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Guest post: A day to shine a light on rare diseases
February 28th is Rare Disease Day. This guest post is written by disability, lifestyle and beauty blogger Shona Louise Cobb, who has Marfan syndrome.
It is thought that there may be over 6,000 different rare
diseases and conditions that affect people in the world and I have one of those
Each rare condition in itself is truly rare but such conditions collectively are not since it is estimated that 1 in 17 people have one, so I’m not alone in suffering with an uncommon condition - a comforting thought. Often when we hear about such a condition in the media, on the TV and online it is the ones that are about 1 in a million but in reality many of us have rare conditions that can affect 1 in 5,000. This is me.
Marfan syndrome and me
I have a genetic condition called Marfan syndrome that affects my body’s connective tissues (they are a bit like the glue in the body that holds all the structures together). I’m writing this post today about my condition and others because today is Rare Disease Day, as well as it being Marfan Awareness Month during February. It’s an opportunity for people with unheard of and uncommon conditions to step forward and raise awareness, showing that actually it isn’t rare to have a rare disease.
Living with a rare condition can still be quite isolating and lonely though – for years I never met anyone outside of my family who had Marfan syndrome. It can also be frustrating when you see a doctor, as often they haven’t heard of your condition or know enough about it to properly treat you, you have to be an advocate for your own health a lot to get the care you need. Things can also be difficult emotionally, and it is thought that approximately 80% of rare diseases have genetic origins so sometimes there might be multiple family members affected which can often be difficult to deal with. My mum also has Marfan and suffers with worsening joint pains, and sadly both my grandad and my uncle died at young ages from heart complications associated with Marfan syndrome.
Everyone’s experiences are different though and even within the same condition no two people are the same. My biggest problem is chronic pain, and over the years I’ve had a lot of spinal and hip problems requiring multiple spinal surgeries and a hip replacement at the age of 18. This along with a cyst in my sacrum causes me to be in severe chronic pain all the time, worsening when I stand and sit, so I use a powerchair to get around. My condition is multi-systemic though and also affects my heart, I currently have problems with my aorta, the main artery in the heart, that my surgeon predicts will need major open heart surgery to fix in my early twenties (I’m currently 19 years old). It’s a scary prospect but for me it’s all part of having a rare condition, and growing up knowing a lot about Marfan has prepared me for these kinds of situations.
Supporting people with rare diseasesCharities, organisations and awareness days like this one all help to support those with rare diseases though. I volunteer with The Hypermobility Syndromes Association (HMSA), who support several rare conditions including mine. I’m their Marfan Ambassador, meaning that I get to reach out and help support and advise people in my position, which I love doing. Families often rely on such charities to connect them to other sufferers – an invaluable experience. Meeting someone with the same rare condition creates the most uplifting feelings, and you realise that you aren’t alone in the fight. I also have my own blog and Facebook page where I raise awareness and discuss my rare condition and disability, and it’s a great outlet for me – a space where I can be truthful and raise awareness in my own way.
Rare Disease Day and Marfan Awareness Month really help to focus and drive me forward in this too and every year I look forward to February – it truly is incredible seeing so many people come together to make a difference.
Do you or someone you know have a rare disease? Share your experiences if you wish and help raise awareness in the comments below.
Marfan Syndrome Advocate