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Rare Disease Day 2021: 5 Reasons Awareness Is Important

by InvisiblyMe
To the top is a light blue heart with whorl patterns of a fingerprint. Below is the post title: Rare Disease Day 2021 and 5 Reasons Why Awareness Is Important.

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.

A field of red flowers with a single yellow tulip being the odd one out in the middle up close to the camera to suggest something rare and special.

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.

A close-up of the arms and hands as two women each other's hands.

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.

A black scroll divider.

Do you or does someone you know live with a rare disease? Do you feel more awareness around such conditions is important?

Caz  ♥

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tidalscribe February 25, 2021 - 4:20 pm

My lifelong friend took 25 years to recover from the chronic fatigue of ME. At the beginning we hadn’t even heard of it. It took away her career and social life.

InvisiblyMe February 26, 2021 - 4:22 pm

I’m so sorry for your friend. ME/CFS really can be incredibly debilitating, and it sounds like it sadly cost her a lot. You say ‘recover’, did hers change and reduce after all those years? Our old neighbour’s daughter had ME for a number of years to but it sounds like at some point it all changed and now she lives a full life. It’s not like that for everyone, but it’s interesting. You’re right, years ago it wasn’t really heard of or known about, so at least there’s a lot more general awareness these days. xx

tidalscribe February 26, 2021 - 11:21 pm

I guess the changes were gradual, from having her mother care for her she became a carer for her mother for a long time.

johnrieber February 25, 2021 - 4:32 pm

Very powerful…thank you for sharing this with us…it’s a shame that so many have similar experiences when dealing with those in the medical field…

InvisiblyMe February 26, 2021 - 4:23 pm

You’re right, it really is a shame so many find the medical profession so incredibly difficult to deal with. Getting a doctor that listens, believes you and cares, let alone actually knows how to go about helping you, is like winning the lottery. x

Chen Song Ping @ TPTan March 9, 2021 - 4:33 am

Creating an awareness is important, and be heard!

Sandee February 25, 2021 - 4:38 pm

We just never know what will happen to us medically speaking. I commend you for being so helpful to others. Your journey being shared lets others know they aren’t alone. Bless you for that.

Have a fabulous day, Caz. ♥

InvisiblyMe February 26, 2021 - 4:25 pm

Thank you very much, Sandee. I know reading about the experience of others helped me tremendously when I was first having problems. I don’t know where I’d be without the online world and the amazing people in it. I hope you & hubby enjoy your boating this weekend! Stay safe xx

ashleyleia February 25, 2021 - 4:49 pm

It’s so great that you’re speaking up about this, so other people living with rare disease can realize they’re not alone. Being able to connect online is a powerful thing when connecting in person just isn’t happening. It must have been so much harder to deal with rare or even relatively uncommon conditions back in the pre-internet days.

InvisiblyMe February 26, 2021 - 4:57 pm

Thanks, Ashley, I really appreciate your comment. I do think it helps to let others know they’re not as alone as they may feel. It was so meaningful to me when I started developing all these problems I didn’t know about to find others sharing their experiences online. When I was a kid, there was nothing and things didn’t get spoken about (in terms of mental health). I imagine it being the same with many physical health conditions, though thankfully I was a healthy child and teen for the most part. The Internet is a game-changer for sure. xx

Rachel Duerden February 25, 2021 - 6:54 pm

Thank you for raising the awareness of rare chronic illnesses. I feel so sorry for the sufferers because not only do they live with debilitating conditions that there is no cure for but worse, getting fobbed off and patronised by so-called experts.

InvisiblyMe February 26, 2021 - 5:09 pm

You’re right, the fobbing off and patronising is a kick when those people are already down. Thank you so much for reading & comment, Rachel ???? x

Janet B. Pearson February 25, 2021 - 10:53 pm

Thank you for opening yourself up to us. I have Multiple Sclerosis, which is not necessarly rare but often misunderstood. I applaude you sharing your experiences 🙂 God Bless you!

InvisiblyMe February 26, 2021 - 5:13 pm

Thank you very much, Janet, I really appreciate that. I tried to say in my post that so many of these points apply to most other chronic conditions, like your MS. The difficulties with diagnosis, the issues with lack of understanding and knowledge, challenges with stigma and treatment etc. It all applies. Here’s to hoping that bit by bit, more sharing and more awareness will benefit so many chronic illness sufferers. ???? xx

Christy B February 26, 2021 - 12:23 am

So true that even though it is a rare condition it is every bit as important as any other! I’m so glad to hear about this day at the end of February. Wishing you a lovely weekend ahead, Caz xx

InvisiblyMe February 26, 2021 - 5:41 pm

Thanks very muchly, Christy. I’m glad this day exists and I’m grateful to have learned so much about other rare conditions over the past few years too. I hope you have a relaxing weekend ahead too, take good care of yourself lovely ????

Nick February 26, 2021 - 9:33 am

My niece has a rare disease called LCH. It has some similarities with cancer, though not as life-threatening. It is a long-term, chronic illness, though, and has made her life a lot harder due to symptoms such as chronic diabetes. She is looked after by an oncologist because there isn’t anyone else, but as so few people have it pretty much every aspect of her care and treatment is experimental. I feel very sorry for her – she is only just over 30.

InvisiblyMe February 26, 2021 - 5:47 pm

I’m so sorry for what your niece has to live with, Nick. LCH is a new one to me so I’ve looked it up. Langerhans cell histiocytosis, and it sounds like there are numerous potential symptoms. It must be very difficult and frustrating having so few options and so little in the way of reliable treatments to help manage it because, as you say, a lot of the care is experimental when the condition is so rare. I hope her oncologist is on the ball and compassionate so that she’s in the very best of hands. ????

