One thing that very few people know about me is that I have a relatively rare medical condition.
I have Chronic Progressive External Opthalmoplegia, affectionately known as CPEO.
CPEO is a mitochondrial disorder. It is genetic and caused by a missing piece of mitochondrial DNA. In my case it’s the ‘Twinkle’ gene (I know let’s give this problem a happy, upbeat name. I’m sure no one will mind suffering from it then :-/)
The condition itself is not overly common and the testing process is complex and time consuming to begin with. My diagnosis was as a result of my Dad being tested after years of symptoms. Sufferers have a 50% chance of passing on the condition and apparently I hit the jackpot!
The list of symptoms for CPEO is long and varied; it’s seems to vary greatly from person to person with range and severity. So far I have the main characteristic of the condition which is a ptosis. This is posh term for a droopy eyelid. I had an operation at around the age of 5 to lift my left eyelid which was successful and has so far lasted 28 years.
Hopefully I will be one of the fortunate ones and this will be the only way it affects me, but I guess only time will tell.
Mitochondrial disorders cause muscle weakness, poor balance and fatigue. It’s one of those ‘invisible illnesses’. Unless you decided to have a peek at my DNA structures, saw me at my most tired when my eyelid rebels against the operation, or got into a complicated conversation with me you would be unlikely to realise that anything was wrong.
There are many conditions (some debilitating) that don’t exhibit obvious external symptoms, this doesn’t mean that the person isn’t suffering. Talk to people, ask how they are; and actually listen to the answer.
I would love to hear from anyone else with CPEO, it’s sister condition KSS or mitochondrial issues in general.
Welcome to my world.