I was born in the UK in the winter of 1976, a healthy baby girl. 8lb 6oz, ten fingers, ten toes and all the cute sqidgy features that you’d hope for when it comes to your precious bundle of joy….Who am I kidding, the truth is we all enter this world shriveled, pruney and covered in yucky stuff!…Ok well after I’d been wiped off, made to cry or at least make some sort of noise to prove I was alive. Every thing was deemed ‘normal’.
It was not until I was 3yrs old that anything would change. My mum noticed that I had started falling over more then the average toddler, so much so that she took me to see a Dr at the local hospital in Medway Kent. The Dr looked at me and said “She’s just a clumsy cart-horse!” and off he sent us. My Mum was not too happy with that assessment and decided to give it another go, so with another appointment made through my local GP of we went again just to be faced with the same Dr. The assessment came back again “She’s just a clumsy cart-horse!”. At this point I’m sure that my mum thought she was loosing her mind either that or she didn’t know where to turn…probably both!
It wasn’t until I was 8 years old that I was seen at Great Ormond Street Hospital in London after it was suggested by my headmistress during a coversation my Mum had with her expressing her worries. This time both Mum and Dad came along for the ride. Off we set by train to Russell Square Underground station. I loved trains back then, not so much now since gapophobia(fear of the gap between the train and the station…I don’t know about now but back then it could be huge at times!) has taken hold of my life. I dragged Mum and Dad up all 160 odd stairs and still had breath left, which is probably more then I can say for them the poor pair, good job the hospital was only around the corner!.
I was taken into a room and given a physical assessment, I was then diagnosed as being ‘mildly spastic’….’Spastic’ a term which would later be replaced with Cerebral Palsy in the medical books. I was assigned a physiotherapist who would see me once a year at Great Ormond Street Hospital to show me some exercises to help me hold the ‘spasticity’ at bay. The physiotherapy exercises helped with the spasticity for many years. I was told at the age of 15, after my last physiotherapy session at Great Ormond Street Hospital that I would no longer able to attend the hospital for further physiotherapy sessions as it is a childrens hospital and I would be deemed to be an adult patient by the next appointment.
I hit the age of 16 and got to the end of my GCSEs and was set to go to college to study a first diploma in IT, I’d wanted to become a computer programer since I was about 8 years old. I got through the course with a passing grade but I decided that IT was not something I was interested in, to be honest I hated computers by that point and decided that I would try to get on an apprenticeship scheme in electronics, I’d been taught a little bit about electronics during my first diploma. The two businesses that showed any interest decided that I was not the right candidate, so I decided to go back to college to study a BTEC in business and finance, I did 1 year of the course but was told on my return for the second year that I hadn’t done enough work, so I decided to leave and get a job. It took me a year to get a job but finally I got one, I would be working part time as a cashier at a local supermarket. I loved that job but after only a few years I was unable to continue working there, as I was finding that my physical health stopping me from doing so.
Two years previous to me giving up my work as a cashier I had been refered to a neurologist after finding that loud noises like the security alarm at the supermarket beeping to tell us to get out before the alarm went off to inform the police, rendered me unable to walk(Mum had noticed the sensitivity to loud noises when I was small) and I had started getting dizzy spells.
Meanwhile the ‘spasticity’ was really taking a turn for the worse and my walking started taking on the appearance of your average party girl on her way home from a night out on the town, my speach wasn’t fairing much better either. I once heard a kid say “That woman is always drunk” as I walked past him and a group of his friends, to which I said “I’m not drunk I’m disabled”.
After a visit to see a local neurologist(I’m not sure which neurologist, I’ve had a few) I was sent to have a sleep EEG in London, my Dad accompanied me on that occasion. The results came back and I was diagnosed with epilepsy. I got given some anti-epileptic drugs, which I took for a while but the drugs made me unable to walk.
I took myself off of the drugs, backed up by my local GP and got refered back to the local neurologist. Shortly after, the neurologist decided that my case was to complicated for him and he refered me to Dr Chris Shaw(now a Professor of neurology). He was positioned at Guys Hospital London at the time.
So off to London Bridge station we went, Mum, Dad and myself. That’s where the gapophobia really started to take hold, the train seemed so far away from the station and with a shortened gait from the spasticity it was hard to bridge that gap.
I had started using crutches to help me with my walking at that stage and getting down the steps at the other side of the bridge was clumsy but I managed.
In the first appointment with Dr Chris Shaw family medical history was talked about, that’s when my Mum spoke of the two children my Aunt and Uncle lost(not lost as in “Oh where have they gone?” but lost because they died about 10 years before I was born).
We had never talked about it, I’m not saying that I wasn’t aware that they had existed but because it was never talked about, it never occured to me to mention it to previous neurologists.
By the following appointment which was very soon after, Dr Shaw had spoken with my Aunt and Uncle and with the information of the events surrounding the deaths of my two Cousins. We were all to attend that appointment, Mum, Dad, my two sisters and myself.
We all got some blood drawn and were all too come back for an appointment in two weeks.
That appointment was to be the one, the appointment where I’d finally get some answers. They certainly weren’t answers that anyone would want to hear. I was dying of a Leukodystrophy called Krabbe(pronounced Krab-ay) the same disease that my two Cousins had died from 10 years before I was born.
Krabbe usually affects babies in the infantile form, they generally die in the first 2 years of their life.
So there I was 23 years old, being told I’m dying and that within two years I’d most likely be unable to walk, unable to speak, being fed through a tube into my stomach and being cared for 24/7. There was hope though, I could have a stem-cell transplant that could stop the progression or slow it down but could also course death through Graph vs Host disease. I was lucky at least I got a choice of a better tomorrow, the Krabbe babbies seldom do unless they have already had a sibling that died/is dying from this damned disease that shuts the body down bit by bit.