GNE Myopathy

Photo by Halacious on Unsplash

GNE Myopathy is an ultra rare genetic disorder that degrades the strength in my arms, hands, legs and feet.  There are less than 200 people in the UK with the condition (the last time I checked).  Unfortunately it’s incurable… at the moment.

Essentially the body produces a sugar called sialic acid.  Our muscles use this sugar to help them absorb protein for energy and repair.  For reasons unknown GNE Myopathy causes specific muscles in the hands, arms, shoulders, legs and feet to stop producing/using sialic acid which means they stop absorbing protein reliably which in turn causes them to slowly degrade over time.

In order for it to be activated in my body, the relevant mutated genes had to be passed down from both my parents.  That is a rare occurrence by itself, that both parents have the mutated gene, but when you consider I had to receive it from both of them and then both markers had to become active in my body (another rare occurrence) then, well, damn, I had a really special kind of bad luck!

There isn’t a prognosis for GNE Myopathy other than it will only get worse over time.  It effects different people at different stages in their lives.  For example, the onset of the symptoms for some isn’t noticed until they are in their 70s, whereas for others they can be wheelchair bound by their late 20s.

For me, I started to notice weakness in my early 20s and it has progressed since. I can still walk around but running and jumping are a distant memory. I also have weakness in both hands.