I’m going to own it: I started 2024 with great ambition to work out more — followed by a fantastic lack of follow-through. My goal was to run a 5K race in the summer. I bought new shoes and started training, but after a few weeks, I struggled to find the motivation to hit the streets. Like most people in the Friedreich’s ataxia (FA) community, I want to support the Friedreich’s Ataxia Research Alliance (FARA) in finding treatments for this disease, which affects our 11-year-old daughter, Amelia. Fitness and fundraising are both important. Yet I find myself weighted down by being a caregiver ..read more

Dear friends have asked me how I’m doing a few times over the past few weeks, specifically concerning my Friedreich’s ataxia (FA). Through their questions, I’ve realized that I’ve been so caught up in the busyness of parenting young children in springtime that my life has become more family-focused. Because of this, I haven’t given my FA much thought after I get out of bed to start my day. While being occupied with activities that bring me joy and fulfillment is generally a good thing, I also have to be intentional about processing my thoughts and feelings about FA to avoid them catching up t ..read more

If there were a Mount Rushmore of Friedreich’s ataxia (FA) advocates, it would depict four action shots of Kyle Bryant. Kyle, 42, is a trailblazer in the FA community, and his positive, encouraging attitude is infectious. I’m lucky to call Kyle one of my good friends; he’s the person who first inspired me to get involved in FA advocacy. (Like me, he has the condition.) His wild idea to participate in the Race Across America (RAAM) — a cycling race that extends from Oceanside, California, to Atlantic City, New Jersey — is documented in the 2015 movie “The Ataxian” (free to watch on YouTube). O ..read more

Patients and caregivers will hear the latest news on Friedreich’s ataxia (FA) research and management at an April 27 meeting in Baton Rouge, Louisiana. The Friedreich’s Ataxia Research Alliance (FARA) will host its FA Research Reception at the Hilton Baton Rouge Capitol Center. Topics for the event include clinical management and the FA treatment pipeline. Registration is open for the meeting, which is free to attendees. Lodging costs are not covered. “FA Research Receptions provide individuals and families affected by FA with up-to-date information about Friedreich’s ataxia research and ..read more

My mind was whirring at what felt like 1,000 miles an hour. I had a paper due, a doctor visit out of state to plan, a dog to take to the vet, and more. I was swamped. All the thoughts swirling through my head were overwhelming me, and not one of them was helpful. Many just added to my to-do list. I wanted to find a way to not be so engaged with my thoughts, some of which were frighteningly inane. At the time, I was studying for a degree in social work, so I knew meditation was a technique that could help mitigate those spiraling thoughts. I’ve now been meditating, using the Headspace app, for ..read more

A gene-editing therapy designed to correct the FXN gene defect that’s associated with Friedreich’s ataxia (FA) reversed several cellular features of the disease in patient-derived nerve cells, according to recent research. Scientists identified that dysfunction of a cellular compartment called the endoplasmic reticulum (ER) might play a key role in driving FA-associated nerve cell death, but the gene therapy was also able to restore more normal function of this organelle. “Taken together, these results represent a novel finding for disease pathogenesis [development] showing dramatic ER s ..read more

My dad — a vital yet balding older man with a gray beard and merry blue eyes — pedaled alongside me. We were participating in a rideATAXIA event, one of the main fundraisers for the Friedreich’s Ataxia Research Alliance (FARA). He rode his upright bike, and I was on my recumbent trike. It was a beautiful, sunny day with blue skies all around us. We were traveling at a leisurely pace, which is the most my Friedreich’s ataxia (FA) will allow. We had chosen the six-mile route. Chatting along the way, my dad turned to me at one point and said something I’ll never forget: “This really is a beautif ..read more

My 11-year-old daughter, Amelia, has Friedreich’s ataxia (FA), and the impact it’s had on her body and our lives has its own gravitational pull. As is the case for most people managing a chronic disease in their family, FA is always present, even when it’s not the conversational centerpiece. When spending time with people unaffected by chronic illness, I’m amazed at how different their lives are from ours. When it comes to how they spend their time, money, and energy, I just cannot relate. This dissonance can lead to feelings of loneliness, loss, resentment, or, sometimes, a reminder of how i ..read more

The use of high-resolution ultrasound in people with Friedreich’s ataxia revealed nerve changes in the armpits and arms that correlated with disease severity in a small study by researchers in Italy. These results suggest that such ultrasounds of the nerves running through the axilla region — the armpits — of patients, and through the arms, could be used to help monitor FA severity. According to the researchers, changes in nerve ultrasound may be “a potential biomarker of disease severity” in FA. The study, “Nerve Ultrasound in Friedreich’s Ataxia: enlarged nerves as a Biomarker of disease se ..read more

I recently complained to my husband, Dave, that taking care of my health is all I ever do. It isn’t, but that’s how I felt at that moment. Dave replied with some version of “I imagine it must be hard, but you’re worth it.” Of course, most of me agrees, or I wouldn’t be doing it. But a little voice inside my head said, “Easy for you to say, you’re not the one doing it.” To be clear, I could have freely shared this with Dave, I just didn’t. Sometimes I’m overwhelmed by everything required to take care of my health with Friedreich’s ataxia (FA). Not only is there a lot to do, but because of my p ..read more