SCA1 in My Family: The Science and the Story

Spinocerebellar Ataxia Type 1 (SCA1) has severely impacted my family, and witnessing its effects firsthand is what inspired me to create this website. My goal is to raise awareness about this rare genetic condition and support ongoing research efforts. SCA1 affects my mother’s side of the family. My grandfather, mother, aunt, uncle have all been diagnosed with the disease. I’ve seen the devastating impact it has had, especially on my grandfather. Once able to walk normally, he now struggles with significant gait and coordination issues. He has also developed dysarthria, a speech disorder that makes him increasingly difficult to understand. Although he’s been choking less than he used to, dysphagia (difficulty swallowing) is still a serious and progressive concern for many living with SCA1. My mother is doing everything she can to slow the progression of the disease. She takes natural supplements and neuroprotective treatments like GLD1 consistently, day and night. She's also participating in clinical trials focused on disease management rather than drug based therapies, hoping to make a difference. In our family, symptoms typically begin appearing in the late 40s to early 50s. My aunt, still in her 30s, hasn’t shown any signs yet. However, my uncle, now in his 50s, experiences severe symptoms, including frequent falls some serious enough to require hospitalization. Thankfully, my younger brother and I were both tested before birth and do not carry the gene. Unfortunately, my older sister wasn’t tested, as my mother didn’t know she carried the condition at the time. I created this website to share our story, spread awareness, and encourage support for continued research. SCA1 may be rare, but its impact is life changing. The more people who understand this disease, the more hope we have for better treatments, and one day, a cure.