Tedwin's Disability

I am Tedwin a 41-year-old, whose symptoms started in the first decade of life. It was quite clear in the earlier year’s steadiness was the main issue. I moved pretty well and pretty fast, running. I was unsteady far more than others, and then I began to develop slightly slurred speech. I have had a slowly progressive cerebellar syndrome, clearly developing spasticity and stiffness in the legs.

I was able to run in my teenage years, but has used a walker now for about 10 years. I do occasionally fall, I have a slight feeling of tingling, but very little sensory abnormalities. My hands were very good earlier in life, but I did develop numbness on the right hand side of my left hand, in 2014 I had decompression of the ulnar nerves on both elbows. There was a transient reduction of the numbness only and has now returned, so there is numbness in those nerves leading to progressive clawing of the hands over years. I drive an automatic car but I did drive a manual car which I managed.

I have proximal weakness on standing. I had a spastic gait which is narrow based and ataxic. Cranial nerves showed good acuity, there were broken pursuits with horizontal nystagmus, but I have a full range of eye movement. I have very brisk reflexes throughout except for the ankles which are just present. Clearly there is a wide differential of cerebellar ataxia spastic paraparesis neuropathy, but the slow conduction does give us some insight.

The Gene reasearch found out that I have two abnormalities in the gene for ARSACS. This gene is called the SACS gene. When the gene research found out, they assumed one had come from my father and one had come from my mother.  The assumption was that both of my parents would have had one abnormal gene and one normal gene which means they would be carriers. My father, as expected, has one normal copy of the SACS gene and has one abnormal copy which carries one of the abnormalities in my SACS gene. They tested my mum twice and she didn’t carry the other abnormal gene. This situation is rare and what that means is the second abnormal gene most likely started in me and that is called de novo mutation.

I am a very outgoing, bubbly person with a BIG HEART!