Each year, Rare Disease Day celebrates those with rare conditions across the world. On February 29th, the three hundred million people living with rare conditions, as well as their families, loved ones and carers that support them, will be acknowledged. The Rare Disease Day organisation hosts hundreds of events around the globe to raise awareness and provide a community for those affected. Edinburgh is hosting a ‘Show Your Colours’ event, where people are encouraged to dress in vibrant colours and show off their rare conditions.
For those living with rare diseases, the recognition that comes with days and events like this cannot be understated. At sixteen I was diagnosed with a chronic bleeding disorder, Immune Thrombocytopenic Purpura (ITP) – an autoimmune disease affecting the platelets in the blood. The platelets, which clot your blood, are attacked by the body’s white blood cells, meaning that you bleed freely. It is a condition that affects only 1 in 20,000 adults, categorising it as decidedly rare, and one that has no cure.
Though symptoms of ITP are usually quite prevalent – the purpura rash (little red dots on the skin), persistent bruising, nose bleeds – the emotional effects of being diagnosed with a rare and chronic blood condition often go unspoken. What follows is often a major disconnect from the body, and with this comes a disconnect from yourself, and those around you.
I have no doubt that my ITP diagnosis completely shifted the trajectory of my life, influencing the way that I saw the world and how I imagined my future. It meant giving up a lot of things in my life; competitive swimming, socialising in some ways and my carefree teenage years. Though the process of diagnosis was not an easy one as it takes over a year to be diagnosed with chronic ITP – meaning I will likely have it for the rest of my life – it was only the beginning of my journey with this rare disease.
Growing up is already a challenge in itself, learning to navigate life and all of its uncertainties. Adding an unexpected illness into the mix is a recipe for isolation – something that is already all too common for teenagers. Rare Disease Day, especially for young people, is a way to feel less alone. To know that millions of other people around the world, though maybe not experiencing the exact same condition as you, also deal with the same host of emotional and physical difficulties as you.
The social isolation and loneliness that stems from having a rare disease is one of the biggest downfalls. It can feel impossible to explain the effects of your condition to other young people, which means you might have to do things at your own pace. It is one of the most essential reasons for celebrating Rare Disease Day, for as much as people can be sympathetic and understanding, they won’t experience the same day to day life as you. A real sense of community can be found for those who do understand the challenges of living with rare conditions, because they do so themselves.
Though there are many days where the ‘positives’ of having a rare condition are hard to find, there are undeniable ways that ITP has changed my life for the better.
First, and most importantly, it has made me appreciate my friends and family. Rare Disease Day celebrates the families and carers of those with these conditions because they too deserve to be recognised. Having a rare condition can be a lonely road, but one that, thankfully, few people must walk alone. Whether it be with the help of doctors, family, friends or other people in similar situations, I have discovered that there is a host of people that will offer support in whatever way they can. It is incredibly meaningful to be able to connect with people in new ways after diagnosis and the relationships that you develop are usually stronger as a result.
Unfortunately, though it is not uncommon to be forced to give up certain things when diagnosed with rare conditions, such as sports, it does mean that there is a new space to fill with other things that you love in life. Though reading a book certainly isn’t the same as swimming in a National race, you learn to take what you can get. For so many with rare diseases, books and films provide a sense of escapism. No matter how much your body has let you down, you will always be able to travel into different worlds in this way.
Ultimately, I will never pretend that being diagnosed and living with a chronic rare disease is ‘for the best’. It is a never ending battle with your body (and oftentimes mind), but it is one that does have silver linings. And it is these silver linings that we celebrate on days like Rare Disease Day.
“Human blood with red blood cells, T cells (orange) and platelets (green)” by ZEISS Microscopy is licensed under CC BY-NC-ND 2.0