Tag Archive for Moorfields

Encouraging 100,000 Genome update

Back in 2014 after initial genetic screening was ‘inconclusive’ Proffessor Moore at Moorfields ask my permission to enter my blood into the 100,000 Genome Project. A project conducted by the NHS looking specifically at cancers and rare diseases to support treatments, diagnosis and research. (For full details on the project please visit https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project)

As the name suggests it is a research programme that looks at all 100,000 genes. So I was advised it would take some time before any results were expected back.

However, Prof had felt that given my various conditions that were going on with my eyes I would most likely have some interesting results come back.

Fast forward 5 years and this arrived in the post.

Photograph shows a letter, blood form and plastic canister for holding blood vile in

Preliminary results for my genes are in, but to look at these in more detail I have been asked to send in more blood! Thankfully I was able to book in with my local doctors surgery and pop my samples back in the post. (Which is exactly what I did)

In the meantime I had my bi-annual visit to Moorfields, where the registra I saw started to explain the preliminary findings; Prof wasn’t wrong in his thoughts !!!

Which all I can say at this time is that they are most certainly interesting and not what was suspected at all. Not in a bad way, no illnesses or disturbing diseases were discovered; but in a way that has opened more questions than it has answered.

So, now to wait up to a year for the detail results to come back and hopefully a clearer understanding….. Watch this space.

It’s official, I am annoying !!

Last week saw me attend my 9 monthly checkup at Moorfields eye hospital.

My condition LCA is grouped in with RP, retinitis pigmentosa, as it includes many of the se characteristics like night blindness, loss of peripheral vision. With LCA – Labers Congenital Amarosa, I also suffer with myopia (severe short-sightedness) and nystagmus (involuntary eye movement that is continual)

I am now down to finger counting in both eyes, when I used to get the top line of the eye chart stood at half the distance in my rift eye.

Given that six years ago I was between the second and third line on the eye chart (depending on the letters)

I have an incredibly strong prescription lenses, which is what gives me the sight I explained above. Without any glasses it is purely light and colour I can see without holding something above the top of my nose!

Please don’t be reading this and feel sorry for me, my sight is what it is, yes it may be worse than most, but it is much better than some.

So, up at Moorfields for my nine monthly check, I have noticed many little issues in the past few months and with the puppy being off work, I was even more aware of differences from the last time I had used my cane like this.

The long and the short of it, after four hours seeing a consultant, an eye scanning team, a retinal photographer, a registra and then my Proffessor, I have an increase in my cataracts (but not enough that they would risk laser surgery with my nystagmus) I have more noticable ‘floaters’ parts of my retina that is moving around in the eye jelly, a deteriation of my peripheral.

I can no longer do the peripheral eye test where you stick your head in a white bowl like test machine, stare at the red dot in the middle and press the button when you see a green dot.

Now they use the images they get from the scans and photo’s to tell me about my percentages. I have a difference of 21% from eighteen months ago, which sounds significant, but when I have less than 10% periferal it is even more…. I am not a mathamatitain, but even I can work out that that is a lot.

The cataracts are causing everything to feel as if it is either darker than it used to be or is unbearably bright when I have been in a darker environment.

So, the main reason I go to Moorfields is because I am part of DNA study to help with genetics for RP and LCA. So far they have found and researched 14 different genes…… And then there is me!

I told the registra that I liked to be different, he said I wasn’t different I was annoying. He actually called me annoying.

But then the Prof came in to see me, telling me of another study that I could be part of, very simple blood sample is all they need. He reminded me that my condition was definately not ticking any of the right boxes at the moment and making his and the research teams work ever harder. But that at the same time, he still found my scans and photographs magical.

So, I am offically annoying.

And that is exactly what is now written in my hospital notes too !!!

London – A Big Journey

It’s 4am & the alarm is set for 6.20am. But after a week of knowing about today, it has arrived. Today I travel to London, a part of the capital I have been to many times but never alone. Ofcourse I will have my trusty guide dog (GD) by my side, but no human support. In addition, today is a bigger step as it is the first time EVER that I will use the tube alone, the first time for me using a tube since my sight deteriorated & remembering back I was about 12 the last time, so lots would probably have changed in 20 years!

