“Every discovery begins with curiosity. Every collaboration brings us closer to better treatments. Every patient reminds us why this work matters.”
Patient Journeys
Every individual living with RFC1-related disease has a unique story. Some have spent years searching for a diagnosis. Others have navigated challenges with balance, neuropathy, chronic cough, vision changes, or daily activities. Along the way, they have discovered resilience, practical strategies, and sources of hope that can encourage others facing similar journeys.
These stories celebrate perseverance, provide encouragement to those who are newly diagnosed, and remind us that behind every scientific discovery are real people whose lives inspire the work we do.
K.K. on finding an RFC1 diagnosis, Patient Journey
Before My Diagnosis
My husband noticed my persistent cough when I was in my mid-thirties, long before I paid attention to it. A chest X-ray was normal, so I assumed it was an allergy. During the COVID pandemic, I became more aware of how often I coughed, but I still had no reason to connect it to a neurological condition.
Around 2021, I began having episodes of burning pain on the top of one foot. Pins and needles and numb areas in my feet followed. After a long flight in 2023, one side of a foot stayed numb for about two days. Blood tests did not explain it. Later I developed tingling in my hands and had a frightening choking episode, which prompted a neurology referral. My initial examination and scans did not give me a clear answer, and I was prescribed medication to help me sleep through the uncomfortable sensations.
My brother had also undergone years of investigation for muscle wasting and balance problems. Because of that family history, I saw a neuromuscular specialist. Nerve conduction studies unexpectedly showed a moderately severe length-dependent axonal polyneuropathy, although my muscle function was normal.
Receiving the Diagnosis
Further genetic testing eventually brought an answer: in October 2025, I received a letter saying that my RFC1 result was consistent with CANVAS. My brother was tested afterward and found to be a carrier. His separate muscle condition remains unexplained.
Living with RFC1 Today
At present, my neuropathy affects me mildly. Symptoms are mostly controlled, and difficult nights have become less frequent since I changed from amitriptyline to duloxetine. The hardest part is the uncertainty: I do not know how my condition will progress or whether each new symptom is related. Recent swallowing and bowel symptoms have led to further investigation. Some findings may be related to nerve sensitivity or autonomic function, but their cause has not been established.
Looking Forward
I would rather understand what is happening, even when the answers are incomplete. Research and the growing RFC1 community give me reasons to remain hopeful.