Guest post: A day to shine a light on rare diseases — Scope | Disability forum
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Guest post: A day to shine a light on rare diseases

shonalouise Member Posts: 15 Courageous

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

Picture of Shona

 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. Shona in hospital bed with teddy bearThis 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.

UK Disability and Lifestyle Blogger
Marfan Syndrome Advocate


  • iza
    iza Member, Community Co-Production Group Posts: 581 Pioneering
    Hi @shonalouise
    I am glad you created the post. I just pop into online community to see what is new here and found so interesting post. Thank you also for sharing the information about your medical condition and brining to attention  that today is a rare medical concision special day. 
    I do suffer one too which is called Trigeminal Neurophatic Facial Pain (I do have bilateral one). 
    I wish I could meet  someone here in London  who suffer from it too , so I could compare the life experiences.  
    I am glad for you that you empower yourself to become an Ambassador as well. 
    Well done to you. 

  • shonalouise
    shonalouise Member Posts: 15 Courageous
    Hi @iza I'm so glad you enjoyed reading the post and learning more about today and my condition. Have you tried looking for any support groups online and on Facebook?
    Thank you.
    UK Disability and Lifestyle Blogger
    Marfan Syndrome Advocate
  • Sam_Alumni
    Sam_Alumni Scope alumni Posts: 7,673 Disability Gamechanger
    edited March 2017
    Great post! Thanks @shonalouise :)

    Senior online community officer
  • Chris_Alumni
    Chris_Alumni Scope alumni Posts: 689 Pioneering
    Thanks again for an excellent post @shonalouise. Today we've just launched a discussion group on rare and undiagnosed conditions which may be of interest. 

  • GeoffBosworth195661
    GeoffBosworth195661 Member Posts: 161 Pioneering
    Each of us are individuals and rare and undiagnosed conditions that have baffled the researchers. Most cases while awaiting for answers there are many ways to help you along is having to share the condition with others that no matter how small the information it may be a mountain of relief to others. Although we are individuals it does not mean we are not alone as we are all as one in unity.    
  • crazycatlady
    crazycatlady Member Posts: 2 Listener
    Hi shona louise, I suffer from Ehlers Danlos Syndrome type 3 hypermobility with aspects of classic and vascular. It really is a nightmare getting any medical help! I've been accused of being a drug seeker, hyperchondriac
    Just about everything under the sun. Finally diagnosed in 2013 at the age of 42!
    I'm up at King's tomorrow for more tests, this time for POTS.  I have had surgery on my heart, a year ago. An ablation to try and sort my atrial flutter, partially successful. Nice to meet a fellow zebra! Good luck x
  • iza
    iza Member, Community Co-Production Group Posts: 581 Pioneering
    Hi @shonalouise

    Yes I am a member of FB' page and I fill sorry for people in my group as they are packing themselves with lots of medication which hardy bring any improvements for atypical TN. I choose natural method of adaptation my life to my medical condition which meant I needed to resign from  few/ many things I loved to do in my life. 

    I never expected that my life can change only because of one wisdom tooth extraction (the roots of tooth were attached to trigeminal nerve in jaw). 

    If somebody would predict my life earlier I would not be able to believe what I will have to go true and how painful the condition will be to me. 

    Anyway I still try to survive. 



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