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!

Exchanged at last

I'm so excited as Mike and I have finally had an exchange of contracts on the house we're buying, this is made even more big as we put the offer on the house back in January and due to one thing or another it's been delayed again and again. Now at last we really know it's happening and we're completing on the 28th May! Woooo!

No eyesight talking today, too much excitement! With all the necessary planning and at some point moving/packing there may not be so much of daily blogs but I'll try to keep blogging as much as possible!

Selective Hearing

Some people say that it's both men and women who suffer from selective hearing. I think due to having a hearing loss I do it a lot more due to it being easier to do than most.

It takes concentration to listen, not because the conversation is boring but because due to being hearing impaired you have to process the sounds into words. Auditory Processing I believe it's called, where you hear the sound, translate the sound and then understand the sound. If you can't hear the sounds all that well in the first place, it makes it that much harder to understand and process.

For instance and this happens all the time to me, I'll hear a sentence but miss a couple of words, but I can guess what the missing words are. You'll use other keys to help understand, lipreading, the vague sound or just the words in the rest of the sentence to help fill in the gaps.

People find it frustrating when you say 'pardon' but then in the middle of repeating yourself, the other person suddenly interrupts and will answer back and you're like, so why did you say pardon then?

Well, I do this frequently, I'll miss a few words and say pardon but in the time that the person is repeating themselves I'm processing what was said and will suddenly put together the sentence and answer them before they've had a chance to finish repeating themselves. It's due to this auditory processing, the length of time it takes for me to hear the sound and getting processed by the brain.

Hence why I sometimes get so tired, all this concentration on listening can take it out of you. So if I'm at this tired state I literally will forget to listen. Sounds strange I know but it's true. Someone will be talking and I will just zone out and I really do believe that it is not because I'm not interested in what they are saying but my brain just gets tired of processing all the sounds into words and will stop listening.

Of course I've used this to my advantage before saying that I just didn't hear something that was said but more often than not it is actually a nuisance to me. Certainly Mike would agree it's a pain as he'll often complain that I've zoned out and stopped listening, or don't listen properly and assume that I've heard something correctly but in fact I haven't. I'll listen to a sentence assume that I heard 'house' when he is actually referring to a 'mouse'. I'll put in the most sensible word into the sentence when actually he is talking about something completely different.

Rather annoying really but something a lot of people suffer from but don't have a name for it. I know it happens to everyone at one point or other but for me it's a daily occurrence.

The Pros of being Deaf

There are definitely more pros to being deaf than blind. All my life I've actually enjoyed being deaf most of the time. If I'm stuck on a bus with a baby crying, off the hearing aids go - bliss. I can't really imagine me without hearing aids, they are a part of me.

So whilst I am sometimes jealous of people with normal hearing, they can be jealous of me. I think back to when I went camping at a festival with my best friend growing up. Partying and talking happens well into the night making it near impossible to sleep with all the noise going on. Not for me however with comments of 'You're so lucky that you're able to do that!' Of course when someone trips over the tent I still wake up to all the vibrations.

To wake up, my alarm clock vibrates instead of beeping. Once I move into the new house I'll also have the doorbell and fire alarm hooked up to the bottom of my pillow. If I'm asleep, despite not being able to hear, I'll still know if something major happens.

Back at school in my really young years I was the envy of my school year due to having a potentially very uncool box that I had to wear. To explain what this box was, my teacher wore one too with a microphone on and mine was the receiver. Good to be able to hear the teacher over the noise of the classroom. I panicked when I was first told to wear it due to it's ugliness but a few days into the school year the teacher forgot to turn the microphone off. I got to hear all that was said in the staffroom which I promptly repeated to everyone. From being unknown I became popular. The teachers cottoned on after a while but the damage was done. Loved it!

Being one of the most popular kids lasted throughout that school, however when I changed to secondary school things changed. I wasn't bullied a lot or anything, in fact I'm not sure thinking back how it happened but I started to hang out with people who were not popular, had other disabilities or just were the studious type. I didn't like school much but I don't think it was down to this, more that I just didn't like hard work!

