Being RareDate:29 August 2017
On the 1st and 2nd of November it’s the Rare Diseases and Orphan Drugs Global Forum in Belgrade and I am fortunate enough to be talking at what promises to be a fascinating event.
I’m not a health specialist and I don’t work in the industry. So why am I there? Because I’m an advocate of living with not one but two rare diseases.
It might sound a little perverse, but I feel almost lucky to have experienced two rare medical conditions.
I was born with Wyburn-Mason syndrome, an extremely rare non-hereditary disorder. It produced AVMs (artereiovenous malformations) which affect the blood vessels, specifically the arteries, veins and capillaries. I have a large AVM, which means a tangled mass of abnormal and malformed blood vessels around my eye and midbrain. I was unfortunate enough to discover that - at aged four - it had left me blind in my left eye and short sighted in the other. And that’s totally blind. No light, no shadows; nothing.
Being rare meant that I had frequent visits to Bristol Eye Hospital. I was originally told that my condition affected one in three million people. I later found out that there have only been around thirty reported cases in the last fifty years — worldwide. That’s pretty damn rare.
However, whilst inconvenient, it didn’t stop my day to day living. I couldn’t play Rugby at school (a blessing in disguise) for fear that a knock on the head might cause further damage. So I played snooker instead, a sport that I was particularly good at, no doubt due to my narrow field of vision. I also discovered I was very creative, with a real passion for theatre and music. I went to University and studied Drama for four years and during that time started writing music and became resident DJ. I was, you might say, a creative little soul.
However, a couple of years after returning back to Bristol, I started to feel that something wasn’t quite right. I felt lethargic, had no confidence, didn’t want to be creative and was a total flop in bed. And I didn’t know why. I guessed this was just ‘middle age’ creeping up on me. But before I was thirty? That just didn’t feel right.
And then I received a letter that would change my life.
Bristol Eye Hospital asked me to be a test patient for some students doing their final year exams, to see if they could diagnose my Wyburn-Mason syndrome. Always happy to help, I agreed to attend (plus they would pay me £15). I was also intrigued to see if anyone could diagnose my condition. I thought it unlikely.
The first student entered the room and, before even looking in my eyes, the consultant asked her for an initial diagnosis. She took a step back, thought for a minute and said:
“He has very large hands, a protruding jaw, exposed forehead”.
“And why do you think this might be?” asked the consultant.
“Could be due to excessive release of growth hormones due to a pituitary adenoma”.
I didn’t know what this meant, but I knew she had got it wrong and chuckled to myself. But when the second and third and forth students all said the same thing, I began to worry.
I asked the consultant what it all meant.
“You should go and see a Doctor. You might have something called Acromegaly.”
I ran out of the hospital, typed ‘Acromegaly’ in to Google — and my jaw dropped. I had a tumour? I read the symptoms too: enlarged facial features, bigger feet, lack of libido, lethargy and more. This was it. I knew this was it! It clarified why I had been feeling so terrible all these years and suddenly I felt elated; at last there was an explanation.
That was back in 2007 and since then life has continued to be a pretty exciting rollercoaster. Yes the tumour has gone, but the repercussions of that 7mm lump of goo are still evident today. My teeth have suffered terribly and are a constant problem, and I have a leaking heart valve too. But these are all manageable things and, on the whole, I feel like a new man, so much so that I wrote a book about the whole experience. That was published in 2015 and the feedback has been amazing, from specialists and Acromegalics alike.
So I’m really excited and quite honoured to be able to talk at this years conference, to share my experiences of what it means to be rare and, if it can help the industry in any way, then that’s a great step forward.