Tuesday, 12 March 2019

My experience of swallowing problems and EDS - Having an Oesophageal Manometry

Since the beginning of the year, you may (or may not!) have noticed that I’m trying to find my feet with blogging again. I went a long time with doing the same old posts and although I was enjoying it, it had become a bit repetitive and so I was starting to lose enthusiasm. So my posts began to dwindle and I put more energy into my YouTube channel (which I also love). But after setting a goal at the beginning of the year to get back to being more organised with blogging and YouTube, I’ve been trying to work out what I actually want from my blog. I’m not sure that I particularly fit into a certain niche – the only one I can really identify with is ‘lifestyle’ because it allows me scope to pretty much post about whatever I want! 

So as well as enjoying posting about beauty, fashion, afternoon teas, books, stationery and all that jazz, I also want to start posting more about health, disability, accessibility and chronic illness. It’s a big part of my life, and I know I will often look to bloggers for advice or reassurance on medical procedures, equipment and just managing life with a health condition, so over time, I would like to be able to offer the same to others. I’ve been through so many different types of appointments, tests, admissions, pieces of equipment and experience, so I feel I have a lot of insight to share. Whether that’s things I’ve been through in the past, or things that have happened more recently. But I thought I would start by talking about my experiences of having an Oesophageal Manometry test. 

I can’t remember if I’ve actually mentioned this on my blog before, but since around this time last year, I have been having problems with my swallowing. It started with a feeling of having something stuck in my throat, which has continued ever since. But now I’m also finding it difficult to swallow solids and liquids – it’s almost like they get stuck with my first swallow, so I need to either keep swallowing or cough to try and clear them from my throat. I get a lot of other digestive symptoms as well (burping a lot, nausea, really painful hiccups, pain, weight loss and reflux) although these could be related to my already diagnosed Gastroparesis and Intestinal Dysmotility. It makes meal times even more difficult than they already were and if we ever have to eat out, I can feel quite self-conscious because I’m aware I’m coughing/choking a lot. My family are used to it by now so it doesn’t faze them, but obviously in a public place it can draw attention. Plus the fact that eating is now an even more uncomfortable experience, which, as someone in recovery from an eating disorder, can be a difficult battle to fight.

Anyway, when these symptoms first came about, I went to see my GP. It just so happened that I had an upcoming appointment with my local Gastroenterologist, so my GP advised me to discuss it with her and see what she suggested. Unfortunately, that initial appointment didn’t go as I’d hoped it would. I explained the swallowing problems, the fact I had started losing weight and how much it was impacting on my life, only to be told it was ‘probably just my Gastroparesis’ and to just get on with it. She also said that I was still a healthy weight, so the weight loss didn’t matter. I remember coming out of that consulting room in tears and sitting in the car with my Dad as he tried to comfort me as best he could. It might sound extreme, but I was devastated. For the next few months, I was back and forward to my GP as she tried to contact my Gastroenterologist and get some proper help, but we were just getting nowhere. Eventually, we were able to get her to admit that this wasn’t her area of expertise and that I should go back to see my Professor up in London. To say a weight had been lifted off my shoulders is an understatement! I have always said that I do not expect doctors to know how to deal with everything, especially when it’s someone like me with very complex and often rare conditions. All I ask is that they can admit this, and pass me on to someone who can deal with it.

My referral back to the Professor came through quite quickly, which was a huge relief. I already had quite a lot of history with him – he had made my initial diagnosis of Ehlers-Danlos Syndrome, as well as doing tests to confirm my Gastroparesis and Intestinal Dysmotility, after years of being told I ‘just’ had IBS. So I have a lot of respect for the way he works and the fact he always seems to listen to his patients. When I went up for my appointment at the end of 2018, I felt nervous, as I do about any medical appointment. I was seen by a member of his team – a lovely lady who made me feel completely at ease. I went through my symptoms and the history of them, and she asked various questions to make sure she had a full picture of what was going on. We also talked about what my local Gastroenterologist had done for me so far, and she seemed genuinely shocked when I told her. It was nice to feel like I hadn’t overreacted about the situation to be honest! Once we’d been through everything, she reassured me that she wanted to get to the bottom of this, and even if it was ‘just’ my Gastroparesis, there were still things we could try to help.

