Marinda, age 34, describes herself and her two siblings as the perfect example of birth order psychology. “I am the oldest one, gifted but a bit of a black sheep. My middle sister, Fiona, is the social butterfly, and Liam is the prized baby boy. He was just 9 years old when I moved away, so I was more like a crazy aunt to him.” Liam, now age 23, replies, “I thought Marinda was the coolest when I was a kid. And I didn’t even know her as well as I know her now.”
Liam got to know Marinda in a more profound way as these three siblings learned to live with their diagnoses of Friedreich’s ataxia (FA).
The journey to diagnosis
For this family, symptoms of FA first emerged in Fiona at the age of 16 when she began walking differently. Since Marinda was recovering from an unrelated illness at the time that also affected her gait, some people speculated Fiona was simply acting out and looking for attention. “Everyone thought she was either drunk or just not telling the truth,” says Liam.
The onset of symptoms can vary widely with FA, though most people affected will have trouble with balance as well as a loss of coordination, sensation in arms and legs, vision, and hearing. In addition to significant cardiac symptoms that can lead to premature death, most individuals with FA also live with extreme fatigue.
Marinda, who was 25 at the time of her sister’s diagnosis, was told to get tested as well. She already had balance and coordination issues, along with scoliosis – which is often associated with FA – as a child. “When I learned I was positive for FA, I had a full meltdown. What I read online was terrifying, especially the fact that FA is incurable,” recalls Marinda.
Marinda and her sister consulted with doctors who focused on preparing them to use wheelchairs and to expect the worst.
“A good friend of mine let me cry and have my breakdown. And then, in a moment of tough love, he said, ‘Okay, enough already…now where is your hope?’”
She began to search for ways to be proactive in her care, including looking for clinical trials, and she became active in physical and massage therapy.
Liam was only 13 when his sisters were diagnosed, and his family decided to wait to test him. “There were no treatments available,” says Liam. “My family believed that having a diagnosis and knowing there was nothing we could do would negatively affect my life. We believed it was better to keep living without a label.”
As Liam got older, he was known for being clumsy and sometimes people simply thought he had too much to drink. At age 23, Liam decided to get tested for FA and learned he was positive, just like his two sisters. “I panicked and wondered how people would act toward me. I went from being the funny, uncoordinated friend, to the guy with a serious medical condition,” he says.
Living with Friedreich’s ataxia
Shortly after Liam was diagnosed, the three siblings got together to discuss their futures. Marinda recalls, “I told them we are going to be okay. We are going to take this seriously, and we are going to cope with this diagnosis through action. I also know that if I personally stop focusing on health and self-improvement, then I will spiral.”
For Liam, his siblings have been a tremendous source of support. “I don’t know what I would have done without my siblings,” says Liam.
“When living with FA, you need to have someone strong with you. You need someone who won’t let you live in sorrow and fear, and you have to work to retain normalcy.”
Liam is still able to walk unassisted, though his mobility is impacted by FA and he feels frequent exhaustion. “I am starting to date, and I am aware that I need to explain my FA to new people I meet,” says Liam. “My friends share my story with others as a way of looking out for me.” Liam is also an avid musician, and FA has taken a toll on his ability to play guitar. “I didn’t take the time to get really good at guitar while I had the chance, and it’s something I regret.”
When Marinda first learned she had FA twelve years ago, turning to the internet sent her into a downward spiral. “All I saw about FA was the worst-case scenario, and I know that does exist,” said Marinda.
“But with FA, there is a spectrum. And I want the next person facing this diagnosis to go online, see my story, and know there are ways to take action and reasons to have hope.”
Today, Marinda is pursuing her Ph.D. in Organizational Behavior. She relies on a wheelchair, except for her once-weekly assisted walk from her car to her sports therapy appointment. “I am tired a lot, and my therapy appointments are pretty rough. It is frustrating to feel confined by your body. But if I stop moving, I will melt into my couch, and I won’t have that,” says Marinda. “My identity is not that I have a disability or a rare progressive disease. I understand myself and my sense of purpose.”
Hope for the future
While there are currently only symptomatic treatment options available for FA and none that address the root cause of disease, Liam and Marinda are hopeful for their future. “I miss walking,” Marinda says. “It is not easy being in a wheelchair or living with FA. It is hard, and people stare at me. I’d like the ability to more easily go out and travel. Wheelchair accessibility is not consistent, and I must plan and anticipate challenges everywhere I go. I look forward to being able to walk on my own one day, however ugly it might look.”
Liam most misses “the little things,” like pick-up basketball with his friends and going on a run. “I have been blessed to have a good attitude,” he says.
“I don’t feel doomed; I feel hopeful. Not being hopeful is a waste of time.”
For individuals and families facing a new FA diagnosis, Marinda wants people to know there is hope. “To the next person just learning about FA: focus not on the disease but on the person inside your body. Don’t lose yourself to a diagnosis. Keep a light on.”