A high dose of the Friedreich’s ataxia (FA) treatment Skyclarys (omaveloxolone), far above the approved dose to match blood levels when the therapy is taken with food, did not affect heart function in healthy individuals, a study confirms. The study, “Effect of a Supratherapeutic Dose…

I have been attending a leadership training for people with rare diseases. The training is fueled by fierce moms trying to pave the way for their children to live in a better world full of cures. I am envious of those kids. As a preface, I must say that I…

When our daughter Amelia, 13, was diagnosed with Friedreich’s ataxia (FA) five years ago, I started doing the math. Like other parents, we’d been told that most people diagnosed with FA will need a wheelchair within 10 years after symptoms appear. This, of course, depends on the speed…

A new gene editing technique disrupted the mutations that cause Friedreich’s ataxia (FA) in a mouse model, a study reports. A type of base editing, the technique swaps one genetic building block, or nucleotide, for another. These edits can interrupt long repetitions of three-letter DNA sequences (trinucleotide repeats, or…

Last week, I took a slow-motion fall. While transferring from bed to my wheelchair, I tried to reach for something — so I could be quicker — and landed on the floor. I am no longer able to transfer from the floor to my wheelchair. Wendy, my service dog, can…