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Little mini update

Apologies for leaving you hanging after writing about my scary allergic reaction. I’m so sorry.

I did fall asleep eventually that night, though I woke myself several times, coughing and wheezing. That’s nothing new. Just asthma.

It has taken time to bounce back from that reaction, both physically and emotionally. Let’s start with the physical.

I haven’t had any more full-blown allergic reactions since the day after the reaction that I described to you here (and I still don’t know what caused either of them) but my lungs have been a bit ‘twitchy’. Twitchy isn’t the most technical word for what happens, but I can’t think of a better word to describe it.

Let’s go back to basics for a minute or two: asthma has three major components: inflammation, mucus and muscle spasm.

Everyone is familiar with the idea of mucus – it’s the gunky stuff that comes out of the nose of every toddler in existence, leaving sticky snail-trails down their faces and up the length of their sleeves once they’re old enough to wipe. Mucus in the lungs has to be coughed up and out of the lungs, otherwise it can provide a delicious breeding ground for bacteria.

The muscle spasm in the airways is responsible for the dramatic asthma ‘attacks’ that you’ve probably seen on television, and maybe also in real life – the small air passages within the lungs are wrapped in ‘smooth muscle’ (a type of muscle that is not under voluntary control). When the smooth muscle in the lungs contracts, the airways get narrower. In asthma, this muscle can spasm, causing the airways to get very narrow, which makes it very difficult to get air in and out. Most asthmatics will have a blue inhaler, which contains a medication to relax the smooth muscle in the lungs. Relaxing the muscle spasms that are closing off the airways can provide relief incredibly quickly, sometimes stopping the attack as quickly as it started.

Inflammation is the third and most insidious effect of asthma within the lungs. Mucus can be seen, once it’s coughed up, and muscle spasm can be felt, both in the sudden ‘attacks’ and the rapid relief after taking the blue inhaler, but there’s no way of seeing the inflamed, swollen and irritated airways without taking a fibreoptic camera into the lungs, which is more invasive than most people would like.

It’s the inflammation that is responsible for the ‘twitchy’ lungs. If the airways are puffy and inflamed, they are narrower than usual, so even just a small amount of muscle spasm can be enough to significantly reduce the amount of air that can get in and out. Inflamed airways are also filled with the immune cells that can trigger asthma attacks. If these cells are already in the airways in large numbers, the likelihood of a reaction being triggered is much more than if these cells are distributed throughout the body.

This is what I mean by ‘twitchy’ – asthma attacks are set off by the tiniest little triggers – things that would normally just cause a slight feeling of tightness in my lungs can cause a full-blown hospital-admission-worthy attack if my lungs are already on high-alert.

I took a ‘rescue course’ of steroid tablets for a week after the allergic reaction, and my lungs are just starting to feel ‘back to normal’. It takes time to get inflammation under control, and for many asthmatics, it’s not an intermittent thing. I use a steroid inhaler twice a day, every day to keep the inflammation in my lungs under control. I have been using inhaled steroids for twenty years now, and have had two long periods of high-dose oral steroids; five years for the first, and six years for the second. I have a rather love/hate relationship with steroids because they have some rather nasty side-effects, but they have kept me alive.

Physically, then, things are back under control. I don’t know what caused the reactions, but my lungs are getting back to normal. Emotionally, things are less straightforward. I don’t like the feeling of not knowing the cause of the reactions. If I don’t know the cause, I can’t stop any future reactions. I’m keeping my phone with me at all times, along with antihistamines and my epi-pens. My doctors would be thrilled!

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Hospital Pain Specialist

Yesterday I had an appointment with a consultant who specialises in pain management. I’ve been treated in this clinic, by the same consultant, for several years, and really appreciate his input and expertise. If nothing else, it reassures my other specialists, as they know that I’m not just wandering around on huge doses of strong medications, totally unsupervised!

I was greeted by the receptionist in the Pain Clinic, “You must be Joanna”

“You’re the last patient on Dr Painclinic’s list. Make yourself comfortable in the waiting area. Can I get you some water?”