A great excuse by the way! 'Sorry Sir, I didn't hear you when you set homework', again after a while they cottoned on so that at the end of class they would come to me directly and tell me what the homework would be. Still I used the fact I was deaf a lot to my advantage. I always have believed that to squeeze out every possible advantage is only fair to have the disadvantage of being deaf.

What I can and cannot see

So my vision is a little bit strange, even for Ushers Syndrome. My sister has the classic problem, tunnel vision with the peripheral vision going first. Me? I have doughnut vision.

What does this mean? Well I can see through the middle of the doughnut and around the outside of the doughnut but nothing in the area of the actual doughnut.

Imagine looking at a bush, it's got a bird sitting in it. If I were to look at the bush with part of the doughnut obscuring the bird I won't see it, instead I'll just see more bush, if I move my eyes a fraction suddenly I'll see the bird. It's kind of amazing what the brain can do. A lot of people I speak to who actually have the courage to ask wonder if I just see a black or grey area, it makes sense really, I should be able to see the doughnut right? Wrong.

Instead the brain fills in the doughnut with what it thinks it should be seeing. Back to the bush idea, if I don't see the bird I see more bush, not a big void of nothingness. This I believe is preferable to the alternative of having a black/grey ring obscuring my vision. At least this way I sometimes won't notice I'm not seeing something at all.

This can be the most dangerous part about it. Because sometimes you cannot tell when you are not seeing something, you don't know when to look for something. Am I making sense? Probably not.

If I'm walking along a pavement and there is a black bollard sticking out of the ground and I don't see it, crash and lots of intake of breath with pain exploding. In the daylight and with no glare I can see things to the side of me and things right in front of me, making me believe I'm seeing everything, except I'm not. My daily frustration that really makes the doughnut appear obvious to me is my mouse pointer on the computer monitor. I'll be sending the pointer (and yes, the arrow has been made to be big) round the screen for ages before I see it and yet I think I can see everything on the screen! I can see the desk the screen is sitting on, I can see how many applications are open, basically I can see what everyone else see, except I'm not and I won't realise it until I try to find something. Weird right?

Sometimes of course it is noticeable, take the lipreading, depending what distance I am to someone if I look at their eyes I then can't see their mouth and vice versa. This is incredibly annoying as so much communication is lost this way as I have to lipread to help me hear and understand what is being said but then I may miss the humor in the sentence because I haven't seen the twinkle in their eyes.

Of course in the dark it's a completely different story. When it starts getting dark the normal Usher eyesight problems kick in, that is tunnel vision. If someone comes up to me but to the side of me I won't notice, and of course if I don't hear them too I really could be perceived to be ignoring them - except I'm not! Mostly. This starts to happen as soon as it starts to get dim, with one of the hardest things I have to deal with is pubs and bars. After all it's the norm to have the lights turned down to create the right atmosphere isn't it? As I say, a real pain for me.

How am I coping? In the daylight, pretty well considering. At the moment whenever I'm actually in a potentially dangerous situation, like walking (OK that isn't very dangerous, but it could be for me) I look around a lot. Not just moving the head round but moving my eyes around. This is in practice quite hard to do, at least constantly. As I said before because my brain thinks it's seeing everything, it's saying 'Why are you looking around like crazy? You can see everything'. I probably do look like a complete crazy doing it but hey I think it's stopped me crashing into quite a lot, not completely but it's definitely helped some! As for the dim and dark situations, not so well but that's when I get my fantastically bright mini torch out and cling onto anyone that is with me. Mike has gotten quite used to me holding onto other people's arms as a result! After all needs must.

What do you want to be when you grow up?

Being asked that question when I was growing up my answer would always be ‘I want to be a Mummy’. It still is my one constant wish which one day I hopefully will be fulfilling when the time is right. As a result of this dream at the point of getting diagnosed my first thoughts surprisingly were not ‘How am I going to cope?’ or ‘How long till I go blind?’, instead my questions were ‘Will my children get this?’

