RETINITIS PIGMENTOSA !

OK, so this is my first ever Blog, so please bear with me and apologies if I make any blogging cock ups!


So those of you who know me know that I suffer from some eye disease that makes me walk into things, here is where I am going to tell you all about that disease, what its like living with it and how it not only affects me but people around me too. I must point out I am doing this because it is a subject that I find hard to discuss with people so thought that writing it down would be easier for me, in no way is this a sympathy ploy, and I don't want anyone feeling sorry for me (but please feel free to buy me beer!)



I'll start off with the scientific bit, please feel free to scroll through this!

Retinis pigmentosa (RP) is a hereditary disease of the eye that leads to deterioration of vision and may lead to blindness.

How does it affect sight? In some cases people experience tunnel vision. This is because the rod cells at the outer edge of the retina have begun to die. Tunnel vision can be compared to looking through a pipe or tube. Sometimes vision loss is central, leaving side vision intact.Other major symptoms include poor night vision and difficulty with glare.

Who is susceptible? Those with RP are born with a genetic condition which results in sight loss later in life. Although it is hereditary, there are types which will skip several generations, so it may be difficult to trace in the family. Recessive RP may appear 'out of the blue' with no family history.

After diagnosis of RP The rate of rod and cone failure is different in most people, so it is difficult to tell how the condition will progress. For some people vision loss can take place slowly during many years.Sometimes the loss is quick, following years of no apparent deterioration.It is possible to cope with the limitations and frustrations caused by RP. World wide research aimed at finding a cure for RP is making good progress.



Still with me??



I was first diagnosed with this at the age of 30 after a routine trip to the Optician, I've always been dreadfully short sighted, so visited the Optician quite a lot.



Looking back now through my life it's clear to see that I have had this condition for most of my years. As a child I was always labelled "clumsy" due to the fact that I could fall over anything and everything! Going through to my late teens and twenty's falling over was always blamed on over indulgence of the Vodka kind, and to an extent it probably was! I struggled most in dimly lit places, nightclubs, cinemas etc. I knew I couldn't see things properly but just considered this normal as it was all I had ever known.



So, back to that fateful day at the opticians, all the routine questions were asked of me and I answered them as normal. I had just had my first daughter at this point, and I voiced concern to the optician that I might fall over whilst carrying her. She did a very brief peripheral vision test and referred me to a specialist who could complete further tests. At this point I had no idea of what was to come and put it to the back of my mind.



Field Vision tests were then carried out and I was asked hundreds of questions about my families history, did I know of any blind relatives and did anyone in my family have something called RP, the Optician might as well been talking Latin to me! Once this had been described to me in layman's terms I suddenly realised that actually, yes, this could be quite serious.



After more visits and tests I was referred to Prof Bird at Moorfields eye hospital. He is the leading consultant in this particular eye disease, and although sadly he has retired from practice he is still heavily involved in research.
Lots and lots more tests were carried out along with lengthy question and answer sessions and a full explanation of the disease and what would lie ahead of me.
At this point and even now, no-one knows how quickly the disease will progress and if in fact I will eventually go completely blind, at the point of diagnosis my peripheral vision was 70 degrees, which is nearly half of the required vision needed for driving. It was at this point that I was told that I would be banned from driving and that I had to write to DVLA to inform them of my condition, that was probably the hardest letter I have ever had to write.

The DVLA then sent me to one of their registered opticians where more tests were done and he forwarded the results to them, 2 weeks later I was no longer a driver.

I had very understanding employees, who made me redundant! Looking back I could have sued the arse of them, but at the time I had other things on my mind!

I lost my license in October, a very wet October, would have much preferred it to be July, at least I wouldn't get so wet whilst I was feeling sorry for myself!

The hardest thing for me then was asking for help, I would rather walk in the pouring rain than ask someone for a lift, in fact it took me about 3 years to stop being so bloody proud and admit that I needed people. I still feel awkward now asking for help or lifts to places, as I feel that I am taking the piss out of people. I have the best support network around me and the most fantastic friends who never say no. I won't embarrass any of you by naming names but you know who you are, and this is my opportunity to thank you from the bottom of my heart, I don't know what I would do without you. If a cure is ever found in my lifetime, and I get some new eyes, then I promise I will drive you all everywhere for ever! At least my alcohol consumption will decrease!

