Rare Diseases Day 2023

 Today is Rare Diseases Day. I’m going to try and paint a colourful picture of what life is like when you are diagnosed with a rare disease. 

I was in my early 30s when diagnosed with the rare blood cancer MDS (Myelo Dysplastic Syndrome) This is an illness that affects more men than women and also occurs more in people 60 plus. I was a young fit football playing hard working manager of a women’s centre. I did not fit the typical picture. 

Many of us now understand the economy of scale when it comes to health now. The pandemic has created a mass of data that will be analysed for years to come. Because so many people have had covid all medics are aware of it and have treated it. They recognise it and they now go to techniques that they know work for people. 

Imagine now that you have an illness where a GP might see a case once every 15 years. They are not going to be so familiar with what to look for or how to treat it. For a few years prior to my MDS diagnosis I was prodded and poked by many great and good medics who just scratched their heads at me. Then within this rare diagnosis I’m also an anomaly. That has never left me. It means that often, no one knows why I’m the way I am. Many times I have a test and it comes back not quite right. For example I’ve been having treatment for osteoporosis caused by being on steroids for so long. I’ve had stress fractures caused by the illness in my back and neck. Despite gold standard treatment over the last few years to treat the osteoporosis, the illness has progressively got worse. The doctor looked at the results and said “this is highly unusual” I just sighed. She then organised some extra blood tests. Surprise surprise these have shown something unusual. 

I’ve had to learn to live in that space where you can’t know everything that’s wrong with you. You just have to live with it and trust that the right thing will become obvious at some point. I also have faith in the consultants charged with my treatment. 

Show your colours is the theme of this years Rare Diseases Day. I’m blessed to live in a time and a country that despite the rarity have kept me alive and functioning for nearly 23 years.  My colours get a bit dimmed at times when I feel rough and don’t have an answer to why but I refuse to let the darkness take over me. Instead I find myself always looking for the light. I’ve learned the more light you let in the brighter your world becomes. #rarediseasesday