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

World cancer Day 2023

 

As it’s World Cancer Day I thought I should do a short blog. In this blog I shall take you through my appointment with a new consultant which created much hilarity for me and my family when I regaled them with my tale. 

This week I had my first appointment in the Osteoporosis Clinic. I met a really lovely consultant who was genuinely interested in looking at the whole of me not just her little specialism. She explained that each of my Dexa bone density scans have got progressively worse despite being 2/3 of the way through treatment. She said this was somewhat unusual. The plan is to have the last treatment to complete the course and give it time to work. Then repeat the scan and depending on the results move to the next level medicines. In the meantime she wanted me to have a blood test and also to do a urine sample. 

After saying goodbye to the doctor I trotted off to the loo. Now for those of you who have never given a sample before, the pot you get to pee in is a small tube. Women are not able to as easily aim as men. I managed to pee all over my hand. Sigh! As I was trying, rather awkwardly because of my wet hand, to sort myself out, I managed to knock the sample and spill wee all down my leg. I managed to only save a dribble in the tube. Bigger sigh! The nurse told me there wasn’t enough and I should come back another day. It takes me an hour each way to get to Kings so that’s not my first choice. I had to get a blood test anyway. Next I head off downstairs and pick up a bottle of water so that I can pee again. 

The blood test was completed very quickly. I waited a little while and then I headed to the loo again. Now though, I’m in the public loos and not the ones upstairs in outpatients. It means I have to keep my coat and rucksack on as I don’t want them on the floor. 

One of the problems caused by all the treatment I’ve had is that I suffer from urge incontinence. When you’ve gotta go you’ve gotta go and the closer to the loo you get the stronger the urge is. Now I have to quickly get my trousers down, next my long johns and then undergarments. Then I need to raise my thermal top, tee shirt, hoodie and coat and finally need to position this tiny bloody tube and try and look to make sure the wee is going in the tube all the while fighting off the urge to panic that you will start weeing before getting clothes out the way. As you tilt your head to look if all is ok, the final insult is that your varifocals move off your nose and you are now as blind as a bat. Bigger sigh! 

Despite being a great multitasker I struggled with getting this sample. I managed to only get a couple of mls in the tube but I had a very warm and well washed hand! Lol

I could really see the funny side and had my partner in stitches as I was explaining my predicament. Having a sense of humour and being able to laugh at yourself is invaluable and a great way of keeping one’s sanity. 

Having serious osteoporosis at my age is a bit of a blow but is not unexpected. I’ve taking steroids since 2014. Steroids ravish your body in so many ways. Alongside the osteoporosis I also have a cataract and adrenal insufficiency all curtesy of prednisalone. 

This World Cancer Day I want to raise awareness of the late effects of cancer and its treatments. Many of us maybe clear of cancer but have a whole host of issues due to all the toxic medicines we’ve taken. We may look healthy on the outside but that’s just a facade protecting a very fragile body. 

Today I stand in solidarity with all cancer patients and their families but I also share a smile and a giggle at the amusing moments this journey brings me.