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Please allow me to introduce myself…
I suffer from Becker’s variant of Myotonia Congenita, which is a rare muscular condition. It is characterised by muscle stiffness resulting from an inability of the skeletal muscles to relax immediately after exertion. A mutation on the CLN1 gene renders the channels that feed chloride to muscles cells inefficient, it is therefore classed as a channelopathy. There is a large variation in both the type and degree of symptoms experienced between individuals. The commonest symptoms are muscles stiffness, muscle enlargement, sluggishness of movement, muscles cramps and muscle weakness. Some people have Myotonia Congenita and are never aware of it whereas for others it is a major disability; I fall into the last category.
There is no dedicated treatment for Myotonia Congenita although many sufferers have responded well to certain drugs, such as Mexilitine, that reduce the myotonic symptoms as a side-effect.
The fainting goats are the most famous example of animals suffering with myotonia but it has also been identified in both horses and dogs.
My condition is complicated by also having Spina Bifida Occulta, which is causing a progressive deformity to both my feet. Combined with the myotonia this gives me problems with my balance and difficulty in walking or standing up for any length of time.
Obviously I have had both conditions since birth and they became worse as I grew older. My myotonic symptoms are severe enough to disqualify me from holding a driving licence and makes getting on and off public transport a real challenge. Walking on slippery surfaces is always dangerous as my feet twist underneath me as I complete each step. Despite having these severe symptoms it took me 30 years to qualify for DLA and I believe that the turning point was when I found a medical paper on the internet written about me when I was a child patient. I submitted it as evidence in my last application.
On the plus side I’ve managed to live a fairly full life. I’ve travelled around Europe, been to lots of concerts, followed my football team to Wembley and into the Premier League (then out of it again), married the woman of my dreams, had children, spent more time in work than out, and had a mostly healthy life. If I was to sum myself up in a few words it would be “an insufferable optimist”!
Re: Please allow me to introduce myself…I am an optomistic pessimist – the glass might be half full but I bet it is undrinkable
I’ve done a reasonable amount of travelling myself around Europe and some places in the USA, done some tall ship sailing too, and gigging but am a home-bird now. I’ll forgive you the football, can’t see the point of the ‘game’ especially as its become just a money pit, but the same can be said for all sport these days. Are there any born and bred english players playing in any english hoofball teams??
I think my new hobby is going to be ‘resting’ .. and maybe practising how to pick up a pound coin, lmao!
I'm always the animal, my body's the cage
I blog about nothingness www.amgroves.com
Re: Please allow me to introduce myself…I read some of your adventures on your blogsite…thing! Very impressive. I like being on board ships too but I can’t swim so my wife doesn’t let me out on the water too often.
I’m sorry about the football but my father took when I was a kid so I became infected at an early age and it’s never left me. On the whole football at the top level is obsessed with money and the media don’t rate any team lower than the top four, but it’s a different story when I’m actually at a match with my son; I come alive then and it makes the week of boring office work worthwhile.
I’m recovering from major reconstructive surgery on my foot and my club has been very good to me, they’ve let me use a wheelchair space so that I’ve not missed a single game this season.
I’m also growing a bit long in the touth these days but I did get to see Jools Holland in concert last year, that was very entertaining!
Re: Please allow me to introduce myself…@tygertyger wrote:
I’m also growing a bit long in the touth these days but I did get to see Jools Holland in concert last year, that was very entertaining!
OMG I love Jools, Gilson and the gang. I have seen him twice at my local University and once at a Park gig, I work my buttocks off bopping and boogying to the tunes. Ruby has a fine pair of lungs on her :o) and who cannot love Rico! I have several of the cd’s and a hush-hush copy of a The Tube special he did when he visited New Orleans .
Have you read his biography? It is a fantastic read
I'm always the animal, my body's the cage
I blog about nothingness www.amgroves.com
Re: Please allow me to introduce myself…Jools was brilliant, he had Alison Moyet as a guest and she had such a terrific voice. The whole show was none stop fun, I would recommend him to anyone who enjoys live music. I haven’t got round to reading his biography yet but I probably will as I do enjoy reading about people’s lives.
Re: Please allow me to introduce myself…Ooh! I love Jules too! Saw him years ago T Lancaster Uni where my familly lives. My mu
was great freinds with a good freind of his. After the gig they went back to a local blues pub and Jules and my mums mates son played together sook cool!. I also love watching Later with jules Holland but rary get to watch it as my familly have no taste.
Myotonia is also present in many other conditions, I suffer from it too along with my Periodic Paralysis, I get random muscle twiches and my muscles cramp up and won’t realease.
The DLA are a bunch of W****** :evil: sorry I have tourettes too lol! I do!
I got DLA years ago even though no-one was sure what I was sufferring from. But when after yrs of getting progressively worse
I applied to be reasessed silly me!
They took my life award off me, so I appealed & got my benifit back but they wouldn’t increase it even though I was in a wheelchair & couldn’t stand at all! Or use my arms properly!
The worst part was the personal hygiene questioning by a …..wait for it.. Other disabled person in a wheelchair with her arms in splints and a PA!!!! Argh what the hell goes on their evil heads?
We should fight fight fight. I’m going to appeal again & if necessary go to the house of Lords to ask them define on disability and classifiction of certain deseases as the DLA make up their own rules! This is the only way my hubby says & he’s a Barrister. You know you can ask them to backdate further than 3 mths if they should have awarded it in the first place!
We should a fight them and launch class actions against them! They are not above the law!
Stay strong! X
michelleRe: Please allow me to introduce myself…Omg! Everytime I post I look at it and go argh as my predicta tx on my iPhone makes my spelling even worse than it usually!
Sorry!Re: Please allow me to introduce myself…I’ve spent so long posting on the internet that I don’t worry about people’s spelling, as long as I can understand what they mean that will do for me.
After 30 years I was just relieved to finally get the DLA, several people suggested asking for it being backdated to my first application but to be honest I just needed a rest from it all; so many raised hopes dashed by disappointment that when I finally got the award I was content. Obviously all that is going to change in 2013.
Myotonic syptoms occur in other myopathies but Myotonia Congenita is a specific condition that is both well understood and hardly treated due to the low instance of cases.
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