The first thing she wanted me to have done was an Oesophageal Manometry test. I had already had one of these quite a few years ago, during a period of being extremely sick, so she said we could compare the results and see if there had been any changes. If this didn’t give us any answers, she would organise for me to have some further tests to look at other parts of the oesophagus. I came out of that appointment in tears again, but this time they were tears of relief that someone had taken me seriously. 

After a few false starts with my appointment day being changed and then me having to change it because the new date wasn’t suitable, last Friday my Dad and I caught the train up to London. Public transport with a disability is always a story in itself, so maybe I’ll touch on my wider experiences more in a different blog post! But as my appointment was at 10.15am, we needed to make an early start, which meant having to get a commuter train. To be honest, getting the train up to London was a dream this time! I had booked assistance online and although I have no idea whether the message actually got through (a rant for another day!) the guard was very helpful with getting the ramp out and getting me on the train. I read my book for a bit and then nodded off until we arrived in Waterloo. This was where the ‘fun’ began. Because the nearest tube station to The Royal London Hospital (Whitechapel) doesn’t have any disabled access, we have to go by bus instead. In general, I don’t mind travelling by bus – it’s nice to be able to see the streets of London and I don’t get as anxious as I do going underground. But it’s a lot slower than a tube! 

Our first bus wasn’t too much of a problem – I got on without any issues and although the bus took nearly twice as long as it was meant to, we got to our stop without too many issues. We then waited for our second bus and again, got on without any problems. We must have then moved no more than a few metres when the bus just stopped. For a while, I thought it was because the traffic was just being slow, but when I realised we hadn’t moved at all for well over 15 minutes, I asked my Dad if he could ask the bus driver what the problem was, as time was ticking and my appointment time was getting ever closer. It turned out that two buses in front of us had broken down in the middle of a crossroads, blocking traffic from all four exits. Passengers from our bus began to get off, as there was no way we would be going anywhere for a while. Obviously though, to get me off, we would need to put the ramp down, and where we were currently parked, the ramp would have gone straight into a wall. I was desperate to get off, as I was starting to get panicky about missing my appointment, so my Dad asked the driver if he would mind moving forward a tiny bit just so we could put the ramp out. He really wasn’t happy about doing it, and spent ages saying that he wouldn’t. I totally understand that his first priority was our safety, but it’s a horrible feeling to know you are literally held hostage somewhere just because there isn’t an accessible way out.

Eventually, thankfully, he could obviously see how upset I was getting, and he said as long as my Dad stood by the ramp to stop cyclists/motorbikes running into it, he would put the ramp down. I have never been so happy to get off a bus! We went up the road until we could find a dropped kerb and then managed to find a lovely taxi driver to take us the rest of the way. Taxis are probably the easiest method of transport for me in London, but they’re also the most expensive, and I just can’t afford to always travel by taxi just because I’m in a wheelchair. But this was a needs must situation! Somehow, we managed to get to the hospital five minutes before my appointment time, and were told they were running late anyway, so it gave my Dad time to grab some breakfast (I wasn’t allowed to eat) and for us to just de-stress a bit!

Before long, a male consultant was calling my name to come through for the test. By this point I was feeling quite anxious – I remembered having the test before and knew it wasn’t the most pleasant of things to have done. I have also had a feeding tube before, which was a pretty traumatic experience, so whenever I’ve needed a tube since, it has caused a lot of anxiety. Thankfully the consultant was incredibly calming – very softly spoken and went through the whole test with me, allowing me to ask any questions. He also offered me the option of having a numbing spray at the back of my throat – initially I wanted to go for it, but I asked what he would recommend and he said it was worth trying without to begin with so I trusted him on that.

He told me that they would pass a tube into my nose and then down my oesophagus into the top of my stomach. The tube has little sensors on it, which can record the movement of the oesophagus as you swallow food or drink. He said that we would start with me drinking little sips of water. After this, we might progress onto drinking a cup of water very quickly, and if they still needed more results he would ask me to eat some plain-microwaved rice (this actually sounded kind of appealing – I was starving!) 