I was taken aback by this wonderfully warm, kind and efficient receptionist, who chatted to me while I waited, at the same time as preparing paperwork and tidying the reception desk. It would have been so easy for her to ignore me once I’d confirmed my name, and I wouldn’t have blamed her if she had wanted to hide behind the desk by the end of a long and busy clinic.

Getting to the hospital had been stressful. I had missed several buses because the wheelchair space was being used by pushchairs, and had the same problem with the lifts at the hospital. By the time I got to the clinic I was feeling thoroughly unwell after sitting up for so long: I was cold and shivering, in pain (appropriately), dizzy, nauseous and exhausted. The receptionist made me feel so much better. Nothing she (or I) could do about the symptoms, but she was kind, which helped everything else.

I really like my consultant in the pain clinic. He has been on my Dream Team (the specialists that I see regularly and who really get to know me, as opposed to those who offer their expertise from outside the inner circle) for several years, and feel that he really ‘gets’ my complex medical history.

We have a plan to continue increasing one medication very gradually. I have a target dose and a rough schedule for increasing the dose over the next six months, along with a Plan B if the side effects are problematic. I’ve been gradually increasing the dose for several years, so this schedule is nothing new, but it’s reassuring to have someone in charge.

We are also increasing the dose of the medication that I take for breakthrough pain, and Dr Painclinic wrote a prescription for a two week supply of the new dose (6 kg*),for me to collect from the hospital pharmacy. I’m currently on a dose of 4 kg, so this is the next dose available.

When I take a prescription for this medication to my local pharmacy they have to order it from their wholesaler and I collect it the following day. I was quite pleased that Dr Painclinic had given me a hospital prescription, rather than asking my GP to start the medication, so I could get the new dose straight away.

I took the prescription to the hospital pharmacy, showed my medical exemption card, took a number and waited. Worryingly quickly a pharmacist came out to talk to me. She told me that “basically your doctor has written this wrong.”

The prescribed medication is a controlled drug, so there are lots of specific rules about how the prescription should be written, so I wasn’t totally surprised, but I had watched Dr Painclinic write the prescription by hand, and it looked alright to me.

I asked the pharmacist to show me the problem, and she pointed out the dose.

“Basically your doctor has written this wrong because the dose should be 2 kg, and he’s written 6 kg. I’ve been trying to call him so he can change it.”

Slightly taken aback, I started to explain that Dr Painclinic had written 6 kg because he wanted me to be on a dose of 6 kg. I currently take a dose of 4 kg, and it’s being increased from 4 kg to 6 kg. He hadn’t written 2 kg because he didn’t want me to have 2 kg (the type of medication and the way it’s administered means that I can’t just take three of the 2 kg dose each time).

The pharmacist told me that she would ask ‘next door’ (the inpatient, rather than outpatient, pharmacy), which sounded promising, but she came back to tell me that she still couldn’t get in touch with Dr Painclinic, even on his personal mobile, to change the dose to 2 kg.

Stifling giggles/tears, I asked the pharmacist if they could perhaps order the 6 kg dose, rather than asking the doctor to prescribe a different dose. She looked doubtful but went off to ‘call downstairs’ to order the new dose. On her return, she told me that no-one had ever ordered such a high dose (the highest available dose is 16 kg). The pharmacy would hear from ‘downstairs’ tomorrow as to whether they can order the dose I need, and how long it would take. She offered to give me the 2 kg dose to ‘tide me over’.

I gave them my mobile number, so they can keep me updated, and left in a cloud of indignation.

Almost immediately I realised that it might be easier to get an outpatient prescription from my GP, so I had to go back to the hospital pharmacy for a photocopy of the paperwork, trying not to look like the same person that had just whirled out of there in a huff.

There is almost nothing worse than a failed exit.

*I don’t really take 4 kg of this, or any, medication, though it sometimes feels like it. I’m not sure yet whether I want to specify the names and doses of the medications that I take, so this is a deliberately ludicrous dose

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Update

Allergic

I had an allergic reaction to something this afternoon.

My tongue and throat started to feel a bit scratchy, and then my eyes started to get red and itchy, and to swell up, with the muscles around my eyes spasming them closed.

