28th February is the internationally recognised Rare Disease Day, raising awareness and hoping to provoke change where it counts for all those affected by rare conditions.
What Is A Rare Disease?
A disease or condition is considered rare if it affects 1 in every 2,000 people in the general population. A rare disease isn’t necessarily one you’ve never heard of. Some well-known conditions are in fact considered to be rare diseases. The bulk of rare diseases, however, are likely ones most people have never heard of and know little or nothing about.
Some examples of the far lesser-known rare diseases include Levy-Yeboa Syndrome, Li-Fraumeni Syndrome, Weill Marchesani Syndrome, Dup15q Syndrome, Best Vitelliform Macular Dystrophy, and Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex.
More well-known conditions that you’re perhaps more likely to have heard of include dysautonomia, spina bifida, cholera, Chiari malformations, Cushing syndrome, cystic fibrosis, haemophilia, and muscular dystrophy.
There are over 7,000 documented rare diseases, and that list grows on a regular basis with more research, literature and diagnostic advancements to aid the cause.
What Is Rare Disease Day For?
Rare Disease Day is about raising awareness of rare conditions, sharing stories, increasing understanding, and making those with rare conditions feel less alone in their experiences. It’s also about trying to create deeper change on a social and medical level, such as by reducing stigma and the barriers individuals with conditions face, improving equal access to healthcare and therapies, enhancing research and development, adjusting legislation to support patients, and reducing the time taken for individuals to achieve a diagnosis where possible.
Related Reading : Rare Disease Day 2021 – 5 Reasons Why Awareness Is Important
Who Might Live With A Rare Disease?
Simply put, chronic conditions can affect anyone. While many rare diseases have a genetic basis, not all do and their generation could be due to a number of factors, from trauma and infection exposure, to lifestyle and simply unknown causes. As such, a rare disease could affect any of us, at any age, to any degree.
Much like with other chronic illnesses and disabilities, those with a rare disease can sometimes be greedy and have more than one condition. As if one isn’t hard enough to live with!
It’s not just the person with the condition(s) that is affected when considering a rare disease. Loved ones, friends or partners can all be included in this sphere because the knock-on effects are often wide-reaching.
What Is The Experience Of Living With A Rare Disease Like?
I can only speak from my experience and those I have some understanding of from interacting with others. What is very clear is that the experience of a rare disease – just like with any chronic condition or disability – is unique to each individual. Even if you get two people with the same condition, the symptoms and severity can vary, while the experience of it day-to-day can be drastically different for a number of reasons.
There are some similarities we can see among such individuals. For instance:
- Many have struggled to get a diagnosis. For a lot of people, that has meant years of back and forth appointments to medical professionals, sometimes getting fobbed off and sometimes just hitting a brick wall because they simply have no answers. Lack of empathy, not believing the patient, not thinking outside the box when considering symptoms, and a lack of knowledge can sometimes explain this problem of delayed diagnosis.
- Many individuals also experience a mental health toll with their condition, such as with anxiety and depression, poor sleep, feelings of hopelessness or loneliness.
- Many individuals struggle to get the treatment they need and are often on the back foot as a patient fighting for their health within a healthcare system that doesn’t support them as it should.
- Some rare diseases are visible, others are invisible conditions. Both come with their own potentially issues around stigma and judgement.
- Many individuals experience numerous ramifications to other aspects of their life, including their lifestyle as a whole, social life, work life, relationships and so on.
What Are The Treatments?
In this day and age, we like to think we’re fortunate if we’re in a country that can take advantage of science, technology and bio developments. And we are fortunate, because there are far more tools and far greater understanding these days of a breadth of conditions.
There are new treatments, procedures, management tools and pharmaceutical interventions being created on a constant basis. Each day, new findings are being made and patients have access to more options that could help them manage their condition, make life a little easier, or even help to extend their life.
Unfortunately, there are limits to our magical modern developments. Many rare disease do not have any type of treatment, let alone one that is safe, effective and without side-effects. Many such diseases have no cure and no end date. They are lifelong conditions that require management, and that is far from easy to accept when living with health problems of your own.
Change is a constant in this world, and I’d like to think there’s a lot of hope for brighter days in the future where rare diseases are concerned.
Share Your Colours – Rare, Beautiful, Powerful & Awesome
Whatever your condition, whatever its level and impact on your life, I see you. So do many others in society, and all those living with a rare disease themselves.
Frustratingly, there will always be ignorance, whether in the wider world, media, closer to home or within the healthcare system.
The thing is, you know how you feel. You know how you have had to fight for your health. You know what an impact it has on you. The ignorant do not. I would also bet the farm that they couldn’t last a minute in your shoes.
I have no authority on which to write my opinions here as I don’t live with the sort of debilitating conditions that some do, but that’s also another point to keep in mind. Our experiences can’t be compared; there will always be someone suffering more than we are, someone less fortunate or less whatever. That doesn’t mean that what we’re going through or how we feel isn’t valuable in its own right.
It’s hard to be proud for living with a rare condition. Yes, you get up each day and keep going and that is strength personified. But we don’t have much choice. We can only do our best and focus on the things we can change, on the perspective we can take and the way in which we approach our lives. But there are so many big and small steps that we should probably be congratulating ourselves for. From eating or having a wash, to getting up for another day when you didn’t think you could face it. There’s a plethora of accomplishments we achieve on a regular basis that we may not acknowledge. Add these up and you’ll see you’re doing a pretty awesome job even when you don’t think you are.
Nobody needs to fit in a box or be constrained by a diagnosis. It may be a part of you and your life, perhaps even a dominating factor, but it is not you. It is not the whole of you, nor is it who you are. You are still a person, a person with a history and a future, with preferences and likes and personality and skills and compassion and everything else that makes you undeniably you.
We might want to share our stories, or we may not. We might want to be an active part of pushing for change and awareness, or we may prefer to watch from the sidelines. It doesn’t matter. You’re a part of the community and that means you’ll never truly be alone. There will always be others who “get” it.
To embrace what you have, the situation you find yourself in and your body is not easy. Acceptance is perhaps harder still. But we can try, little by little. There should be no shame, embarrassment, reservation or guilt. These are our lives to live. Even if they don’t look like the lives of others, even if they don’t conform to the unwritten rules of society for what we “should” be achieving in our lives.
It’s time to be you. Whatever that means and however that looks. When you feel too tired to keep fighting, take a breather. Taking a break is not failure, it’s the opposite. It’s what will give you the strength to keep on going for another day, so cut yourself some slack. When you’re fighting for your health, you know your body better than anyone so have faith in yourself, no matter how much the healthcare system or society may try to erode it.