There was a bed set up next to a monitor, and the consultant asked me whether I was able to transfer to the bed or whether I needed to stay in my wheelchair. I said I was happy to transfer to the bed, so the nurse helped me get into position. She covered me with a huge absorbent sheet (which made me feel a bit like I was at the dentist and was slightly concerned about what they were expecting to happen!) and gave me a sick bowl and some tissues. Then it was time to insert the tube – they could obviously tell I was anxious because the nurse sat next to me, held my hand and told me to take some deep breaths and try and relax (easier said than done!) They gave me a cup of water with a straw and told me to keep taking little sips as the tube went down. This is actually a tip I was given before I had my feeding tube put in but the staff doing that had never heard of it, so it’s good to see that these staff knew how much it could help. I would recommend it to anybody trying to have a tube put in.  

Unfortunately, after putting the tube in my right nostril, the consultant decided it wasn’t in the correct position, so they had to take it out and try again on the other side. Thankfully it went in fairly easily and strangely I didn’t gag at all. It’s an odd feeling having a tube going down your throat and I was very aware of it being there once it was in position. I remember that feeling so well from having my feeding tube (although as my body got used to it I would forget it was there). 

Once things had settled down a bit, the consultant began to squirt a small amount of water into my mouth. I would have to hold it in my mouth until he told me to swallow, then swallow once and stop swallowing until he said otherwise. This was by far the most difficult thing! It’s a natural reflex when you feel something in your throat that you swallow to get rid of it, so I was having a really hard time not swallowing. I think we had to do the test a lot more times than they actually needed because I just couldn’t stop swallowing after taking each mouthful of water. Eventually they suggested that, once I’d swallowed, I opened my mouth slightly and breathed through there – that definitely helped. I think I also began to calm down a bit, so with a mixture of breathing through my mouth and also closing my eyes and doing a bit of mindfulness, we managed to get through that part of the test.

The next part of the test was for me to drink a whole cup of water, as quickly as I could, and then stop swallowing when I had finished. Again, this was easier said than done. I can’t drink very quickly anyway because that feeling of liquid getting stuck starts to build up, so I begin to regurgitate the water and am either sick, start burping or having to swallow until that mouthful has gone down. So I think it took me longer than they were hoping for me to get through the whole cup of water. Again, once I’d finished, I tried to open my mouth, close my eyes and just take some deep breaths to keep myself calm and not swallow.

I was then expecting them to ask me to eat some rice, but the consultant told me they had everything they needed and they could take the tube out. I was a bit confused, and to be honest I wish I’d asked if the test had shown anything (although I’m not sure they would have been able to tell me). But I wasn’t sure why we were stopping and couldn’t work out if it was a positive thing (i.e. they’d been able to work out the problem) or a negative thing (i.e. they couldn’t see anything wrong so had given up). 

To take the tube out, the nurse gave me some tissue and a bowl and asked me to open my mouth a bit and hold the tissue over my mouth. I was fully expecting taking the tube out to be fairly easy, as I remembered it not being a huge deal when my feeding tube was taken out. But this was by far the worst bit for me. My eyes started watering (more so than they did when it was put in) and I started gagging and retching – hence the bowl I guess! It was also quite painful coming out, and left my throat and nose feeling quite sore afterwards. But it was over fairly quickly and I could clean myself up afterwards. Overall, the whole test probably only lasted about 20 minutes – much shorter than I’d expected, although obviously it would have been longer with the food part. 

The consultant explained that he would compare their findings to my last Oesophageal Manometry and send the report to my Professor to discuss with me. I don’t have an appointment date for seeing him at the moment, so I’ll give it a few weeks and if I still haven’t heard anything I’ll have to give his secretary a ring to see what I need to do next. I was absolutely exhausted after my test – partly because of my early start and also because it’s quite an invasive and stressful test, which I think just took it out of me. Our trip back home was less eventful thankfully, and I spent the rest of the day asleep on the sofa.

I’m just really hoping that this test might give us some idea of why I’ve started to have problems with my swallowing, and if it does, some ideas of treatment/management strategies for moving forward. Being told to just ‘get on with it’ when it comes to the symptoms of a chronic (or even an acute) illness, in my opinion, just isn’t right. I’ve heard it so many times before, and just because there isn’t a cure, or isn’t a treatment that will ‘make it better,’ it doesn’t mean that we still don’t need some help in learning how to live with and manage it in the future. I’m just glad my London Professor and his team understand this and I’m hoping this test will be a step forward in coming up with a plan for my swallowing difficulties. 

