So today is Rare Diseases Day this is a big deal to me, it is a day set aside to highlight that rare diseases exist and improve to treatments as well as improving advocacy for these conditions. You might be asking yourself, Mark why is this day so important to you? or you might be we know why its important to you we have read some of your other stuff or follow you on twitter we know. But for those who don't I am a collector of Rare Diseases they flock to me like I am their puppet master.
But seriously today is important to me because of the tireless work organisations like Rare Diseases Uk who do such a good job of making sure these conditions are known about and that a fully coordinated plan to address rare diseases. It is great work that they do, NORD the National Organisation of Rare Diseases which holds the database on recognised rare disease is another useful resource not just for identifying what is a rare disease but also telling you a bit about them, Symptoms, diagnostics, treatments etc it is a really useful resource.
So let's get down to the nitty-gritty why am I writing a blog, after all, my last umpteen have just been poems so why the divergence? Well it's simple, this is very important to me and needs to be talked about. So why is it important to me after all things are most important when they affect you right? So I must have a rare condition right?
But not just one? So I have 2, nope higher 4, higher, 6 nope higher 7? Yes I have 7 rare conditions and I hear you saying now am I still kicking about and the answer is simple I am held together with love and bluetack. So I hear you asking what rare conditions do you have Mark, Calm down I was just about to get there.
I have Autoimmune: Hemolytic Anemia; Hepatitis; Neutropenia, Immune Thrombocytopenia, Primary Sclerosing Cholangitis, Short Bowel Syndrome and Tinnitus. Now I hear you say Woah Mark you're so greedy why don't you let other people get one. Fair enough I wish I had not been so lucky to have all these issues but like a lot of things in life, there is brightness in even the darkest of times. Living with some of these conditions for nearly two decades teach you somethings.
What have I learned about having rare diseases? First sometimes it takes longer to diagnose than a run of the mill condition as things like Autoimmune Hepatitis are a diagnosis by exclusion ie they test for everything else and if nothing comes up then its that. This means dealing with a lot of its not X,Y and Z before you find out what it is. I am so grateful to all the researchers and Physicians who chose to work on Rare diseases and find new treatments for conditions that have small numbers of people affected.
I would say my rare diseases fall into two tiers the life-altering and Daily impairing. AIN & ITP are Life-Altering AIN makes me highly susceptible to infections meaning especially just now I am extremely worried about any infections going around and any fevers I get. ITP requires me to use a weekly injection which means I can never travel too far from home for more than a few days. The others are Daily impairing Short Bowel requiring Daily medication so I don't lose Litres of fluid through my stoma by slowing my bowels down. AIH & PSC reducing energy and increasing fatigue, intermittently leaving me jaundice and in sever pain and wondering if I will need a transplant. Last but not Least tinnitus its effects are more psychological the constant ringing means if I have to listen closely or if it is quiet I have difficulty thinking or concentrating.
Rare Disease can have huge impacts on peoples lives and often are not really understood by others which means considerations are not always given to their suffers. I just wanted to write this blog to give a little peek into what it is like to have multiple Rare Disease and the difficulties it brings with it and highlight the great work NORD and Rare Disease do to increase awareness and understanding of a whole range of Rare Diseases. Thank you for the hard work both organisations do, it means a lot to me as a patient and me as a human to know that there are people fighting my corner.
