In 2002, 13-year-old Helen Kearney had surgery to fix scoliosis, a condition that curves the spine. Her recovery took longer than expected, and she was experiencing shoulder pain. During physical therapy, her therapist noticed something unusual. He was not as worried about her shoulder as he was about how hard it was for her to do simple movements like standing up from the floor. These movements seemed harder than they should have been.

Helen’s physical therapist referred her to a doctor who specializes in movement disorders. After running tests, the doctor diagnosed her with Friedreich’s ataxia—a rare, genetic disease that slowly damages the nervous system. It affects coordination, balance, and muscle movement.

Now at 36 years old, Helen says that her life in Dunlavin, Ireland, is fulfilling, but when she was first diagnosed she did not understand how much the disease would change her life. “You hear words like ‘wheelchair’ and know it’s serious,” she says. “The wheelchair is helpful and the least of my concerns. It’s only over the past five years that I’ve fully understood that more can be lost.”

What Is Friedreich’s Ataxia?

The word ataxia can describe a symptom like poor coordination or balance. It is also used to describe a group of disorders that cause poor coordination or balance. David Lynch, MD, PhD, a neurologist at Children’s Hospital of Philadelphia, PA, and director of the Friedreich’s ataxia program, says Friedreich’s ataxia is different from most other types of ataxia because it usually affects walking first. Over time, it also affects the hands, speech, vision, and other parts of the body. It is called a multi-system disease because it can affect more than just the nervous system. About 20 percent of people with Friedreich’s ataxia develop diabetes. Around 50 percent of people develop heart problems and scoliosis.

Like many ataxias, Friedreich’s ataxia is a recessive genetic condition, meaning that a person inherits a damaged FXN gene from both parents. Jordi Magrané, PhD, an associate professor of research and neuroscience at Weill Cornell Medicine in New York, NY, explains that the FXN gene helps the body make a protein called frataxin and people who have Friedreich’s ataxia do not make enough frataxin.

Dr. Lynch explains that without enough frataxin, iron builds up inside cells, which increase harmful molecules called free radicals and interferes with energy production. Free radicals damage cells, especially nerve and heart cells, which leads to difficulty with walking, poor coordination, and heart disease.

Friedreich’s Ataxia Symptoms Can Be Different for Each Person

A damaged FXN gene is caused by repeated DNA letters called GAA repeats. People without Friedreich’s ataxia usually have seven to 20 repeats, but people with Friedreich’s ataxia can have anywhere from 60 to 2,000 repeats.

The more repeats a person has, the more severe the disease tends to be. Someone with fewer repeats might not be diagnosed until later in life. Someone with many repeats might be diagnosed as a young child. In general, the earlier the symptoms begin, the faster the disease progresses.

Friedreich’s Ataxia in Adolescence

As a teenager, Helen had trouble with walking and other movements, but she didn’t need a wheelchair yet and her symptoms were less obvious. She explains that people thought she was young and healthy and didn’t understand why she needed help. 

In her early 20s, Helen went to college and developed a passion for horses. She trained to become a world-class para equestrian dressage rider. She won three medals in the 2012 Summer Paralympics. Even as her disease progressed, Helen continued to train and ride horses several days a week. “Everything revolved around the horses, and for many years I rode six or seven days a week. I was ambitious, and the physical exercise was very useful in helping [slow] disease progression,” she reflects.

Dr. Lynch explains that exercise can be very helpful for people with Friedreich’s ataxia because it improves how the body’s cells make energy. Regular exercise can help people walk independently for a longer time.

Listen Now!

On the Brain & Life podcast, Helen shares about her Friedreich’s Ataxia diagnosis, how she connects with her horse, and her Paralympic experience.

Treatment Options and Research for Friedreich’s Ataxia 

There is no cure for Friedreich’s ataxia and current treatment options are limited. In the United States, there is one FDA-approved drug for people age 16 and older. The drug, omaveloxolone (Skyclarys), is not available to Helen in Ireland yet. She says, “[Omaveloxolone] is supposed to slow progression, and I would like to experience that stability so I can learn how to live the best version of myself with what I have.”

The drug helps slow the disease by protecting cells from damage caused by free radicals. “Patients improve a bit in their first year taking the drug, then they stabilize, and then they progress more slowly. While it is a good drug, it is far from a cure,” Dr. Lynch says.

Living with Friedreich’s Ataxia 

Now 23 years after her diagnosis, Helen continues to adapt. In her mid-20s, the scoliosis surgery she had as a child began to cause serious pain as Friedreich’s ataxia changed how she carried her weight. Starting in 2018, she had several more back surgeries. These surgeries helped in some ways but caused new challenges. Her pelvis was fused, which made it harder to bend and do daily tasks like putting on shoes, but it also helped her sit more steadily while riding a horse. “With Friedreich’s ataxia, you have to make the most of the things that are good and find ways around the bits that are bad,” she says.

As her hand coordination worsened, Helen and her parents worked together to help her stay as independent as possible. Her father, an engineer, designed a ceiling-mounted lift so she could keep riding horses.

Three years ago, Helen moved into a custom-built home near her parents. The house allows her to live semi-independently, even though she needs help with tasks like cooking, cleaning, and bathing. “Everything [in my body] still works, but nothing works well. I need in-house help because some things, like getting up by myself from a fall, have become impossible. It’s very hard to lose that independence,” she reflects. 

In late 2024, Helen decided to retire from competitive horseback riding. “Getting back on the horses after my surgeries was good for me physically and mentally because it meant everything wasn’t over. It was nice that I was able to decide to step back rather than having it forced on me.”

Helen adopted a service dog named Robin, who helps by picking up dropped items and retrieving objects for her. Robin is not fully trained; however, Helen views the learning curve with humor. “In some ways, being clumsy can be depressing, but having Robin pick things up and see her get excited when I get excited turns a hard thing into something fun.”

Researchers continue to study Friedreich’s ataxia and are exploring ways to increase frataxin, protect nerve cells, and possibly slow or reverse the disease. Dr. Magrané believes that earlier diagnosis could one day allow treatment before serious damage occurs.

While Helen holds out hope for future treatments, she remains committed to living fully right now. “There is still a way to live a life that is different than what you thought, even though it can be hard. It’s okay to be upset, but you can find a way to live and do something meaningful.”