I took some antihistamines.

The scratchy feeling in my throat became clusters of blisters over the roof of my mouth, over my tongue and down my throat.

I took a dose of another antihistamine that blocks a different type of histamine receptor.

I found my ‘allergy bag’ which has medications, including injectable adrenaline (everyone wanted to be my friend on sports day). I started to make my way downstairs, in case I had to do the dash to hospital in an ambulance, keeping a tight grip on the allergy bag, epi-pen and mobile phone.

My throat, mouth, tongue and lips continued to swell and my breathing started to feel more difficult. Inhalers and nebulisers, monitoring my heart rate and oxygen % saturations.

It’s been a long time since my asthma has been severe enough for a hospital admission. More than 2 1/2 years, in fact. Part of me started to panic at the memories of terrified clock-watching in the intensive care unit, dragging oxygen into my overfilled lungs; forcing the air out; muscles shaking and burning with the effort of every breath. Worse, the memories of being surrounded by doctors, nurses, anaesthetists. They gather round, bend over my bed, close in on me, then the medications, ventilator and blessed rest.

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In 2011, I spent five months in hospital, in total. I got out of hospital almost exactly 48 hours before my wedding, and was back in hospital just a few days after the honeymoon.

I try not to think of the stable asthma that has taken so much careful monitoring and treatment. I try not to think of the events that I missed because of unstable life-threatening asthma; the plans that we didn’t/couldn’t make for the future; the 30th birthday ‘celebrations’ in intensive care; having to sign release forms to leave the hospital against medical advice for my dad’s funeral.

Today’s afternoon turned into evening, and things steadfastly refused to settle. I took the maximum ‘rescue’ dose of steroids, another dose of both types of antihistamine, plus a third antihistamine, plus inhalers. Inhalers and nebulisers again and again and again.

Have you been back to the beginning of this blog post to see if you missed a crucial bit of the story? Are you wondering why this story doesn’t feature an allergen?

Yes, that worried me too.

The only obviously new thing, on a day with low pollen and good air quality, is the laundry, hanging in the next room to dry. The smell of the new fabric softener immediately caught in my throat, but there’s a world of difference between an unpleasantly overpowering fragrance and something that causes my mouth, tongue, throat and lips to swell and close, and my airways to tighten, isn’t there?

I wrote about unstable mast cells recently, and I think they might be able to take credit for this seemingly-unprovoked reaction.

My husband moved the laundry downstairs when he got home, and things have been stable-ish since then. I’m no longer clutching my phone, 999 ready on the screen, epi-pen hovering.

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Feeling a bit better now. My heart rate is the top number (normal = 60-100 beats per minute), oxygen % saturation is the lower number (normal > 94%). Not good numbers, but not getting worse. My throat and tongue are less swollen, and the crazy itching has subsided.

I’m still scared to close my eyes; to let sleep take me. I’ll have one last nebuliser treatment, and set the oxygen monitor to beep if my saturations (sats) drop below 88% and hope that things will be easier when I wake.

Deep breath…

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A Fate Worse Than Death

I was deeply saddened to read about the death of Robin Williams this week. I loved many of his films, which have followed me from childhood, through the teenage years and early adulthood, and into my thirties, but I didn’t know him. I can’t claim any connection to him or his family, and it would be hypocritical of me to suggest that I’m heartbroken or grieving at the news of his death. The public mourning and eulogising following any celebrity death always seems disproportionate to me, and even more so in light of the enormously high number of deaths in recent weeks in Gaza, Ukraine, Syria, Iraq, West Africa, to name just a few.

More than the fact of his death, it is the way in which Robin Williams died that makes me sad. I feel sad that he got to the point of feeling that suicide was the best course of action; that there was nothing in life that could make living seem preferable to dying; that the many people who loved him would be better off without him. I’ve thought those thoughts, and have truly believed that the world would be a better place without me in it, but that’s not why I’m writing now. In fact, I’m not really even writing about Robin Williams – there has been so much written already, by writers far more eloquent than me, and with more reason to write about his life and death.