If you’re having an Oesophageal Manometry test soon and you have any questions, or if you would like to see a blog post about any other symptoms, conditions, tests or experiences I may have had, please do let me know, as I’m happy to talk about pretty much anything! I hope this has given you some insight into what this test is like - it's one thing reading the information leaflet that the hospital give you, but I think it's also really helpful to hear it first hand from a human being!

Have you had an Oesophageal Manometry? If so, how did you find it? Or do you have any experience of swallowing difficulties?

Tuesday, 5 March 2019

Recent Reads

 If you read my post about my Goals for 2019, then you’ll know that this year, I’m hoping to read a lot more. So I thought it would be quite nice to talk you through books that I’ve read, a few at a time, in case you’re looking for something new to read. I always think it’s quite nice to be recommended a book by someone else – it’s how I discover a lot of the books I read. Although I’ve called this post ‘Recent Reads’ I will admit that some of these books were read quite a few months ago, before I started on my goal of reading more! But hopefully you will still enjoy hearing a bit about them.

Things Get Better by Katie Piper

I’m a massive Katie Piper fan and have read a couple of her books before, so when this one popped up in my Amazon recommendations it made its way straight to my basket! It wasn’t actually what I was expecting, as I assumed it would be the next part of her story, following on from Beautiful and Beautiful Ever After. But with this book, Katie reflects on each stage of her recovery to help people feel like they’re not alone. I was worried I wouldn’t be able to relate to her experiences, but although she discusses how each stage relates to her own recovery, I found it very easy to apply my own experiences to what she was saying.

Katie discusses a whole range of emotions and situations including hitting rock bottom, counting your blessings, facing your fears, forgiveness, goal setting and dealing with setbacks. I could really relate my own problems with mental and physical health to the things she was saying in the book, and I liked the fact there are practical tips of things I could do to help myself depending on my stage of recovery. 

Overall, I really enjoyed this book and loved the way it is presented, as it makes it easy to dip in and out of. Unlike some self-help books, I didn’t find it at all patronising (probably because it is so personal to what Katie has been through, so I really felt like she understood) and I definitely picked up some good advice for getting through difficult times.

Billy and Me by Giovanna Fletcher

I’ll be completely honest and admit to the fact I had never really given Giovanna Fletcher much thought as an author before reading this book. I’d been watching and really enjoying her YouTube videos for quite a while, but for some reason it had never occurred to me that she might be a good writer. So when I saw this book in WHSmith as part of Zoella’s Book Club back in 2016, I read the blurb on the back and decided to pick it up. Now I’m only wishing I picked up one of her books sooner!

Billy and Me is a classic love story and perfect for if you want an easy to read book that will take you away from the stresses of day-to-day life. It’s about Sophie May, who works in a teashop in her little village and lives at home with her Mum. She gave up her dreams of going to university and travelling the world because of a secret she’s kept for years. But then Billy comes along – an ambitious actor who Sophie falls in love with. Her world is turned upside down as Billy whisks her away from the comfort of her quiet life and into the spotlight. 

The story follows Sophie and Billy’s blossoming relationship, but also looks at the secret that has kept Sophie stuck in her small town for so long. This was a book that I just couldn’t put down – just when you thought one thing was happening, something else would change things and another twist would make me keep on reading. I became really quite invested in the two main characters and desperately wanted to see them both happy together! After enjoying this book so much, I definitely now plan to read some other books by Giovanna Fletcher.

Room by Emma Donoghue

I love a good drama, whether it’s on the TV, in the cinema or in a book, so when my friend sent me this book as a present, I was excited to get stuck in. I had heard a lot of talk about the story, as it has also been made into a film (which I’m yet to see – I prefer to read a book before seeing the film adaptation) and from what I’d heard it sounded good.

The story is written from the perspective of Jack, aged five, who lives in a single, locked room with his Ma. I won’t lie; it took me a while to get into this book and to get my head around the writing style. As it’s written from the point of view of a five year old, the sentences can be a bit choppy and confusing, but once I’d got used to this style I found I started getting into the actual story a bit more. I did find the style of the book a little bit strange; as some of the speech felt a lot younger than most five year olds I’ve met, especially as his only role model is his Mother, who speaks perfectly normally.