An answer thankfully is probably not although now dealing with Ushers for as long as I have done, I now am not so worried about my children getting it as I was at first. It turns out that Mike will have to be a carrier of the gene that causes Ushers Syndrome which is apparently unlikely. At the time of trying to find out all this information there was no test to find out, although I was told that there may be by the time we start trying for a baby. Who knows, but it does raise a lot of questions and tells me a lot about myself. For instance had I found out that Mike was a carrier and we could have a high possibility of having a child with Ushers Syndrome I would have been distraught. Having the guilt of passing on this condition would haunt me and whilst it would not have stopped me trying for a baby I felt at the time I would have had an unhappy pregnancy until I knew whether my child had Ushers. Now whilst I know that the guilt would still be there I also know that it wouldn’t be so bad, after all I’m coping and now I’ve settled down to the fact that I’m actually OK I know that any children of mine would also be able to cope too.

Since then my next answer to the question would have been a plumber. Odd choice but growing up I was a bit of a tom boy and I loved the idea of doing something that was so different. I left school at 18 and went to college to train to be a plumber and qualified. I started working during the college years with a plumber and while mostly I enjoyed it I did not enjoy the early starts, late finishes and all the constant dirt! It was during this time in my life that I found out about Ushers Syndrome and I realised that I had a reason why I could not find the screws I’d dropped and it explained why when we went into lofts and under floorboards I struggled to see what I was doing in those dim sometimes black areas.

So I had a decision to make, I realised my dream of starting a business ‘Fair Lady Plumbing’ aimed at single women and old age pensioners would be impossible. Not only I wouldn’t be able to see to do the plumbing work which so often is fiddly but can be in the worse places imaginable but I wouldn’t be able to drive my purple van that I had planned to own with all my plumbing tools. I kept at it for a while but slowly it got to the point I was struggling daily but I think the hardest part was that I was being constantly reminded of my condition. Every time I couldn’t find something I dropped or needed to see where a leak was in a loft and couldn’t I would be reminded why I couldn’t find it – I was going blind.

So I packed it in and started working at the local Post Office. I enjoyed it to a point, it was great socially as I was in the hub of the village and learnt lots of gossip but I wasn’t very happy. I wasn’t doing what I wanted to do and felt that so much of my life had been wasted.

What came next was an interview for the Paediatric Audiology Department which my Mum introduced me to. Since being found to be deaf I’ve been coming to this department for my yearly checkups and new hearing aids. This turning point has turned out to be my lifeline. I got the job and found that I enjoy it far more than ever working as a plumber. Daily I speak to parents of hearing impaired people like me and even though I may not help them constantly I do know what I’m talking about.

So what do I want to be when I grow up? I’m pretty much there, I’ve got a great job, one that I’ll be able to do well into blindness and as for babies that will be happening one day too, there is a little bit of a rush I suppose in that I want to actually see my children grow up but I’m definitely on the right track!

The General Election

I suppose I am doing what most people are trying to do in this country right now – choosing who to vote for. Isn’t it strange that as I look through all the policies what seems to matter most to me is what each party want to do for disabled people?

Maybe it is a little bit selfish although I believe most people are doing the same, examining the proposals of each party and seeing which one they will get the most benefit from by them being in power.

For me I’m interested in disabilities, and I know this is due to my own. So on May 6th I will be voting and it will be for the party who will be helping disabled people the greatest. I am dismayed that some of the biggest rivals in this election have got so little to say for disabled people.

To give advantages to those who have so many disadvantages just seems fair doesn't it?

Independence

Independence, it's something I've been clinging onto ever since getting diagnosed with Ushers. It's been incredibly hard and I've had to change a lot of things to keep a hold of it, worth the change? Definitely.

