Wednesday, 31 August 2011

What I talk about when I talk about talking about things.

Use your blog to connect. Use it as you. Don't 'network' or 'promote.' Just talk. - Neil Gaiman

This is me, talking. Hello.

Today I was given a strange thing to consider. Well, not really to consider, as much as to get my head round. What if you know that in a number of years you might not be able to see anymore? How do you deal with that?

Firstly: I'd like to make a change to the law which means that all audio tapes are, in future, recorded by Alan Rickman. I think that's a given, really, and an entirely reasonable response. I shall be writing to David Cameron about it first thing in the morning. I fully expect him to make it his top priority. 

Secondly: well. Blimey. I'm not sure there is a secondly that isn't extremely rude. In fact, I think it's 0:52 of this video here.  

So yeah. Those who have been following this blog for a while might have read my post about 'Why I Write.' I have a genetic condition called EEC Syndrome, a syndrome caused by a defect in gene p63, a gene in charge of cell reproduction. It causes clefting [more or less of certain things], which means I have missing fingers, toes, teeth, a cleft kidney, and cleft tear ducts. I was born with syndactyly, ectrodactyly, and I've had dozens of operations [the most recent just three months ago]. 

Today I went to see my geneticist to discuss new research which has proved that people with EEC who have eye problems sometimes lose their sight. The p63 gene programs the cornea, which reproduces itself all the time. Eventually it mutates, reproducing differently, until it doesn't reproduce properly at all. Cornea transplants don't work because those with EEC are programmed to destroy the new transplant with damaged cells. 

I've been referred to Moorfields [where I had eye operations as a baby], and a specialist eye geneticist in Northern Ireland. I'm on the waiting list should there be problems and any trials come up. I'm putting my faith in stem cell research. And if it doesn't happen to me, it's still happening to people like me. 

And I'm sitting there, and in my head I'm laughing - because it all sounds so ridiculous, doesn't it? I mean, you piece the science together and it makes sense, but, really - what? 

I'm in a very surreal place right now.

I guess I wanted to say: this is what's happening with me right now. There aren't any 'weird things' or googles or poetry or whatever in this post. This is just what I did today. I've been told things before: I've been told 'you can't' and 'you won't'. I've heard the word 'disability'. And, fuck it, quite frankly. People get knocked down, and, after a think and a hug, they stand up, and they bloody well keep walking.

Even if I do end up walking into the nearest wall because I can't see it. 

Shit happens, doesn't it?  

Lots of love to you all x 


ETA: 19th October: I am now doing a fundraising event to raise money for the research centres who are looking for a cure for this degenerative eye condition. You can find out more information about that over here.


  1. I sometimes wonder if medical professionals are taught to tell people faced with serious injury or disability what they won't be able to do just to kick in that stubborn response. "Nobody's going to tell ME what to do!"

    Good luck with ALL your options.

    Jo (stranger from the other side of the world)

  2. Jen, I haven't been following you long enough to know any of this stuff. I don't have any 'right' words for you, except that I admire your sheer bloody-mindedness. I wish you nothing but the best.

  3. When I was 18 my Ophthalmologist told me I would most likely be blind by 35. I had two worries how would I read, and would I ever see my child's face. At 51 I still see, I need large print, e-books have become my friend and I can only see limited fields. Driving, I stopped 15 years ago, when I could not see my then 2 year old son run up to my car. Car went to charity and I moved my family to a city with a good transit system. I know that at the rate I am going I will be completely blind within a few years. I am learning to tolerate audio books (they are soooo slow) and I can manage braille.

    At 18 they were the scariest words I could think of, now..... many scarier things can and have happened.

  4. I'm sorry to hear this.
    From reading your posts though, I am sure you will soldier through!
    Keep up the good work!
    You are an inspiration to us all.

  5. I'm so sorry you've been dealt such a lousy hand in life, I know it's a huge amount to deal with. I'm a full time carer for my husband who got hit with a rare chronic degenerative disease in his early thirties & I know how angry he gets at the unfairness of it all. I admire your spirit, and that you seem to be squeezing everything you can out of life.
    I hope that there are advances made which mean you never have to deal with losing your sight. Wishing you all the best. Keep your chin up, sweetie.

