Retinitis Pigmentosa and me :)

I mentioned in my intro a few weeks ago that I have a disease called Retinitis Pigmentosa. I thought I should give you a bit of information about it, how it affects me and what the future holds.  It's a bit complicated but bear with me and hopefully I won't bog you down with lots of scientific info that I don't really understand myself - I am not a doctor so this is just what I've learnt through my own experience with the disease and you'd obviously have to seek proper advice if you think any of this relates to you (it's unlikely but still, you never know!!)

So, what is Retinitis Pigmentosa (RP)? RP is a name given to a group of inherited eye diseases affecting the retina - that's the bit at the back of the eye that sees light and transfers the images to your brain via the optic nerve (sorry, I'm sure you already know this!).  Basically, in simple terms it means that the rods (the bits of the retina that see dim light) and the cones (the bits of the retina that see light and colour) start to break up and die causing permanent damage.  As these cells start to die you start to lose areas of sight; usually peripheral vision first so you can end up with tunnel vision but it can eventually lead to total blindness. 

Normally the first symptom of RP is night blindness so it may be noticeable all of a sudden that it's not easy to adjust to low lights like in a cinema or you may find it difficult to see very well at night.  Another symptom is clumsiness - so you might find yourself tripping over things on the floor or walking into door frames more often, this could be due to the loss of some of the peripheral vision (you might just be clumsy though hehe). 

Alternatively, like me, it could just be picked up over a number of years by your optician noticing changes at the back of your eye - when the cells start to die they are no longer a healthy orange colour, they go brown / black so you end up with spots of this pigment dotted around your retina like this 

Photo from esciencenews.com

Once you have symptoms you then have to have tests to try and get a diagnosis, which isn't always easy. There are many types of tests from visual field tests (you look in a machine at a fixed point and press a button when you see random lights flashed around you) to electro-diagnostic testing (you can be attached to various machines with 'contacts' on / in your eyes to measure what is getting through to your brain - very sci-fi!)

Most types of RP are inherited although sometimes you won't know anybody in your family that has it - we think I'm the only one in my family to have it although I know very little about my paternal grandfather so it's possible it came from there.  

There is no cure or treatment for RP at the moment. So far over 100 genes have been discovered that cause or contribute towards it so it's very complex but there is lots and lots of research ongoing at the moment - I'm hopeful that one day there'll be a breakthrough. 

So that's a brief explanation of what it is. Now, the bits that affect me! I was first referred to a specialist when I was about 12 / 13 years old - my optician had noticed some changes in my eyes and wanted them monitored more closely, which was done at the local hospital for a few years.  When they decided that things had changed again they referred me on for further tests and I eventually ended up at Moorfields Eye Hospital in London.  After 6 long years I was finally diagnosed with Sector RP - this means that you just have the disease in one part of each eye and it is non-progressive so I was discharged, fantastic news for me! 

Fast forward 10 years or so and I have been getting along fine; still no typical symptoms and apart from the field tests that I have to have for the DVLA to check that I am still legal to drive it hasn't really affected my life.

Until last year!

I decided that as I now have little man I should ask for some genetic testing to see if they could identify any faulty ones in me and if he has them too.  I spoke to my GP and asked for a referral back to a specialist and I saw a new consultant at my local hospital in May 2013.

Unfortunately, it seems that my initial diagnosis wasn't correct and I don't have the 'Sector' variation of the disease as it has progressed and is now affecting the whole of the periphery of both of my eyes.

It was a bit of a shock and it's taking a little bit of time to get my head round it as the thought of going blind is terrifying as I'm sure you can imagine but I'm trying to be positive about it - it's not life threatening and I know it's going to happen so I have plenty of notice :)

Anyway, now we're going back to basics and having all of the tests done again to try and determine what type of RP I do have.  I don't actually mind this bit - I find it fascinating and sometimes it just feels like it's happening to somebody else.  In September I went for my first set of electro-diagnostic tests at the nearest Neurological Centre and earlier this week I was back in London at Moorfields Hospital for the second set and for photographs to be taken of the back of my eyes.  None of it hurts me although a couple of bits are uncomfortable / irritating because there's things in your eyes - a bit like when you have an eyelash in your eye and you can't get it out!

First set of electro-diagnostic tests in September!

There are positives of course - I have found some great charities & organisations that have really helped me understand the disease and have found lots of people through online groups who have it too and cope brilliantly in every day life, they really are an inspiration.  The most helpful one so far for me is RP Fighting Blindness - they have a great website with lots of information and you can follow them on Facebook and Twitter too.

So, I'm back to see my consultant in March with the results of these tests and will update you then on how things are going - fingers crossed it hasn't progressed too much :)

AFUK x