Take driving, I love to drive, love love love driving, passed at 17 years of age and brought myself a little white rover metro with a choke and yet had remote locking. It was awesome and probably one of the best days of my life was passing my driving test first time. Since then I did a couple of off roading experiences which again were brilliant. Living in a village (nothing ever happens in a village) growing up meant that I had to rely on my parents driving me everywhere, anytime I wanted to see friends, parties and general social gatherings I first had to see if my parents were free to take me. Once I got my metro, named 'Lil Gem' I was free! Independence!!

About 2 years ago the DVLA told me no more driving. That was a truly rubbish day. I truly believed at that point that I had lost my biggest form of independence, which I suppose to an extent is still true. Since then I was allowed to have a disabled train card (⅓ off train fares) and a disabled bus pass meaning free travel on buses. First benefit: suddenly no more commuting costs, first negative: buses from the village leave only once every hour.

So what do you do? Well I moved out of the village, now I live in a town which literally is only a 1 minute walk to the bus stop. I work for the NHS as a secretary in Paediatric Audiology and as a result I need to get to 2 different sites. The bus stop right outside my home will take me to both of these sites in exactly the same amount of time - score! Free transport and quite a lot of ease. I still have crappy days when it's pouring with rain and the bus is running late but hey I'm being very green travelling by public transport.

So for the rest of the time I'm close enough to walk to shops if need be and if I need to travel by car I still have Mike who luckily loves driving and doesn't complain too much when I start backseat driving.

I hate relying on others, I love doing things for myself so one of my biggest concerns is continuing to do things for me by myself. Freedom. So other things I'm preparing for is getting around by myself for when my vision deteriorates even worse.

I recently met up with a social worker who mentioned that I'd be eligible for a hearing dog. Anyone who knows me knows I love dogs and what is a little bit crazy is that I work for a department that works with people with hearing loss and yet I have never ever before that moment imagined that I would be eligible for a hearing dog. I got in touch which they promptly replied saying the waiting list had gotten so long that you couldn't even be put on the waiting list till April 2011! On the positive side however they came back to me saying that due to my condition I might be eligible for a dual trained dog - hearing dog + guide dog! I may not be eligible and I'm still waiting to hear back about meeting both the guide dog people and the hearing dog people but the thought of possibly getting a dog to meet both these needs delights me. Even if it turns out I'm not eligible just yet, my vision is deteriorating so at some point despite losing my vision I can at least look forward to the time that I can get my very own dog to help me.

Till then I'm about to undertake training to use a cane and with the brightest torch I've ever seen I get around ok in the dark.. only the odd trip and bash into a wall or lamp post... and to suffer a little help at the cost of independence would be rather crazy so whenever a friend offers an arm I take that too. A little independence lost but a bit of personal experience gained, not too bad really.

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.

Living with Ushers - Intro to Me

My name is Emma, aged 24 and live in the sometimes sunny but mostly dreary England. I got married to an amazing man called Mike in July 2006 and we are currently looking to buy a new house which I hope will be the family house of my dreams.

In 2005 I was diagnosed with Ushers Syndrome, specifically Type 2a. My family are ever so supportive and in some ways I am very lucky as my younger and only sister too suffers from Ushers meaning I've always a friend to talk to who really understands what is going on. For those who may not know, Ushers Syndrome Type 2 means sufferers have Retinitis Pigmentosa, a deteriorating eyesight condition along with a severe or profound hearing loss.

Since birth I've been severely deaf although I had a late diagnoses at 3½ years of age which resulted in me needing to wear hearing aids in both ears. Loads of speech therapy needed but I feel I have the near perfect English accent that all my friends and family have too.

Recently I decided I should start keeping a diary, how it's been since being diagnosed, what has happened since and what is going to happen. Maybe it will help me, others with Ushers or maybe it will help friends understand a little bit easier what is going on.

After all it is a little bit scary, knowing you're going blind... but hey, there are a lot of positives also, free bus passes, disability allowance, the possibility of a dual trained hearing and guide dog and a few more. I've been told I have a fairly positive outlook on the whole thing, I put this down to being a fairly positive person but I'm also not one to complain or rather only to those closest to me.

So seeing as I don't mind talking about it, maybe it will help, we'll see...