The reason for this is an important eye appointment at Moorefields Eye Hospital on City Road. For which I got just 7 days notice. This in itself makes today scary, but I’ll talk about that a bit more later.

The reason this is such a big thing is because as I mentioned briefly before, I have a GD, I am registered blind with a deteriorating congenital condition from which I have some sight, but in general terms its not good.

Yes I did say I’m registered blind, but that doesn’t mean that I can’t see anything… A very common misconception, one I myself used to believe before all of this. My condition has long fancy names, but in layman’s terms, my distance vision means that I struggle to see the detail of someone’s face, when they stand directly in front of me and I have severe tunnel vision, like looking through the tubes on the inside of Christmas wrapping paper, I can’t even see the arms on my glasses anymore if I’m looking forward.

Yes, I wear glasses and what I have just described is the best corrected vision I have when I wear them. Without them, anything more than 2 inches away is a blur. Again, another preconception of many is that glasses fully correct your vision, they don’t and that is often the reason I get stopped with my GD as people think I’m training her, not using her as my work partner

Sorry I went off on a tangent, you’ll get used to me!

I have travelled to London several times since November 2011 on my own since making regular visits to the head office of RNIB (Royal National Institute for the Blind) having gone once with a colleague who showed me the stations to change at, we always went by train, never via the tube as she herself did not like the tube.

Rnib HO is situated several minutes walk from St. Pancras. Which is now home to the Eurostar, making it with its small train station at the far end, one of the busiest station in London. It is filled with designer stores, coffee shops and ofcourse, hundreds of thousands of tourists and businessmen and women. So that in itself if no mean feet, and one thankfully I have only ever had to tackle without my GD on one occasion. When we get there, she takes over, goes into her mummy mode and guides me safely through the crowns, the luggage, the hectic, noisy, smelly surroundings without a moments hesitation.

Today my journey consists of many of the same stations as this that journey, to help me keep some control and familiarity over what I am doing. We break our train journey early, having changed at Three-Bridges, when we arrive at London Bridge.. Another station with its own shopping centre attached, to go down from the train platform into the basement to join the Northern line Tube. The journey has been planned in a way that I need only use one tube, on one line and not need to change. From Tower Bridge, Old Street just a moments walk from the hospital is just 3 stops away.

Yes I know that trains now all have audio and explain what stations they are stopping at, but on my other travel companion, my iPad is a list of all of the stations each of the trains and tubes I will be traveling on stop at and even the trains surrounding my chosen journey incase alterations need to he made.

I’m.a planner and and organiser, often taking this to extremes in trying to do this with other people and their lives, but it is how I can keep my control. A word and emotion that is incredibly important to me in this ever decreasing world.

HEADING HOME

we made it!

Although I am unable to fault the help and support that I received from the underground staff, I have to say that the information I had received about the stations I was travelling between was completely misleading and very unhelpful.

Walking up and down an escalator that was switched off as the GD is not cleared to use them was very exhausting on the way up…. And even more scary on the way down, with over 215 steps in total in each direction, it was on a positive note a bloody good workout for my thighs!

London bridge station is accessible and one of the highest awarded for this in London, but if you need the lift, be prepared to walk. With the nature of the buildings and ages of them that house the tubes, accessibility is always an issue and one that I underhand. I am more than happy to have to do things differently and as said, I couldn’t fault the staff, they even walked with me out in the rain to get the lift, take me to the platform, sit me on a train and radio ahead to ensure that there was someone waiting at the other end to do the same. But the information available as to how the stations are accessible is limited to lifts and flat access onto the tube.

There is not a one size fits all solution to accessibly and disability issues, but information and the web is infinite, so this could be done.

As a blindie I rely heavily on google maps and google earth to do a virtual walk around from the comfort of home…. Could you do this for a train or tube station?

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