Bella, a 15-year-old in Fort Worth, Texas, loves jellyfish, horses, anime, Billie Eilish, reading sci-fi and fantasy, and making art. But living with Friedreich’s ataxia (FA) makes it hard for her to engage in some of her favorite activities. “I can draw and paint for only a few minutes before my hand starts to hurt, so I usually take a break and then start again,” Bella says.
What is FA?
Named after Nikolaus Friedreich, a German physician who first described it in 1863, about one in 50,000 people worldwide have FA. It impacts mainly the spinal cord and nerves that connect it to the muscles and sensory organs (eyes, ears, nose, tongue and skin). The part of the brain that helps with movement, the cerebellum, also is affected, but not the parts related to mental functioning.
FA usually is not apparent in young children. It often is diagnosed between ages 10 and 15, although it has been found in kids as young as 2 and in adults.
The first signs of FA typically are trouble with balance and coordination. “Kids with FA also could have a loss of reflexes and abnormal coordination in the legs,” says David Lynch, MD, PhD, a neurologist at Children’s Hospital of Philadelphia and director of its Friedreich’s Ataxia Program.
The disease generally progresses slowly, over decades, and the sequence and severity of symptoms vary among individuals. After several years, speech can become slurred or jerky. Difficulty swallowing, loss of touch sensation, and lack of coordination in the arms and hands are not uncommon. About two-thirds of those with FA develop scoliosis, or curvature of the spine. About half experience cardiac defects, from the mild to the life-threatening, with heart failure the chief cause of death in FA.
The first step to diagnosing FA is a blood test. Many people with FA have a severe lack of frataxin, a protein that helps regulate iron levels. Without enough frataxin, the mitochondria, a crucial energy source found in most of the body’s cells, become damaged. Genetic testing is the only way to reach a definite diagnosis of FA.
It took several years for Bella to get there. “She met all the developmental milestones as a baby and toddler,” says her mother, Cassandra Smith. When she was in elementary school, her family noticed she was “walking clumsily, as if she was drunk.” At age 9, an X-ray for an unrelated reason revealed that she had scoliosis. But Bella’s blood test came back normal, and an MRI didn’t find any changes in the cerebellum that would explain her trouble walking.
Still, Bella’s symptoms persisted, and even worsened. In middle school, a physical therapist suggested she wear leg braces. By the time she was 13, she lacked reflexes in her legs and feet. That’s when the tests that point to nerve damage — nerve conduction velocity (NCV) and electromyography (EMG) — suggested she had FA. A genetic test confirmed it.
Living with FA
Getting a diagnosis of FA is important, because it helps doctors determine the best treatment. “The sooner you find out, the better the response to therapy most likely,” Dr. Lynch says.
Treatment usually involves physical and occupational therapy, which can help maintain coordination and strength as long as possible. “Most people with FA retain strength in their legs, so they can still exercise them, plus their upper extremities. And it’s important to keep standing to protect the bones,” Dr. Lynch says.
“The most challenging thing for me right now is not being able to walk that well,” Bella says. She uses a wheelchair when she’s at school and in public. “I try not to let it get me down. I can still pick up a book and read, and I hang out and have fun with my friends. Just because I’m disabled doesn’t mean I can’t do anything or that you have to treat me like I’m fragile. I just need to make a few adjustments, and I need help.”
When Bella doesn’t use her wheelchair, she walks holding onto someone. Her siblings are often there to support her. She also has a service dog in training, a goldendoodle named Oliver, who picks things up and opens doors for her. “She’s trying to maintain her independence as much as possible,” Cassandra says.
Dr. Lynch urges people with FA, especially teens, to avoid becoming isolated. Staying involved with family and friends, as well as with the FA community, including local support groups and national fundraisers, are among the ways Bella and her family stay connected to others.
Bella is both realistic and unsure about the future. “Eventually I won’t be able to walk at all, but I don’t really know how it will be,” she says. “I guess I’d like to go to college. But I don’t really think about the future. I like to just live in the moment.”
Cassandra is thinking of the future and hoping for new treatments and a cure. In the meantime, she wants Bella to accomplish all she can and feel proud of it.
Fortunately, support for FA research is growing. “A large number of companies are performing clinical trials in FA drugs, and three to four are active in all phases of research,” says Dr. Lynch.
This progress is thanks to research done in the past decade and beyond that revealed the genetic cause and how the disease affects the body. “We’re now in our 18th year of a natural history study. This has led to advances in drug development, leading to agents such as omaveloxolone, which is being weighed by the FDA [US Food and Drug Administration] for approval.” Designated by the FDA as an orphan drug, omaveloxolone works on the level of the mitochondria to improve motor function. Dr. Lynch encourages people with FA to participate in research studies whenever possible.