Appointment at Moorfields

Yesterday I went to Moorfields Eye Hospital for Part 2 of a 5 year study.

I'm going to divide the day into morning and afternoon to make it easier for me to think of what to talk about first.

Morning:

We (my Dad came along too) arrived at Moorfields early to our appointment and as it is a research study that I'm participating in we got our travel expenses paid back. I asked how many people had come back for Part 2 and I was told 10 people. I was quite surprised by this as I thought there were loads more for Part 1, but in fact it was only 14 people. I'm really pleased that I joined up to it as being so few in numbers every result must count.

So after filling out some agreement forms with one of the leads of the Study, Tony, the tests started. A really nice lady called Eva was doing these for me and we did all the tests that I've done before along with a new one. This new one is the one I'm going to try and go into detail with...

It's a picture of the eye retina, an image of how it attached. Not only can these images pick up a surface view of your retina it can see through the retina. Imagine cutting through an onion and seeing all the rings sideways, this is exactly what they did with my eye but just with images! What is funny about this is that it's a really new machine and it's only recently that eye specialists have seen this part of the eye like this. So all these experts are only just seeing the thing they specialise in for the very first time completely changing what they think about the retina.

I should be getting some of these images emailed to me by Eva so I can upload them up here and really until I can refer to the images it will probably be incomprehensible to try and explain what the results are without them. Basically however I'm told that they can see the cells disappearing towards the peripherally part of my vision (hence in the dim/dark I'm pheriperally blind) and the centre part of my vision is still perfect.

When looking down at the ring (you can look at the existing photos for this) the white ring is actually dead cells that haven't yet dispersed and vanished and are in the doughnut shape that is my blind spot/shape. The photos from yesterday show a much fainter white ring which shows that all the dead cells that are not doing anything anymore are slowly disappearing.

Just before lunch I got to meet Andrew Webster the consultant and he was sounding very positive about the study. For the very first time I have been told "I would be very surprised if we did not have a cure in your lifetime".

This is actually quite a big deal for me. I don't really think of cures, I'd rather be pleasantly surprised to hear there was a cure rather than constantly wish for one and then be disappointed. So to hear that things are promising is kinda weird. I was also told that they have now been given funding for a 3 year study into gene therapy where they hope to be able to halt the degeneration process - not cure it but at least stop it from getting worse. So, basically wow. I'm on the list to be contacted to see if I want to participate in this trial, we'll see about that I guess.

Afternoon:

So this was the last test that takes 4 hours. I was so tired after this test that I didn't even bother to ask what the results were. The test however was me pressing a button whenever I saw dots of light - 8 times with each one lasting approx 5-8 mins. Then I had to sit in the dark for 40 minutes whilst my eyes adjusted and then had to do the whole thing again in the dark. Boring and tiring.

After the last test however I got to meet Tony again along with a man called Zubin who did all the tests 5 years ago that Eva did for me this time. He was great and really explains everything very well. Zubin however started asking if I could perhaps help with writing the letters when the results of the entire study are finally completed. I of course said yes and was majorly honoured to be asked. It may of course not happen, but it's still pretty cool!

I also have had it confirmed that I defs do have Ushers Syndrome Type 2a (it's the 'a' that's new). The most common type of Usher and my sister has also been given the same diagnosis. Isn't it strange, they couldn't confirm this last time so it just goes to show that research does work!

All in all however it was an interesting day, I'm glad I don't have to do as many tests each year but I do feel incredibly proud of myself for taking part. Every little helps after all!

Look into my eyes

So for this entry I've done a bit of work to the blog and added a few features.

If you scroll down to the bottom of the page you can now see pictures, and before you start thinking they are pics of me, well in some ways I suppose they are.. but pictures instead of my eyes!

Test results from previous years. I try to keep all letters and results together and whenever I go to an appointment at Moorfields Eye Hospital I always ask for copies of all the reports/results. I do have more somewhere but what with the move I think they may still be in a box somewhere. Uploading them turned out to be easier than I thought it would be but hopefully they will be interesting for anyone wanting to compare results or just see interesting pics and diagrams..

If there is anyone else who suffers of Ushers Type 2 who also has results like these I'd certainly be interested doing a comparison.

I'm going back to Moorfields on Wednesday next week which is for the 5 years on with the Ushers Study that they are running. Hopefully I'll get more results then and upload them too.

Getting all the documents out again made me read through all the letters I've received over time and one thing I had forgotten is the exact details of the chances of having a child with Ushers. Apparently the chance of being a carrier of the gene is 1/100. Being a sufferer myself I will defs pass on the carrier gene which would mean that if Mike just happened to be the 1 in 100 it would then mean a 50/50 chance of having a chance of a child with the syndrome. All in all that's a 1/200 chance of having a child with Ushers so not bad at all!