  6. I don't know you at all. I like your writing, though. *hugs* That's a pretty scary thing to be considering, and I'm impressed that you are this calm and matter-of-fact about it.

    If it helps any, I've spent a lot of time working with people with various disabilities, and there are some really interesting and inventive ways to get through a day in a relatively normal, probably doesn't help. Oh well.

    God luck with whatever comes along.

  7. I once researched and wrote a long feature about happiness because it's a subject that fascinates me. Turns out, people have a sort of base level of happiness that they always return to. Winning the lottery peaks your happiness for a bit but then you settle back to normal. Equally a disfiguring accident will lower your happiness, but only short term - then you bounce back. I don't know you Jen, but from what I've read on this blog you are an intelligent, thoughtful, funny and - in my opinion - naturally happy person. Whatever happens, I'm pretty sure you're going to fight through and be just fine - and probably bless a lot of other people in the process. All my best wishes to you x

  8. That sounds very, very tough to deal with (understatement). Good luck with figuring it all out x

  9. Well, that sucks somewhat but it seems like you are in possession of the best attitude to just get on with life whatever.

    Good luck and here's a virtual hug you will probably never be able to cash in for real.

  10. There is no making sense of the world, sometimes. Especially when a few wonderful people have a whole heap of crap tossed at them, for the majority of their lives. And yet it is oftne these few wonderful people who not only face up to that crap with courage and determination, but bring a huge ray of sunshine into many other people's lives whilst doing it.

    You are one of these wonderful people, Jen, and I wish you all the best for the future, which is about as much as I can do. Apart from buying your book of course. Which I can't wait for.

  11. I don't follow any blogs but yours. I'm so glad to have found you. I am distressed to hear this news and I join you in extremely rude secondly-s, even tho I couldn't view the video at 0:52. I love your writing and your blog and how you view the world. No matter what takes place with your physical vision, your vision and your insight is and will be clear and sharp and bright. I'd give you a big hug if I could. Love from a fan in Oregon USA.

  12. You have my best wishes and sincerest sympathies. That would be one of my worst nightmares. :(

  13. I've been reading your blog for a little while now, and I'm very sorry to hear about this. I don't know you, but I can sympathize with receiving what feels like hopeless news. Best of luck to you.

  14. I'm so sorry to hear this--and I'm deeply moved by your courage. Keep up the good work!

    Best wishes from New Mexico!

  15. Dear Jen,

    Holy shit you just put the crap that's going on in my life in perspective. I want to say I admire your tenacity and all that, and I truly do, but I know that inside you must be cracking, too. It would be normal. Maybe I'm wrong and you are a full-glass kind of girl and your positivity would totally shame me. Well, it already does. But maybe also you are feeling a bit of despair. Not that I want you to be but that would be normal and then I wouldn't want to be insensitive to it.

    And yet what can I do but say I think you're awesome and because you are a a real writer you will figure out a way to overcome blindness, if it does for sure happen, so you can continue doing what you're passionate about. I just closed my eyes and am typing this right now blindly to see what it would be like. Hey, it's okay. Though I admit I'm going to open my eyes afterward to see about mistakes...maybe you'll need a proofreader. Now that's something I, a copyeditor/proofer for 8 years so far, can do that for you.

    Also, at 37 years old, here I am, still with two baby teeth (the third was pulled two years ago because they did see another above it) and you don't have enough. Want mine? :)

  16. I don't know you either, I'm a random follower from the US who just happened to stumble upon your blog, and I don't know quite what to say. I guess I can say I really admire this blog post for your sheer honesty and the fact that you're letting your followers know what's going on. I love that quote by Neil Gaiman and I TOTALLY would give ANYTHING to have Alan Rickman narrate every audio book! Has he done any already, because I don't care what book it is, I'll listen! Anyway, I really hope things work out for you. I'm a firm supporter of stem cell research. It's so amazing what scientists can do with it, if they just have the FUNDING! I'll keep you in my thoughts, continue to follow you, (will definitely get your book asap) and again hope only the best for you.

