Rare Disease Day 2021
Rare Disease Day falls on the last day of February, so this year it’s the 28th February 2021. It’s a day to shine a light on the medical conditions that aren’t as common but are no less important, meaningful and potentially disruptive to those that live with them.
Raising awareness is important for the general public, policy makers, industry representatives, researchers, scientists, healthcare providers and patients alike. Every blog post, tweet, Facebook post and conversation counts, each taking the world a step closer to reducing stigma, sparking innovation and encouraging compassion.
My Experience With Rare Disease
Many of my conditions are not considered to be rare, like chronic migraines, fibromyalgia, nerve damage, a stoma, chronic fatigue, osteopenia, bronchiectasis, anxiety, and so on. What happened to me leading up to my first surgery in 2015 was rare, particularly with my large bowel ‘dying’ with no known cause.
This initial operation resulted in a plethora of new symptoms and conditions I’d never had before, and one of those was a diagnosis of Autoimmune Mixed Connective Tissue disease, also known as Undifferentiated Connective Tissue Disease, which is considered to be a rare condition. I hadn’t even heard of it until that point.
From the age of 19, I struggled going back and forth to doctors and specialists, being disbelieved and fobbed off. I got so many infuriating, insulting and ignorant responses that I lost count. Everything from ‘you’re too young to have anything wrong with you’ to useless advice like drinking more water. The problem with rare conditions, which can even happen with the most common, is that the doctor isn’t looking for them and in many instances there isn’t a quick, simple test to provide a clear-cut diagnosis.
Not only is diagnosis difficult, but so too is living with such conditions, obtaining adequate medical support or finding ways in which to treat the symptoms. I knew nobody with any of the problems I had until I went online. I struggled finding any specialists who understood or had any ideas as to what was going on. I’ve only been able to find one specialist going forward to help with the next major surgery. Treatment options and management for pain or any other problems aren’t very effective.
It has taken a considerable toll on my mental health, it’s cost me my job, I’ve no real offline friends nearby, my goals have had to totally change, and I spend the days propped up in bed because I can’t sit in regular chairs anymore. I’m grieving the life I had. I’m grieving all the things I’ve lost and the future that’s been taken away. I’m very fortunate to have supportive parents, but not having someone to talk to who ‘gets it’ or feeling supported emotionally is difficult, as is not having any practical or financial support. A chronic illness, rare or not, is an ongoing deal that you don’t simply ‘get over’. There is no ‘get better soon’.
I’ve personally found it to be a fight each and every step of the way, in a journey that can be as disheartening as it is frustrating.
I can only imagine what it’s like having other rare diseases. I’ve come to know lots of people with conditions I’d never heard of before, conditions I can’t pronounce and knew nothing about. Each time I learn of something I’ve not come across before I do a bit of research and try to educate myself. It’s been a learning curve for me these last few years and I’m grateful to be opening my eyes and getting a feel for what others are going through.
♥ ♥ ♥
Here are just 5 of the many reasons why raising awareness for Rare Disease Day is important:
1. Rare But Every Bit As Important
There are over 6,000 rare diseases identified, and it’s estimated that around 300 million people live with a rare disease. These are quite considerable numbers of conditions and people living with them, more than some might anticipate when thinking about ‘rare’ diseases. Many such people may live with co-existing conditions, complicating the picture and adding more difficulties to their lives.
Each and every one of these people are tied to the world and to other people. A disease can affect any and all aspects of one’s life, from employment and leisure activities, to relationships and mental health. The disease can can have a domino effect that touches those around you in some way, like your colleagues, parents, friends, family, partners, carers. A rare disease does not operate in a vacuum, and the ripple-effect can spread considerably.
Any individual might be born with a rare disease or develop a rare disease at any give point in their life. Such conditions do not discriminate and they have the potential to affect any of us. Being rare does not make any condition less meaningful or less deserving of attention.
2. There’s Typically No Cure
Most chronic, rare diseases are a long-term affair. Without any cure, it becomes a case of needing to manage the symptoms or delay their progression. Patients need more support to do this on an ongoing basis because it can take a dramatic toll emotionally, physically and financially.
Rare diseases are less likely to get as much funding for diagnostics research and treatment development. Healthcare providers and the UK’s NHS are less likely to have as many resources to deal with rare conditions. Researchers need to continually innovate, professionals need new findings to direct their treatment, and patients need more management options.
3. Diagnosis Can Be Lengthy, Difficult & Disheartening
Given the overlap of symptoms between conditions, lack of efficacious diagnostics, and doctors simply not considering particular diseases when dealing with their patients, it’s perhaps no surprise that diagnosis can present a considerable challenge. Add to that the fact that many conditions are ‘invisible’ and it gets harder still, with patients struggling to be heard or even believed by their physicians.
Not only do doctors need to be more willing to think outside the box, but patients also need to be able to confidently advocate for themselves, which is easier said than done. When you hit a brick wall with one doctor, it can be a devastating headache finding another and starting from scratch all over again. As time goes on, depression and hopelessness, with a dose of volcanic frustration, can kick in.
4. Rare Disease Can Be A Lonely Experience
Logic would suggest that you’re less likely to know someone in your life with rare disease compared to someone with a common condition, and those odds reduce further still when it comes to knowing someone with the very same rare condition you’re dealing with. It can be a lonely experience when others don’t ‘get’ what you’re going through or don’t understand why you feel the way you do.
Even those with the same condition will have a unique experience of it that cannot be compared to your own, but it can help to know you’re not quite as alone as you may feel. Realising there are others out there feeling a similar way or living with similar symptoms can be of some comfort.
The online realm has been fantastic in this respect, bringing the chronic illness community together and providing a platform from which to communicate, share and raise awareness. Facebook groups, advice websites, forums and blogs are connecting people all over the world so that they can find hope, support and even friendships in ways that may not have been possible otherwise.
5. To Combat Pervasive Stigma
Ingrained stigma, misconceptions, ignorance, scepticism and judgement make the life of someone with a rare disease all the more challenging. The same goes for any kind of chronic, invisible illness.
This stigma and lack of awareness isn’t just within society, but also within our professional lives, personal lives and among medical bodies. Facing these challenges within the healthcare setting makes diagnosis and treatment all the more difficult, especially if you feel you’re not being believed, listened to or supported by your doctor. Judgement and stigma can also affect our work lives, self-esteem and our relationships, with wide-reaching effects that might serve to isolate someone even further during what are likely to be some already excruciatingly difficult times.
If others, whether they’re our doctors, friends, strangers or potential employers, treat a person differently or discriminate on the basis of such a condition, it doesn’t just affect those relationships and future opportunities. It also affects how that person feels about themselves. Rare Disease Day and any chance to raise awareness can help in increasing understanding, challenging stigma and encouraging more compassion.
Do you or does someone you know live with a rare disease? Do you feel more awareness around such conditions is important?