“Nope, not the same.” I’ve been saying that a lot recently. It might be my age. But it could be that I’m tired of the metaphorical yardstick we all seem to use, drawing comparisons between life experiences. Either way, I’ve been speaking and owning more of my truth about parenting a child with Friedreich’s ataxia (FA). It feels good. We’ve all spoken out, and, most certainly, we’ve all had that moment in which an expressed challenge is met with a comparative narrative: “I understand how you feel because ____” (fill in the blank). But the blank is almost nothing like what we face with FA or ra ..read more

May will be a busy month for patients, doctors, researchers, and advocates in the Friedreich’s ataxia (FA) community as they participate in FA Awareness Month, an initiative for sharing information, personal stories, and support for those living with the rare neuromuscular disease. Named after Nikolaus Friedreich, the German physician who first described it, FA primarily affects the nerves and muscles of the body, causing loss of coordination and muscle strength, along with other symptoms. The Friedrich’s Ataxia Research Alliance (FARA) will lead the efforts with community conversations, educ ..read more

It was 6 a.m. I was still in bed when my van alarm started going off. Such alarms make me tense, particularly first thing in the morning. My husband, Dave, was up and ran outside to turn it off. In my mind’s eye, I saw him running outside with his arms up in the air, stressed out. In most situations, including this one, Dave is a calm person. It’s a funny way to picture it, though: a panicky man sprinting out of the house while beep, beep, wah, wah is blaring away. On top of that, the ramp I use to get in and out of my van was going up and down. I have the rare disease Friedreich’s ataxia (FA ..read more

Part of living with Friedreich’s ataxia (FA) is battling relentless fatigue. If I feel energized at all, it is still a fraction of what I need to successfully tackle my day. Doing the simple, unavoidable, and monotonous tasks that all adults must do can quickly drain whatever energy I might’ve started the day with. Therefore, for the last decade, it has felt like my proverbial tank is drained from midday onward, even on my best days. Feeling constantly drained is, well, draining, even if it is my “new normal.” Because of this, I must be incredibly intentional with my choices. I have to evalua ..read more

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