ability to walk, breathe and swallow. The disorder can affect any bodily function that requires muscle.
“The mutations decrease the amount of protein that is crucial to the survival of motor neurons, which are the nerve cells in the spine that signal to the muscle to make us strong,” says UNC Health pediatric neurologist Zheng (Jane) Fan, MD. “When they do not have enough of the protein, the neuron cells in their spinal cord get weaker and may die off. Patients over time lose these motor neurons and become weaker over time.”
SMA typically appears at birth or in the first few years of life. Those affected continue to lose motor function, nearly all need a wheelchair and many die.
“It’s the leading genetic cause of infant death and the second most common autosomal recessive genetic disease after cystic fibrosis,” Dr. Fan says. “It is a severe disease.”
Now, there is hope, thanks to a new treatment called Spinraza, a drug that increases the protein that is missing in people with SMA.
“With the help of Spinraza, the genes can increase the amount of protein to levels that can support the motor neurons, and with repeated use of Spinraza, patients can maintain an adequate level of motor neurons,” says UNC Health pediatric neurologist Yael Shiloh-Malawsky, MD.
Spinraza has changed the course of SMA.
“If treated early, before symptoms start, most of these patients can have normal milestones, normal development,” Dr. Shiloh-Malawsky says. “If treated later, after symptoms develop, most patients will stop having deterioration of their condition and may even gain some strength.”
Children need four loading doses of the drug in the first two months and a maintenance dose every four months after that.
Spinraza has prevented further loss of strength for numerous patients with SMA, including Kingkiner and Bolton. Kingkiner started the medication in February 2017, when he was 17, and Bolton started in November 2017, when she was 15.
“For Eleanor and Griffen, they gained some function back since their treatment,” Dr. Fan says. “With this treatment, we are able to change how the disease progresses.”
Growing Up with SMA
Bolton was diagnosed with SMA when she was 2 years old, and Kingkiner was diagnosed at 8. Both require a wheelchair to get around, but that has not stopped either of them from making extraordinary strides in the classroom.
Both say their experiences with SMA shaped their decisions about the career paths they wanted to pursue.
Bolton plans to study political science at UNC and hopes to use what she learns to advocate for disability legislation that would make schools more accessible.
“My whole life has been one big problem that I’ve been working on solving: how to navigate a world that wasn’t necessarily built with me in mind,” Bolton says.
To that end, Bolton conducted a peer-reviewed research project this year that explored how a broken elevator or an inaccessible gym in a school can hurt students with disabilities.
“That had a tremendous impact on me because I realized it has even more of an impact than I was aware of as a person with a disability,” Bolton says. “It’s really bad that a lot of the students across the United States do not have access to an education because of physical barriers that are in their way. I hope becoming more educated at Carolina can help me make a change.”
Kingkiner says spending nearly his entire life around doctors inspired him to become one himself.
“As a kid growing up, I was exposed to a lot of different doctors and a lot of medical procedures. I knew a good doctor could really make a huge difference in bringing up my mood and making sure I would actually do things that were good for me,” Kingkiner says. “I had a lot of respect for doctors and an interest in being a doctor my whole life, but I didn’t really know whether it was possible.”
Kingkiner discussed it with some of his doctors and decided to pursue degrees in biology and chemistry in college. He will be attending medical school at the University of Michigan.
“My doctors were all very encouraging, and that’s basically why I decided to do it,” Kingkiner says.
A Bright Future for Babies with SMA
Spinraza, the first treatment specifically for SMA, was approved December 2016. Zolgensma, the first gene therapy for SMA, was approved in May 2019. These treatments have revolutionized the course and future of patients with SMA. Studies have shown benefit in halting or stopping disease progression in patients who started treatment after the onset of symptoms, similar to the experiences of Bolton and Kingkiner.
For patients who carry the genetic variants but do not yet show signs of the disease, beginning treatment early has the potential to prevent symptoms from developing. The new treatments for SMA prompted an urgent need for early genetic testing and diagnosis of SMA before patients develop any weakness. Newborns and babies with SMA who receive disease-modifying treatments such as Spinraza or Zolgensma before the onset of symptoms show the best long-term results.
“For kids who start their treatment in infancy before the onset of weakness, they can have a normal life,” Dr. Fan says.
As of May 1, all newborns in North Carolina are being screened for SMA; more than 30 states conduct this screening.
“It is important for people to understand that early diagnosis and early treatment can really change the trajectory of this otherwise fatal genetic disease and enable the affected person to live a normal life,” Dr. Fan says.
To learn more about SMA, talk to your doctor. Don’t have a doctor? Find one near you.
Learn more about UNC Health pediatric neurology.