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

I recently had an unpleasant encounter with a stranger who was overflowing with pity regarding my disability. In the end, she questioned my abilities with what seemed to be judgment disguised as compassion. I had my 6-year-old daughter with me, so I was extremely intentional with my tone, body language, and word choices. To my daughter, the conversation probably looked and sounded polite. But it’s been over a week now, and I haven’t been able to forget the encounter. Even though I don’t believe that everyone, whether they’re a stranger or an acquaintance, deserves limitless knowledge about my ..read more

The disease I have, Friedreich’s ataxia (FA), causes loss of mobility among other things, which prompted me to get a sweet service dog named Wendy. Last December, I took Wendy to the vet for her annual checkup. Like all of her previous appointments, Wendy kissed the vet, got a treat for taking her shots stoically, got weighed, and was declared in great health. But this time, there was an “except” added to the “in great health” part. “Except” is not a welcome addition to “in great health.” Wendy had three cysts that the vet wanted to take a biopsy of because they felt funky to him. You ma ..read more

It started as a simple question on our car ride home. “If you had a time machine, where in time would you visit and why?” The answers included typical kid responses — dinosaurs were mentioned — but my 11-year-old daughter Amelia’s quick statement made me catch my breath. She said she would travel back in time and tell me she had Friedreich’s ataxia (FA) so I wouldn’t have to work so hard to figure it out. When Amelia’s health took a turn for the worse when she was 5, no one showed up with a book providing insight and guidance like they did when I was pregnant. I felt so lost. So let’s say I h ..read more