Although I enjoyed the idea of the book, I do feel like it could have been a lot more gripping and interesting. I don’t want to give away any spoilers, but I just felt like the ‘climax’ of the story was actually a bit of a disappointment. As it was building up, I had all these hopes of what the story might hold, and I just wonder whether these could have been developed more than they were. I also felt like the second part of the book had stories in it that could have been explored in much more depth, and felt I had a lot of questions that weren’t really answered. I will be really interested to watch the film now and see how they’ve adapted it from the book.

My Beautiful Struggle by Jordan Bone

This is a book I had wanted to read for ages, as I’m a big fan of Jordan’s YouTube videos and attitude towards her disability. So when my blogging friend, Sophie, posted it on her Instagram Stories asking if anyone would like her finished copy, I quickly sent her a message. I was aware of the basics of Jordan’s story, but found reading her book gave me a much more in-depth knowledge of her accident and how it has affected her. Although I don’t have the same disability as her, I felt I was able to relate to a lot of what she wrote – the stages of getting your head round a life changing disability or illness, those initial bleak days of not knowing how you will continue and then moving forward and learning to live a life with your new restrictions. It was nice to feel like I wasn’t alone in some of the things I experience.

I really like how, in this book, Jordan relates parts of her journey to applying different types of make-up. It definitely helped the story to flow in an interesting way that I haven’t seen in other books before. And although the book addresses some really dark times in Jordan’s life, the relation to make-up just emphasises how she has turned her difficulties into something positive. I would always feel really uplifted and motivated after reading each chapter and was sad to get to the end. As someone with a disability, it’s so nice to find others that I can relate to and look up to, to bring something positive to my own life. And Jordan is definitely one of those people.

The Beach Café by Lucy Diamond

This is another of those easy-to-read, cosy, uplifting stories that just make you feel good inside. It follows the story of Evie, who has always been the black sheep of her family. She feels stuck in a life she isn’t enjoying with a boyfriend that just isn’t really ‘her’ anymore. But then her aunt Jo dies suddenly and leaves Evie her beloved beach café in Cornwall. It’s the opportunity that Evie needed – she leaves her old life behind and sets off for Cornwall to get the café, and her life, back on track.

Cornwall is somewhere I have only visited once briefly, but somewhere I am dying to see more of, so I absolutely loved reading through these pages and feeling like I was right there, in this cute little café looking out onto the beach. It’s your typical romantic novel, but as far as I’m concerned you can’t beat a good romance. I really liked Evie and could relate to her feelings of being lost in life and not knowing how to move forwards. So I think I became quite invested in her new venture of building the café back up again and finding love at the same time. There were a few twists and turns that added a bit more excitement and interest to the book, but overall it was just a nice book to snuggle down in the evening with (or take on holiday to read by the pool, if you’re lucky enough to be doing that!)

Christmas at Little Beach Street Bakery by Jenny Colgan

Jenny Colgan is fast becoming one of my favourite authors. I’ve already read her books about Rosie Hopkins and have a few others on my shelf that I’m waiting to read. This particular one was my Christmas read for 2018 and it was just what I want from a Christmas book – cosy, warm and heart warming. It’s about Polly Waterford who runs the Little Beach Street bakery in the Cornish coastal village of Mount Polbearne (can you tell I have a bit of a thing about Cornwall?!) She lives in an old lighthouse with her boyfriend, Huckle, and their adopted pet Puffin, Neil. 

This book visits Polly, Huckle and Neil in the lead up to Christmas, when Polly’s best friend Kerensa discloses a secret that could damage Polly and Huckle’s relationship forever. At the same time, a face from the past reappears and things for Polly become even more complicated. The story follows Polly trying to navigate these new obstacles and try to get things back on track so that everyone has a merry Christmas. For me, this was a lot more than just a simple romance story. There are secrets, betrayals and unexpected surprises along the way, as well as a lot of humour in the form of Neil the Puffin, all of which made it a really lovely book to relax with as the chaos of Christmas set in.

And that’s all my recent reads for you this time! I’m hoping to make this an on going series, so as I read a few more books, I can tell you about them each time and hopefully give you some inspiration for new reading material. If there are any books that you think I might enjoy, please do let me know, as I’m always looking for new things to read.     

What have you been reading recently? Have you read any of the books in this post, or will you be reading any now that you’ve read about them?

