Today, February 28th 2015 is Rare Disease Day. Exactly two years ago on February 28th 2013 my life was completely turned upside down. I was rushed to hospital during the middle of the night because I was throwing up blood, a lot of it.!The rare liver disease I was diagnosed with when I was 17 had progressed dramatically and unexpectedly.
Three weeks before this I had been for my usual check up with my consultant having just returned from a three month trip to Canada. All of my bloods and other tests came back fine, nothing out of the ordinary (for me) was going on. My consultant told me that I could return to Canada at the end of the year like I hoped, there was nothing showing up that was going to stop me. Little did I, or he know what was about to happen. That’s the thing with the liver disease I had; Primary Sclerosing Cholangitis, it is so poorly understood, so unpredictable and pretty much unresponsive to treatment that is currently available for it. It basically does whatever it wants. It’s cruel and scary.
I stayed in hospital for ten days after that first bleed. I came home knowing that my PSC was a lot more advanced and that my life was going to have to be quite different but I wasn’t quite aware or ready for what lay ahead.
Three weeks later I suffered more internal bleeding and had to have a stent put into my liver to stop the bleeds. it was at this point that my team of doctors knew they were running out of options. All options except one; a liver transplant.
Ever since I was diagnosed with PSC in 2006, I knew that a transplant might have been necessary for me one day but I also knew that many people with PSC lived their whole lives without many problems and often dying of something else. I lived my life as ‘normally’ as I possibly could and never let PSC stop me from doing anything I wanted, I was clinging onto the hope that I would be one of those people who wouldn’t have to deal with its awful consequences. I never thought at the age of 23 I would be waiting for a new liver, I never thought my only hope of living the rest of my adult life would be to have the liver I was born with taken out of me and replaced by somebody else’s. I still can’t really get my head around that even though it has now happened.
The reason I am writing this today and trying to raise awareness of Rare Disease Day is because there are so many rare diseases and so many sufferers that need our understanding. There are tons of reasons why living with a rare disease is difficult: the general public don’t understand them, they’re often disregarded as serious by people because they don’t understand them, because they’ve never heard of them or because they sometimes show no obvious signs or symptoms. Patients are the experts in their conditions, we often have to educate our doctors which is quite overwhelming and worrying for patients, rare conditions are regularly misdiagnosed for a long time, which in some cases means it’s too late for successful treatments but to me, the most important thing to draw attention to is that if there were more awareness there might be more research and therefore more cures and treatments. I am just one person and PSC is just one rare disease but by doing my best to raise awareness, raising money, helping people understand, helping others to feel less alone I hope that I can make a difference, even the smallest one.
If you’d like to do something today to raise much needed awareness of rare diseases, please share the info graphic below.
I know it’s been a really long time since I last posted, I promise to do a proper update soon! I’m going to Oxford today for the PSC Support meeting so I will also write a post about that, hopefully in the next week or so.
Thanks for reading x