The story of Siobhan
I am Canadian born of Irish immigrant parents so the first rare disease your mind might jump to is Hereditary Hemochromatosis and your assumption would be correct. When I was first diagnosed I was in my 40s my genetic mutations are C282y x2. The average person’s rate of iron in their blood should be between 8 and 50.. when diagnosed I was 1500…. but my story alas does not end there. I have had many medical problems for a very very long time and can remember being the only one in our family that was this way. Although HH causes many many health problems if it is not caught early enough it was not the answer to all of my issues. I also suffer from Relapsing Polychondritis (diagnosed in my 30s) which is the cartilage which is the connective tissue throughout our body and it flares, comes and goes but when it stays for a while the pain will drop you to your knees this is also an autoimmune disorder. Now I would like to say that it ends there but no. I also suffer from Achalasia. I am losing the ability to swallow. I have had the surgeries and avoid many things but still it is coming. Along with these three headliners are the fall out issues that inevitably follow Arthritis, IBS Irritable Bowel Syndrome, 28 Food Intolerance, Anxiety and Depression ……. I am now loosing the use of my bladder and am left with catheterizing …… I am only 52 There are no cures for these rare diseases….we need more attention brought to these and all the rare conditions, we need not be embarrassed or ashamed because then we are hidden and no one knows our pain but ourselves and our doctors so we need to shout it from the roof tops and get attention for the medical research and development of new and better ways of dealing with our people’s pain. The first of my rare diseases is said to have been derived from the vikings and is prominent everywhere in Europe where they were and where they traveled to and now their descendants are carriers and when they meet another it is recreated once more. I have had severe head trauma with my skull broken which I feel needs more investigation, perhaps it will shed some light on the story. The other conditions that I am plagued with are not specific to any race, color, creed, or socioeconomic background…. these attack anyone anytime……. we need answers and help……. Every time I hear of another support group through social media I am thrilled that I AM NOT ALONE and we will all shout together to be heard……. Thank you for recognizing that February 28th is now Rare Disease Day so that many more people can and will be helped and the first step for me was realizing that I was not alone and together neither are you. I want to live for a very long time yet and although existing is tough, really tough sometimes, I made it my New Year’s resolution to be Braver and Stronger as I face each day forward.