Nick February 26, 2021 - 10:35 pm

Thanks, Caz. Yes, that’s its full, jaw-breaking title! The severe diabetes is the worst symptom (in her case) and she has also been told she may be unable to have children. The disease may also be life limiting, although nobody seems to know for sure. But she is being well looked after at one of the big London teaching hospitals, so we are all grateful for that, obviously.

Jo February 26, 2021 - 9:37 am

Excellent post Caz. Chronic illnesses are so much more than the actual illness itself. Thank you for all you do to raise awareness.

InvisiblyMe February 26, 2021 - 10:15 pm

That’s so spot on – chronic illnesses really are so much more than just the illness itself. I appreciate you taking the time to read & comment, Jo ???? xx

Terri, Reclaiming Hope February 26, 2021 - 3:45 pm

This is such a brilliant post Caz! It’s so important to raise awareness of these rare diseases, as awareness may equal more research and better treatment. Thank you sharing your story with us. As more people feel comfortable talking about how rare and chronic illnesses affect their lives, hopefully it will help doctors understand more about the impacts and be able to provide more holistic care. Sending hugs your way sweet friend!

InvisiblyMe February 26, 2021 - 10:17 pm

Absolutely, Terri. The more awareness the better, for many reasons. There are sadly so many conditions that are rare and as such get far less in the way of research or treatment development. Those suffering with them are just as in need of that support as someone with a more ‘common’ condition. And I do hope that being able to have such conversations can impact healthcare generally; there are certainly plenty of doctors that could do with listening to their patients more! Thanks for the great comment lovely ???? xx

mentalhealth360.uk February 26, 2021 - 7:21 pm

What a brilliant post Caz and thank you. I too believe it’s important that people become more aware of the rare and chronic illnesses that so many people have to live with, day in, day out. You just never know when you might develop one (or many), like you or I did. From the other Caz 🙂 x

InvisiblyMe February 26, 2021 - 10:19 pm

Exactly, they really can affect anyone, nobody is immune. Even if you don’t live with something, it’s good to be more educated, open to learning and listening. I’ve learned so much and there are still plenty, plenty, of things I’m ignorant about so I want to keep learning. It’s amazing to hear people sharing their stories, I think it makes a big difference. Thanks, fellow Caz ???? xx

Despite Pain February 27, 2021 - 8:55 am

I’m so glad you’ve written about the issues around having a rare disease. (Obviously, I’m not glad that you have one yourself!) There are so many rare diseases, aren’t there? And with no publicity, nothing really changes. Our online communities and chronic illness blogs, I’m sure, must make a difference.

Susan B February 27, 2021 - 1:26 pm

I will be thinking about everyone tomorrow who, like you and me, suffers from a rare disease.

It took me 45 years to get a diagnosis – no thanks to the NHS – because, after thousands of hours of research, a trip abroad and spending hundreds of pounds on medical papers, I eventually diagnosed myself. Luckily, my GP at the time agreed to refer me to the one specialist in the UK who could confirm my diagnosis. However, I had to write a begging letter first to the local health authority explaining why I needed the referral and the funding. Even now, despite having a written diagnosis on my records, some GPs still dismiss me with a scoff because they have never heard of my condition.

There is, of course, no cure, no research, no understanding and very little acceptance. Life is very different for those of us who suffer from rare diseases, particularly those which are invisible. That doesn’t mean that it is impossible to find a sort of happiness in life – I certainly have – but it does mean that understanding from others goes a long way to finding it.

James Viscosi February 27, 2021 - 4:52 pm

It’s a shame that so many patients have to spend so much time and energy convincing health care workers there’s really something wrong. And I think it’s no coincidence that many of the people who experience this are women. 🙁

Raw Writings February 28, 2021 - 1:43 am

Thank you, Caz. I have a rare disease which is an Inborn Error of Metabolism and causes periodic Rhabdomyolysis (muscle breakdown). The crises also affect my kidneys and Electrolyte Balance. So, this article really hits home. I can relate to all of it.

Cheryl, Gulf Coast Poet March 1, 2021 - 3:44 am

This post is relatable. Robert and I both have some chronic illnesses. He is chemically sensitive and gets migraine headaches from exposure to fragrances, cleaning products, traffic fumes, dryer vent fumes, some cooking odors, fresh-cur grass, insecticides…We both have allergies to mold, tree pollen, cats…The list goes on. We both have fibromyalgia and he has post polio…and that list goes on too. 🙂 It’s nice to know there’s a day for rare diseases. Many people, including doctors, often don’t understand. Interesting post Caz. You have a lot to deal with! Take care of yourself. <3

Chen Song Ping @ TPTan March 9, 2021 - 4:38 am

Creating more awareness is important, even to the healthcare workers. Be heard, be understood, be strong!

SpookyMrsGreen March 9, 2021 - 4:07 pm

I am having a “sorry for myself day” today due to the chronic condition. My glasses are smudged with residue from all the eyedrops and products I use, my eyes are watering and making the skin sore in the corners, and I just feel fed up because I’m waiting for another routine hospital appointment to see another doctor who doesn’t know my condition and will fob me off.

Thanks for highlighting the challenges, Caz. Mine is a congenital condition, Lymphodoema Distichiasis, and I still haven’t found a single person with the same condition except my brother. I carry a recessive gene called FOX C2 but that’s as far as I got medically, and I only learned that because I wanted to see if I would pass on my condition to children when I had babies. Fortunately they haven’t shown symptoms, and my condition was apparent from birth.

I grew up being told I should be thankful that my condition won’t kill me and I can still lead a normal life. Recent online research suggests it may be linked with heart defects as I grow older, but nothing will be done unless I present with serious symptoms, by which point I suspect it will be too late to counteract. I am helpless to do anything except try and look after my own health as best I can…


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