  17. Jen,

    As so many of these comments are, I am a random follower from the US who stumbled upon "weird things" and stayed for your harry potter-fangirl-awesomeness and other incredibly enjoyable/insightful posts. I just wanted to send a giant hug and positive thoughts across the atlantic and your way. I don't know what's going to happen, but you are a truly wonderful individual and I am sure that whatever happens, you will get through it amazingly. Seriously, sending love and support.
    P.S. Alan Rickman should most definitely record all audio tapes always, forever. And anything else that requires a voice for that matter!

  18. Hi Jen, I've been following you for quite a while now - both on the blog and on twitter - but I've never yet commented. However, I love your posts, can't wait to buy the book and always look forward to your 'Weird Things People Say In Bookshops' because I know that it'll make me laugh out loud enough that my family will ask me to share the joke but also leave me speechless and indignant at the rudeness you have to deal with every day!

    I admire your hope and your perseverance and I really hope that treatment becomes available for you. Whatever the outcome I hope you will stay strong and find some comfort in us, your bunch of dedicated readers who are willing you to be ok. You are amazing and I only wish I lived nearer to London so that I could visit your bookshop and hang around long enough to spot a person saying something weird. I enjoy whatever you write about on here and long may it continue.

    Wishing you the very best, Alexandra xx

    P.S. Your tweets always make me smile x

  19. Good advice from Neil, and you're pretty incredible too.

  20. Wishing you the best,,,,,,,,,,,,

  21. just read this new entry on your blog and realise why I follow you on twitter, you are witty in times of adversity, so full of commonsense and not one to cry 'why me' which I'm sure I might have done in your place. Your blog is a pleasure to read...Best wishes for the future, whatever it throws at you I'm sure you'll be more than a match :)

  22. Jen, like some of the above I haven't been following you long enough to know any of this (but believe me, there will be google searches quite shortly here).

    I just wanted to pass on my best wishes and I hope that any and all of your options open up as successful paths moving forward.

    And if you do loose your sight: Dragon Naturally Speaking + a beta reader means you won't have to give up any writing or dreams of publication.

    Just Keep Swimming.

  23. I've just been directed to your blog by my daughter and I have to admit I like your style and admire your spirit. I'm adding you to my blogroll as of now! Life isn't always fair - is it ever? - but it's what we make of ourselves that really counts. Good luck with the medics, sometimes they paint in the doom and gloom when it's a 'maybe' just in case.

  24. My dad was in an accident when he was sixteen, paralising the left side of his body completely. The doctors told him he would probably be in bed or at best a wheelchair for life. The next day he was standing next to his bed without support out of sheer stubbornness.
    Now, at 61 he walks (with a limp), drives (with a special adjustment because he can't use his left hand properly), he runs a museum (6 days a week), and he lives on his own without assistance in a third floor appartment in a building with no lift.

    I guess what I'm trying to say is: stay stubborn and keep fighting for your autonomy, 'disabled' people are capable of so much more than they're given credit for.

  25. Shit, that really sucks. I guess you've got to soak in everything while you can and you can still use this experience to connect with other people, to write and inspire.
    I really admire your resilience and agree with your comments about audiotapes ... mostly. I'd make an audiotape team out of Alan Rickman, Stephen Fry and David Tennant. Maybe Benedict Cumberbatch would do some freelance work for them.

  26. I haven't been following long enough to really know if this could be construed as offensive, but I certainly hope not--

    God be with you.

    It's a terrifying thought for me to have, losing anything like that, and the grace with which you have posted your thoughts is quite impressive. Maintain your grace, maintain your humour, and God be with you.

  27. Jen, you are such an immense and incredible inspiration to me and to countless others.

  28. I think it's amazing that you do so much so well with so much sh1t on your plate. Keep on keeping on! x

  29. and still you make me laugh. Oh, Jen, I am in awe.

  30. Jen,

    I totally agree that all future audio tapes should be recorded by Alan Rickman. I love his voice & his acting.

    Your story and tenacity are quite inspiring. I love your blogs and look forward very much to reading "Weird Things...," even if I have to cross "the pond" to buy it. I've plans to visit Ireland & UK in April 2012, hopefully about the time your book is released!

    Best Wishes,
    Wendy (from across the pond)