Phil C.

On my 50th birthday my son and I rode bikes across the state of Kentucky. I did this 7 times before I turned 60. I have always been very active hiking, running, gym, cycling and basically anything to challenge me and contribute to health. I am now 68 and just finding out I have RFC1 CANVAS.

Until now I have never read or heard of CANVAS. I have been seeing a neurologist for 20 years for neuropathy and loss of balance. I have had nerve biopsies, nerve conduction test and DNA testing only to have the conclusion to always be “idiopathic,” meaning we don’t know why you have neuropathy and balance issues. I have seen seven different neurologists and specialists hundreds of miles away. In the meantime, my condition keeps getting worse now including muscle weakness, severe nerve pain, gate change, loss of hearing and bilateral muscle spasms in my thigh, neck, arms and torso. I can walk unassisted but progressively getting worse including recent falls. A fall this past summer landed me in the emergency room. Loss of balance used to be only in the dark, but is now in broad daylight, also.

In December of 2023 I was referred to a neuromuscular specialist. The first visit and examination she noticed that I had a dry cough. This was on my chart and something I have had for 30 years. No one could tell me why. She immediately ordered a DNA test for RFC1 CANVAS. The test result was positive for RFC1 CANVAS disease.

Why did this diagnosis take so long? The disease identification has been around since 2000, I believe, but the DNA link was only discovered in 2019. I have read many stories online and from this group’s members. Many share the same frustration. I have read that RFC1 CANVAS is the great mimic for MS (Multiple Sclerosis). A few years ago, I downloaded a copy of all the MS symptoms and handed to my neurologist. I checked every box except one. He dismissed it.

Having a DNA condition, I know the prognosis is very important for my family. I have two younger siblings that have some level of symptoms. It is good to know they might not need to search 20 years for an answer. However, I pray they will be negative for RFC1 CANVAS or any other serious neurological disease.