A patient with two rare diseases - Dan's story

The Pituitary Foundation is supporting Rare Disease Day to help raise awareness about rare diseases and their impact on patients' lives. We asked pituitary patient, Dan Jeffries, to write about his experiences of living with two rare conditions, Acromegaly and Wyburn-Mason syndrome.........Rdd Logo Large

February 28th is Rare Disease Day, and The Pituitary Foundation have asked me to write a few words on what it’s like living with a rare condition. Actually, I can go one better, because I’m lucky enough to have two very rare conditions.

‘Lucky? Did he just say lucky?’

OK, so ‘lucky’ might sound like a strange word to use, but when I take a minute to consider what I’ve been through compared to the experiences of others, being this rare feels like a blessing in disguise. And it’s given me a life that I never expected. 

I was born with Wyburn-Mason syndrome, a condition that effects the vascular system and produced what’s known as an Arteriovenous Malformation (AVM). It has left me blind in my left eye and short sighted in the right. 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.

And then - when I was thirty - I discovered I had another rare condition: Acromegaly. Throughout my twenties I knew that something wasn’t 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.

The discovery of my Acromegaly was completely by chance. Bristol Eye Hospital had asked me to be a test patient for some students doing their exams, to see if they could diagnose my Wyburn-Mason syndrome. But because they were on such high alert and looking for any symptom that might be apparent, they all started observing that I had a “protruding jaw, very large hands, an exposed forehead”. I sat there smirking to myself, thinking they had gotten it all wrong. But once four and then five of the students had made the same observations, I got a little concerned.

I asked the consultant what it all meant.

“You should go and see a Doctor. You might have Acromegaly.”

I ran out of the hospital, typed ‘Acromegaly’ into Google and read the symptoms. My jaw dropped. This was it. I knew this was it! It clarified why I had been feeling so terrible 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 are in a terrible shape, and my heart has a leaking valve. Not ideal, but it could be worse.

So that’s why I feel like I’m ‘lucky’? Being this rare is a strange lot to have, but it’s one I wouldn’t change. It’s given me an amazing life story that I’ve been able to turn into a book, a story that has helped others with AVMs and Acromegaly. The feedback has been amazing, particularly from other people who have lived with these rare conditions too. They no longer feel alone. And that’s why Rare Disease Day is so important: because it’s not so rare if people are talking about it.

 

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