So, there I was feeling all sorry for myself, being a real bitch to live with and also in complete denial about the disease. I had no comprehension that the family around me might be devastated about this news too, my parents blaming themselves, my husband feeling helpless and frustrated that he couldn't make me better. This was the stage that I was at my most selfish, not giving a toss about the feelings of others, and God help anyone who tried to tell me how they were feeling, the phrase "shot down in flames" springs to mind!

SIX YEARS ON

My every day life is planned well in advance, just trying to get one of my girls to a party is like a military operation, and I know they miss out on doing special things with mummy. Everyday I look at them, and think hey, if I do go blind at least I have seen them smile, laugh and play, not everyone is lucky enough to have had that opportunity. I hope and pray that I haven't passed this disease onto them, but time will tell.

So six and a bit years on, have I changed? Maybe someone else would be better answering that question. I still bury any feelings I have towards the disease somewhere deep inside me, I have never gone for counselling, as I said earlier I find it really difficult talking about it, maybe it's because if I do, I know that I would burst into tears, and I can't let people see me cry, can I?

The frustration and anger inside me is still immense and I don't know if that will ever go away, your now probably all screaming "go talk to someone!" but you know, I just can't do it.

There is one person that I really must mention by name, my husband Chris has showed me so much love and support, he is the most patient, caring and optimistic person I have ever met, he believes there will be a cure and when there is he will buy me the sports car I have always wanted, I say just give me the cash now! If the tables were reversed I really don't know if I could be that way, so Chris, thank you my darling, I love you so much.

My vision has rapidly reduced in the last 6 years and now I only have 20 degrees peripheral vision, my night vision is completely gone now, and when its dark it makes no difference if my eyes are open or closed. The worst thing about RP is that no-one knows what it will do next. My vision could stay like this until the day I die, or I could be blind next year, and to be honest I don't know if I want to know, well if its bad news anyway!

So that's it. Congratulations on getting this far, hope I haven't bored you too much! I would welcome your comments or any questions you may have but on this blog only, remember I can't talk openly about it!

Thanks for listening

Sarah x


UPDATE - 28/04/09

Well, I went for my annual check up at Moorfields on Friday, and got the great news that the disease hasn't progressed any further which was a big relief for me. They did say that my cataracts will need doing, but think this is a couple of years away yet.

They would like to see my youngest daughter to get her tested but I am hoping that this is the hospital being over-cautious and me being paranoid, they seem to think that there is only a 1% chance that she will have it, so lets hope they rule it out!

UPDATE - 19/06/09

Had Isabel's appointment yesterday up at Moorfields, and considering she is only four years old, she coped with it all really really well, I was so proud of her. In total we were there three and a half hours! Lots of waiting around with not much to do, but I was expecting that so it didn't come as too much of a shock.

First they gave Isabel an eye test, she is slightly long sighted in one eye, but they do not think glasses are needed just yet. Then she had to have the drops, this was the bit that I was most nervous about, as I know how much they sting. She was so brave and didn't cry once whilst they were doing it, and was a model patient!

When we finally got to see the professor he gave her a thorough examination (again she was brilliant) and then took a look at my eyes too. At this point he said that he can see no sign of RP developing, which of course is fantastic news. They are however going to carry out more intrusive tests, but it is all looking positive so far.

They asked me if I had ever been spoken to about gene therapy, this is where they look at your DNA and try to spot the gene that carries the RP. Their success rate for spotting the gene is currently at 40%, but if they do, they can then take blood from both Mollie and Isabel to establish if they are also carriers, this is great news as it means we will know if the girls are ever likely to develop RP, which will save annual trips to Moorfields each year for tests.

I do feel really positive now about this, yesterday morning I was a complete wreck before the appointment, and did not know how I would handle it if she was diagnosed with RP, I think the worst thing would have been the guilt, and I would've hated myself for giving it to her.

I have also reached a decision recently regarding my RP, I have asked for counselling as I believe it is going to be the only way forward for me, I know it's going to be really hard for me but hey, at least I can say I tried! Will let you know how it goes!

Thanks
Sarah x