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
conditions.
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 diseases
Charities, 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.
