My life with Krabbe Leukodystrophy – Georgina Knott

FB_IMG_1480108659147I was born in the UK in the winter of 1975/76, 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 conversation 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 be 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.

I was left in a room with my family to discuss it and make a choice on whether to go ahead with the transplant, although I had already made my mind up if the truth be told but I wasn’t the only one that that had a choice to make, there was also the choice that my sister had to make as to whether she was going to donate the stem cells needed. This was to be be not only the first time stem cells had been extracted from a adult human being from the UK but also a world first for a Krabbe patient to receive stem cells from an adult donor after a reduced amount of chemotherapy. With both my sister and myself in agreement that we were both willing to go ahead with the process everything was put in place and numerous appointments for my sister and I were made.

At the end of January 2000 I started on my course of chemotherapy at King’s College Hospital, it wasn’t too bad at first, around day 5 the effects started taking hold with a general feeling of being on another planet, diarrhoea and an inability to walk due to the anti epilepsy drug I was given, I knew this would happen before the process started but that didn’t stop me from trying to make a dash for the toilet and ending up in a heap on the floor. I finally gave in and asked for a camode a few days later.

The transplant was set up to take place on the 9th of February 2000 the day before my 24th birthday, my friends had made sure to tell the ward staff that this was the case when they descended on my room a few days before.

8th of February my Mum and Dad came down to London from Yorkshire, they had moved to Yorkshire just a while before I got diagnosed with Krabbe. They set up camp in my Uncle and Aunt’s spare room as it was closer then my flat and let’s be honest who really wants to tackle the M25 on a daily basis if they don’t have to.

The 9th of February arrived with a sense of trepidation. The stem cells were brought in and everything was set to go, the stem cells started running through the tube that was connected to the hickman line that I had received the chemo drugs through for the previous 10 days. My heart was beating so fast that I was eventually sick but it was all over relatively quickly.

Day 1 post transplant, my 24th birthday arrived. It started with breakfast which quite quickly got regurgitated back into a cardboard bowler hat type of contraption, this being a new normal for the two weeks that followed. My hair got shaved off and I was issued with a wig.

In the three days following the transplant graph VS host disease put in an appearance and steroids were prescribed, luckily it only took one dose of steroids to keep it at bay.

By the end of my 4th week in hospital my neutrophils had raised to a level that meant I could be moved to an open ward. I was kept on that ward for a further two weeks so that the Dr’s could keep an eye on me and the nurses could deliver the injections into my stomach that would stimulate the stem cells to keep up production.

There was only one thing left to do so that I could be discharged and that was to detach the hickman line……………….. Yay freedom!!. If only it was that easy, in fact it took 9 doses of local anesthetic and a lot of chipping away at the blood clot that had formed around the tubing and even then, I could feel what was happening but I’d got to the point of not caring any longer. Eventually I got discharged after a long chat with the Dr but that didn’t quite go as planned. I was really looking forward to going home but wasn’t allowed to because care wasn’t set up yet. Yeah you’ve got it, even in 2000 care when leaving hospital was hard to come by, so off I went with bags in hand to stay at my Mum and Dad’s house in Yorkshire.

For the next month life was a little bit crazy what with the miriad of drugs that had to be taken at all different times of the day and the two hospital trips per week, one to a hospital In Hull for bloods and the other one back in London at King’s college. There was certainly a lot of miles added to the mileometer of Mum and Dad’s car.

During the following months the amount of drugs administered were lowered and the transplant was considered a success. Whilst being considered a success does not mean that what once was is no longer, I am now 41yrs old and although there have been other issues that have popped up along the way I am in relatively good health. I have been able to do many things that most of the Leukodystrophy kids will never get to do.

There are 51 known forms of Leukodystrophy, none have a cure at this time. They are all devastating genetic childhood illnesses that cause damage to the whitematter of the brain but yet none are included in the new-born screening process in the UK.

I share my story in memory of my cousins David and Tonia and all the little angels of Leukodystrophy.