This to me is the boring bit, its the bit with the long confusing and hard to pronounce words.
My eye condition is a lifelong, genetic disorder. Meaning that despite not actually having a name for it until 2008 I have had this condition from birth and it was formed while I was growing inside the womb.
It was passed to me thought the genes I inherited from my mum and dad, they themselves are just carriers of the condition. I am the only documented person in my family history, but there were indicators on both sides of my family to this having a history.
The umbrella name for my condition is Retinitis Pigmentosa, a condition that takes on many forms and after extensive genetic testing and therapy can often be given a more specific name, in my case that name is Leber’s Congenital Amaurosis. A condition that affects about 1 in 80,000 people in the uk, the condition currently has 11 recognised forms and a few un-registered forms, my genes are part of a form yet recognised.
In layman terms my condition can be easily explained, however it is not often as easy to understand.
From birth I have suffered with Nystagmus, this is an involuntary movement of the eye, so I look as if I am continually looking around, but having had it from birth my brain has learnt to focus with the movement and I am actually only looking in one place. I have severe Myopia, where I am short sighted, in my case, with glasses on my corrected vision isn’t even the top line of the eye chart, I have to stand less than 1m away to see that with my good right eye and in my left I am classed as ‘finger counting’.
LCA as it is better known is a genetic disorder that in addition to the nystagmus and myopia the retina at the back of the eye is not formed properly, creating weak spots that result in it dying away, in an unmeasurable and unpredictable manner.
My LCA does not follow the usual patterns, and it is this that led to me going un-diagnosed for so long. Having always suffed with poor sight, I noticed a real deterioration in other things after the birth of my daughter. I was becoming more sensitive to light, finding myself having to put the light on earlier and earlier in the day. Having to stop and stand for several moments when walking from outside to in to allows my eyes to adjust to the different lighting. I began to miss things, little things like the curb, a bollard, an A-frame shop sign.
Thinking these were all just due to being tired with a new baby I left it for several years before mentioning it to my doctor.
So here I am now. In the time since registration I have sadly lost significant peripheral vision causing me to no longer be able to use both my eyes together without severe double vision. I have issues with movement and being able to judge speed and distant, with a feeling of shock coming on me when things just suddenly appear in front of me.
When looking at someone’s face, I see no detail, on a good day I can use the shadows to help me, but mostly I rely on memory and knowledge to know what someone looks like.
If I look closely at someone and just look at their eyes, I am unable to see anything else on their face as my peripheral is now less than 10%.
I rely heavily on hints, contrasts and memory to get me around in this ever diminishing world that I live in.
But with my guide dog by my side, we get there together. She is a great support and friend, but despite some people’s lack of awareness she can not read street signs or tell me which way to go, I am always in control with her and her job is to guide me there safely.
AND NOW THE HEARING LOSS……
This is yet to be fully diagnosed, it is believed that it is linked to my sight loss and has been suggested to be known under the ‘big umbrella’ of Ushers Sydrome, or more commonly explained as deafblind.
I have been part of many genetic screen projects and now it looks like I am about to undergo a few more.
All I know for now is that my hearing has deteriated dramatically in the last nine months and life with hearing aids is the way forward.