Let’s Talk About Rare Disease Day

Rare Disease Day

Today is Rare Disease Day and Tamsin has kindly let me, Shona from Shona Louise, take over her blog to tell you a little bit about the day and its importance. I have a rare condition called Marfan Syndrome and February is the awareness month for my condition, so I’ve been educating and informing people all month long. But Rare Disease Day brings around a different opportunity for me. I don’t think people know what life is like living with a rare disease, so this day that falls on the last day of February each year really is so important.

ABOUT RARE DISEASE DAY

The day was established in 2008. It was created to improve access to treatment and medical representation for individuals with rare diseases and their families. The European Organisation for Rare Diseases recognized that treatment for rare diseases is often insufficient, as well as there not being enough emotional support for sufferers and families. The day then went global and now it is celebrated and recognized all over the world, bringing together sufferers in the process which is so important as it can often be a lonely experience having a rare condition.

MY EXPERIENCE AS SOMEONE WITH A RARE ILLNESS

Whilst my condition is rare, we aren’t talking one in a million. But it can still be a quite a lonely experience. Other than other families with Marfan, I had never met another person with it until I bumped into people in my cardiology clinics. There are some amazing support groups online that are often a lifeline for people and without them, I wouldn’t have met my partner who also has the condition. It really is so important to be able to connect with people going through similar things to you.

Each year the day has a theme, and this year it is research and how incredible and vital it is to improving the lives of those with rare diseases. I’ve recently had a lot of interaction with the world of researching starting with when I got involved with The BHF to help promote some new Marfan Syndrome research. I can’t tell you how happy I was to find out that a breakthrough has been made in the cardiac side of my condition. The side that unfortunately kills too many people way before their time, including some of my family. Through that I got the chance to talk a little about Marfan Syndrome at a senior managers conference about research at The BHF head offices and it was an incredible experience.

After that, I just wanted to get involved in as much as possible, and so put myself forward to be on the new BHF patient advisory group. I was successful in my application and I recently had my training. We will be going through the clinical studies funding requests that The British Heart Foundation get and assessing the standard of plain English, the patient and public participation and whether the study benefits the public. It is an honour to be involved in something like this and it really has brought home to me how important research is.

Unfortunately, most days aren’t full of exciting opportunities though since my rare condition has caused me to be in severe chronic pain all the time. I’ve needed many surgeries in the past to correct spinal ad hip deformities. I have to use a powerchair to get around but often struggle to sit up for half an hour sometimes because of the pain. I am also facing major open heart surgery in the future, too. Marfan has caused my aorta (main artery t the heart) to widen to a dangerous point, so it is predicted that I’ll need surgery to replace part of my aorta in my early twenties. It’s a daunting and scary prospect but I have almost gotten used to things like this. It has simply become part of my life.

Luckily though I have an amazing community of people online who give me so much support and love, which makes the bad days a little easier to push through. For me that is one of the most important parts – have a good support network whether that be online or offline. You may have a rare condition but you are never alone.

 

About The Author:

Shona Louse Is A UK Blogger With Marfan SyndromeShona is a UK based blogger who writes about lifestyle, beauty and disability. She is a HMSA Charity ambassador and part of the patient advisory group for The British Heart Foundation. You can follow her on Twitter, Instagram and read her blog here.

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10 Comments

  1. 28th February 2017 / 7:12 pm

    It is so important to raise awareness of rare diseases in this way, and great that there is such support online.

  2. 28th February 2017 / 7:38 pm

    I didn’t know there was such a day – it is great that there is. It is good to be able to find support too. Kaz 🙂

    • 28th February 2017 / 11:28 pm

      It’s really so important that it exists, and helps to provide support. It can be so lonely living with chronic conditons.

  3. 28th February 2017 / 7:39 pm

    Sorry to hear about your chronic illness, it must be so difficult. So glad that you are raising awareness and that you have a support network to help you xx

    • 28th February 2017 / 11:30 pm

      Thanks lovely. This was a guest post by the lovely Shona from Shona Louise. I have other posts on here that talk about all of my conditions, including my very rare condition called Pancreatic Agenesis x

  4. Zoe IKIWN
    28th February 2017 / 8:41 pm

    This is the first year that I have been made aware of Rare Disease Day and I’m so pleased that it’s profile is rising as it gives such an important opportunity to all of us to learn about each other. An online community can be just as supportive, in my experience sometimes moreso, than an offline one! x

  5. 28th February 2017 / 9:03 pm

    Rare disease day should be more spoken about as so many people suffer with rare diseases, thank you for sharing this.

  6. 28th February 2017 / 9:13 pm

    Thanks for sharing this. I’m glad you were able to find a great support network x

  7. 1st March 2017 / 12:48 pm

    I didn’t know this existed! At least you have your partner who understands

  8. 5th March 2017 / 2:33 pm

    What a great cause to raise awareness for. I hadn’t heard about this day either. Thank you for sharing your story.