Tuesday, 26 February 2019

Rare Disease Day - Living with Ehlers-Danlos Syndrome

The 28th of February 2019 marks the twelfth international Rare Disease Day coordinated by EURORDIS. It’s a day when hundreds of patient organisations from all over the world hold activities to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. 1 in 20 people will live with a rare disease at some point in their life, but despite this, there is no cure for the majority of rare diseases and many go undiagnosed for years or even a lifetime.

So what is a rare disease?

In Europe, a disease or disorder is defined as rare when it affects less than 1 in 2000 people. There are over 6000 rare diseases, which cause patients a huge range of symptoms. These can vary between disorders, but symptoms can also differ between those suffering from the same disease. Misdiagnosis in rare diseases is, unfortunately, common, and this can lead to a delay in treatment and therefore affect a person’s quality of life. And with so few cures available, patients with rare diseases often endure high levels of pain and suffering, alongside their families. This is why awareness and research is so important.

I was born with a rare disease (Hypermobile Ehlers-Danlos Syndrome), but didn’t receive a diagnosis until I was 25. That wait for answers isn’t uncommon and it left me struggling with my mental health as well as my physical health. So today, I thought I would use this opportunity to talk about what it’s like to live with Ehlers-Danlos Syndrome (EDS) in the hope it will help people to understand, to recognise the symptoms and to invest in further research towards treatment and ultimately a cure.

The symptoms of Hypermobile EDS

Hypermobile EDS is thought to be the most common genetic connective tissue disorder, although at the moment there is no up-to-date research that reveals how frequently it occurs. You can either inherit the disease from a parent who has the same faulty gene, or it can be caused by a mutation during conception, meaning no one else in the family has it.

There are a whole host of symptoms and associated conditions that come with Hypermobile EDS, including, but not limited to:
·     Joint Hypermobility
·     Chronic Pain
·     Joint dislocations and subluxations
·     Smooth, stretchy skin
·     Fragile skin that bruises easily
·     Fatigue
·     Digestive problems such as Gastroparesis and Intestinal Dysmotility
·     Postural Orthostatic Tachycardia Syndrome (POTS) – dizziness, fainting, increased heart rate (especially on standing up)
·     Problems with internal organs such as mitral valve prolapse or organ prolapses
·     Problems with the bladder e.g. incontinence or retention
·     Mast Cell Activation Disorder

What’s it like to live with Ehlers-Danlos Syndrome?

I sometimes find it quite difficult to describe what life is like with EDS because I’ve never known any different! I can often forget that some of the things I experience aren’t ‘normal’ – for example, I sometimes forget that it’s not usual to be in constant pain or to spend half your life at hospital appointments!

Growing up, I didn’t know I had Ehlers-Danlos Syndrome, but looking back I can see constant signs of it. As a baby, I needed to be fitted with a Pavlik Harness to stop my hips from dislocating. Thankfully, it’s not something I remember, but I know it made life more difficult for my parents, especially when it came to nappy changes and the fact I couldn’t have a proper bath! As I got older, I was always injuring myself and spent many an evening in A&E with sprains and strains (probably caused by partial dislocations, but I didn’t know that at the time).

It was only when I was 15 though, that my EDS started to have a noticeable affect on my life. And, as I mentioned, it took until I was 25, another ten years, to be given the correct diagnosis. It probably sounds obvious, but life with Ehlers-Danlos Syndrome is hard. I’ll often try to play it down to friends and family because I don’t want to worry them or be known as the person who is always complaining, but having a rare disease (or several!) is incredibly difficult and scary. 

The constant widespread pain and debilitating fatigue is completely draining, and some days I will wake up and wonder how on earth I’m going to make it through another day. Although I now know what is wrong with me, it doesn’t take away how frightening it can be when your body is malfunctioning and there’s very little anyone can do about it. A relatively new symptom to crop up is that I’ve been finding it difficult to swallow. Such a basic function that most people take for granted, but at the moment every mouthful brings with it gagging, coughing and food getting stuck in my throat. And it’s massively anxiety provoking; not quite understanding why something else is going wrong and wondering whether there will be a solution or whether it will be something else that I just need to ‘live with’.