News

I know, it's been far too long since I last made a blog entry. For this I'm sorry but thank you for all your comments and emails!

I've moved house and it's fantastic. I've had social services round and they've kitted the place up with wireless fire alarm, doorbell and house phone which all connect to a pager that I can carry with me at home that vibrates and a pad that vibrates my pillow at night if any of them get set off/ring.

I've been to Moorfields for my annual check up and they say I'm pretty much unchanged (I'm not so sure, but still).

I'm going to be going back to Moorfields in the next few weeks for Part 2 of an Ushers Syndrome Research Study.

I now have a date for Guide Dogs and Hearing Dogs to visit me for an assessment for a Dual Trained Dog - 30th September.

I will be starting a college course (Medical Secretary Diploma) come September which I'm receiving support in getting to and from the college by an organisation called 'Access to Work' who are funding a large part of the cost of getting a taxi there and back.

I'm getting funding through the NHS to do a NVQ in Business & Administration starting later in August.

Any more news? Probably, but I'll get into all the details soon!

The Beginning

Well it started of course with being deaf and for as long as I can remember I couldn't see in the dark. I used to think it was normal not being able to see in the dark - no one can right? Then I started to think that it was down to my Dad due to him saying he couldn't see very well in dark, ah well that explains that one, must have gotten a bit of night blindness from him.

My first real memory of not being able to see in the dark compared to friends was walking in a small up's and down's area. Hills everywhere which I guess must have been man made thinking back as the area was next to a very large flat common. It was getting dark and being the young thing that I was having an explore and following friends around the place. When we arrived in this up's and down's area I was confused, I couldn't understand how everyone else could see! To my eyes, you could not see where a hill started or dip was next. Incredibly scary but a friend led me around and from the sounds he was pretty surprised that I couldn't see anything but may have been under the impression that I just wanted to hold his hand - I wish! We headed out pretty quick after that but I still wonder had I not have been led it would have been all to easy to have ended up at the bottom of one of those hills.

Getting diagnosed with Ushers was figured out by my sisters optician. She had a normal routine eye examination for her glasses and the optician decided to do an extra test, the field test. Confused the optician asked my sister to really concentrate and did the test again, and then again. A referral was made to a guy who didn't really know much other than she probably had Ushers Syndrome and seeing as I was deaf meant that it was likely I would have it as well.

All my life I thought I was just deaf, it turns out the reason I was deaf though was due to the Ushers Syndrome. We both then had blood tests and signed up for the Ushers Study that was being undertaken at Moorfields Eye Hospital which resulted in more tests than I've ever had to undertake ever before. Again I feel ever so grateful that throughout all this my sister has been going through this at the same time, just sitting in the waiting rooms together being able to share experiences of each test was very reassuring.

And those were the early days! Now it's a case that I can no longer see the stars in the sky and without a guide or torch I'm completely stuck in the dark. Dim places are a real pain. I hate going to unfamiliar places in the evenings as I start to panic before I'm even there just thinking about how not only am I going to struggle to hear things in noisy places I know I won't be able to see people either! Lipreading in the evenings, in dim pubs and bars has become near impossible due to not being able to see clearly.

One of the biggest pains nowadays is the worry that I'm going to let my friends down, I don't want to always be the person who goes 'Can we go to this pub instead, it's lighter'. Birthday celebrations always want to be celebrated somewhere different with it most of the time being a very loud dark place - hell for me. I've started wondering whether I should be attending these types of events due to the fact I end up sitting down in a corner, normally under a light (a very daft thing to do) with no clue why everyone is laughing, obviously a joke I hope! I hate the thought of making the night no fun for others, specially Mike who is incredibly good at making sure I'm ok but will end up not having a good night himself.

Hints for anyone who knows someone with night blindness - if they're eating, light over them is great, they can then see their food, if they're socialising being under a light will blind them (glare combined with the inability for eyes to adjust) so instead put them in a dark spot with everyone else in the light - then it will mean they will be able to see you! So often I get put into a light spot with the person leading me thinking they have done good when in actual fact I'd be much better off with the light shining on the person/s I want to be chatting to.

It's been a while since I was diagnosed and a lot of experiences and thoughts later I'm here now a lot happier than I've been in a long while. There is no cure right now, maybe there won't ever be, but I'm hopeful but not relying on it happening. I take the approach that if it happens it will be a pleasant surprise rather than being ever so disappointed that no cure has been found. I don't read about trials and successes, I trust that if it happens I'll hear about it from my eye specialist at Moorfields and will continue to ignore friends showing me links to new findings trying to cheer me up - false hope doesn't help me but learning to live with Ushers does and I believe I'm succeeding.