Marius

My Ataxia Journey: Sailing Uncharted Waters

My name is Marius, and I live in Romania. I’m 64 years old, and I’ve always been an active, independent person who enjoyed thinking clearly and moving freely. For over 40 years, I worked as a shipping electrical engineer—until I retired in May 2024.

But over the past couple of years, I began noticing troubling changes: my balance was off, my speech became slurred, my handwriting deteriorated, and I started experiencing overwhelming fatigue. These changes were slow and subtle at first, but they gradually became impossible to ignore. In addition, I’ve been struggling with a very disturbing tinnitus on the right side of my head for over 15 years. Surprisingly, a contrast-enhanced MRI of both ears has shown completely normal results, offering no explanation for the symptom. After a series of MRI evaluations, brain imaging revealed significant cerebellar and pontine atrophy, as well as degeneration of the cerebellar peduncles and the classic “hot cross bun sign,” indicating pontocerebellar tract involvement. However, despite extensive testing—including genetic panels for multiple types of Spinocerebellar Ataxia (SCA1, 2, 3, 6, 7, 8, 10, 12, 17, DRPLA), whole exome sequencing, paraneoplastic antibody screening (antiHu, anti-Yo), vitamin levels, and transglutaminase 6 (TG6) testing for Gluten Ataxia—no definitive diagnosis has been found.

This places me in what some call the “idiopathic” or undiagnosed Ataxia category. I’ve also ruled out other structural or vascular causes through cervical and vertebrobasilar Doppler imaging. While my spine shows some degenerative changes and nerve root compression, these findings don’t explain the neurological symptoms I face every day. Living without a clear diagnosis is one of the hardest parts of this journey. Not knowing the cause—or what to expect—makes it hard to plan for the future. I’ve consulted with several neurologists here in Romania, but my case seems to go beyond what most local specialists can confidently interpret. In the meantime, I try to remain as active as possible. I do daily physical therapy exercises and go to the gym twice a week. I’ve also explored complementary approaches like homeopathy and nutritional supplementation—including omega-3, CoQ10, magnesium, digestive enzymes, and herbal remedies—but so far, I’ve seen no measurable improvement, especially in my balance.

My speech has become more challenging, and I sometimes struggle with coordination and swallowing, but I’m doing everything I can to stay engaged, informed, and connected. By sharing my story, I hope to raise awareness for those of us living with undiagnosed or rare forms of Ataxia. I believe that research, connection, and persistence are the only way forward. I’m still searching for answers—but I remain hopeful.

— Marius