Targeting enzymes that control how cells process fatty molecules called sphingolipids may offer a promising new treatment strategy for Friedreich’s ataxia (FA), a study in cells and mice has found. Researchers discovered that enzymes involved in sphingolipid metabolism were disrupted in several cellular models of the disease. Targeting two…

Enduring three fractures over nine months — my femur in September, my nose in February, and my fibula in June — has certainly taken its toll on me. Not only are fractures and recoveries disruptive, painful, and exhausting, but they’re also emotional for me as someone with Friedreich’s ataxia…

People whose Friedreich’s ataxia (FA) symptoms began in childhood or adolescence may face greater relationship-related challenges at more advanced disability stages than those whose symptoms started in adulthood, a study suggests. While both groups reported a similar overall number of adverse life events, relationship-related difficulties were more common among…

Ever since I was a teenager, my mission has been to leave this world a better place than I found it. I have done my best to do so in small ways, like thanking and smiling at the waiter serving me shrimp scampi, and in bigger ways, by designing a…

Lately, I’ve noticed a word used very frequently in casual conversations. It can have multiple meanings, depending on the context, but in my case, as someone living with visible differences, it seems to imply a problem. In public, I’ll hear kids ask their parents, “What’s the matter with her legs?”…