Yes, the actual physical symptoms are tough to live with, especially when there’s no treatment, but it’s the anxiety that comes alongside living with a rare disease that can often go unappreciated by others. People (friends, acquaintances and even medical professionals) often expect me to be used to spending time at medical appointments, in hospital and having tests, so it can be hard for them to understand that, just because I’ve been doing those things for a long time, it doesn’t make them any less scary! I’ve had people say to me, “Oh, I thought you’d be used to having blood tests by now?!” And yes, I am ‘used’ to it in the sense that I’ve lost count of the amount I’ve had. But being used to having to do something regularly doesn’t mean I don’t still get anxious about it! And it doesn’t stop these tests and procedures from hurting and making me feel unwell.

Living with a rare disease like Ehlers-Danlos Syndrome is also incredibly frustrating for a number of reasons. For example, I have a brain that doesn’t quite realise that my body doesn’t work properly! So I have all these thoughts, hopes and dreams of doing all sorts of amazing things, but my body just won’t keep up! I try not to discount things that I want to do straight away, because with a lot of things there is a way around my disabilities. But there are dreams I’ve had to give up on, such as becoming a Doctor, simply because my health isn’t good enough. And that really sucks! 

It’s also incredibly frustrating to have a disease that has very little treatment and no cure. I’ve had to lower my expectations dramatically from when I first got really unwell. At the age of 15, when my health began to fail, I would go to the doctors with the expectation of getting a diagnosis and some treatment to eventually feel better. But over the years, and since getting my EDS diagnosis, I’ve had to adjust my expectations of what the medical profession can do for me. I now know that I have a condition (and associated conditions) that are not well understood and have very few treatment options. I know that generally, when I go and see a doctor for a specific set of symptoms, the response is more than likely going to be that it’s something I will have to learn to live with and manage. I’m very much the kind of person who likes to fix something if it’s not working, so having a body that doesn’t work in that way is challenging to say the least!

Alongside this, living with a rare disease can feel incredibly lonely. If you have a fairly common chronic condition, the likelihood is that there will be a specific department at your local hospital that treats/manages this condition. There will be consultants who specialise in it, specialist nurses that you can contact if you need advice and possibly a local support group so you can talk to others going through similar problems. But for rare diseases, most of these things just don’t exist. I’ve been passed from pillar to post around my local hospital as doctors have tried to work out who would be best to look after me. These days, I usually end up being referred to specialists up in London (which is exhausting in it’s own right, although I am grateful to have their input) but even they don’t usually specialise in my particular disease – they tend to focus on a specific symptom/set of symptoms but not necessarily related to Ehlers-Danlos Syndrome. I don’t have any kind of specialist nurse as my first point of contact if things get worse or I need some help. And if I try to ring my local surgery or a secretary of one of my consultants, they are often at a loss of what to do with me because they don’t have knowledge of my rare disease. 

Thankfully there is a charity, EDS UK, who do all that they can for people with EDS – without them, it would be an even lonelier existence. I’ve reached out to them before when I’ve needed support or advice and I often read their latest research and attempts to make life better for people with EDS. They also run local support groups both on Facebook and in person, and so this does help to break to isolation that a rare disease can bring. I’ve lost a lot of friends over the years because of my illnesses – either they’ve drifted away because I can’t do the things they want to do or they haven’t understood my conditions – and it’s heart breaking. And it’s not that easy to make new friends because my poor health makes it difficult to get out and about as much as I’d like. I’m a naturally sociable person, so to be in a position where I have so little social contact has a massive affect on my mental health.

So as you can probably see, life with a rare disease is complicated. I did consider basing this post around the individual symptoms that I experience as part of my EDS and how they affect my daily life, but decided I wanted to speak about life with EDS more generally. However, if you would be interested to hear more about the symptoms I experience and ways I try and manage them, I would be happy to do another post around those issues, so do let me know.

My hope is that, with this post, I will help to raise awareness of rare diseases, Ehlers-Danlos Syndrome and what life is like when you have something ‘different’. In the future I would love to see more being done for the 1 in 20 of us who will have a rare disease at some point in our life. Whether that’s research into treatments and cures or just more support on offer to help people live with these often-incurable conditions. I hope that one day, having a rare disease won’t be such a lonely experience and that, one day, people won’t have to fight for years just to be listened to and to receive a diagnosis.

Do you have a rare disease? Or can you relate to anything I’ve spoken about in this post?