In the immediate aftermath of Robin Williams’ suicide, the media speculated almost incessantly about why he had killed himself. He was ‘battling’ addictions, depression and anxiety, was in debt, and was forced to make films that he didn’t want to make, in order to pay the bills. This speculation all but stopped when his wife revealed that Robin Williams had been diagnosed with Parkinson’s disease.

“Of course!” the media responded. Of course that explains why Robin Williams would choose to end his life.

I don’t want to belittle the seriousness of a diagnosis like this, or to downplay the difficulty of facing a future with the certainty of progressive disability.

What I do want to question is the collective mindset that living with a serious illness or disability is worse than death.

I have had too many people tell me that I’m brave for staying alive despite my physical disability. They express surprise that I seem happy, and something verging on disbelief when I tell them that I am happy most of the time. They tell me that they would kill themselves if they became wheelchair-bound. Another instance of malfunctioning internal filters (that link will take you back to a post I wrote last week).

Do a little thought experiment with me:

Think about the things that you love about life. Think about the people in your life, about your work and your hobbies. Think about the big things that make your life wonderful, and the little things that can turn a day around for you. Think about books that you’ve read, music you’ve heard, places you’ve been, films you’ve watched. Think about your past, about the stories you love to tell, the things you’ve achieved, things that make you smile, and things that make you proud. Think about the future, your plans for holidays and upcoming celebrations, bigger plans (maybe you have a Five Year Plan?), things you want to learn, see, and experience. Now think about who you are, and the things that make you who you are.

What would happen to you if you became ill and/or disabled?

Some of the things above would change, but some of them would stay the same. You might find that you can still find pleasure in life – maybe in travel, food, learning new skills, or in good company. You might still be able to do many of the things that make you who you are, and you may be able to learn, grow and develop in ways you had never imagined.

I don’t want you to think that it is easy (is your life currently easy?) but I want you to believe that it might be possible to enjoy life even if you were to become seriously ill or disabled. I want you to think critically about the media assertion that you would be better off dead, or that it would be perfectly understandable if you killed yourself in such circumstances.

We will probably never understand why Robin Williams decided to kill himself. The reason may have been his diagnosis of Parkinson’s disease, but it might have been something else, or lots of things. It may have been that depression had simply sucked all the life out of his life, until there was nothing left.

To say that life with a disability is not worth living is to vastly oversimplify. It weaves a misty tapestry of fear and myth around illness and disability, telling disabled people that their life is hardly worthy of the name, and telling able-bodied people that they should count themselves lucky not to be disabled. It’s hardly a strong foundation for an inclusive society, is it?

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Payback

Everything I do, even just sitting up in bed, requires muscle tension in order to protect my joints, because the ligaments that should hold my joints in place while my muscles are relaxed are incompetent.

This means that everything is tiring.

For every activity there will be payback.

Payback might mean slightly higher pain levels, or having to take a nap in the afternoon.

Sometimes, however, payback can be extreme: after travelling to Edinburgh for a Very Important Wedding last year, I spent five days lying completely flat in a darkened room, unable to sit up without assistance.

My exhausted muscles could no longer hold my joints in place, so I had to be packed carefully with pillows and cushions and bubble-wrap (no, not really) to protect my joints while I slept. Because my joints are so unstable, they dislocated and subluxed (partial dislocations) with even the slightest movement, causing pain, which meant that I couldn’t sleep deeply, which would allow my muscles to recover.

My autonomic nervous system (the one that regulates all the things you don’t think about, like blood pressure, heart rate, body temperature) went into meltdown. There is no official definition of autonomic meltdown, even on Wikipedia, but it basically consists of everything being wrong. When I sat up my blood pressure would fall off the edge of the bed, and I would pass out and follow it off the bed, dislocating things along the way. My heart rate would skyrocket in response to any movement, and my oxygen levels (which should be above 94%) would only stay above 90% if I stayed very, very still. For days and days, each of which felt like an eternity.

For a while, I couldn’t speak much above a whisper, because I didn’t have enough energy.

I felt really upset and angry about this payback, and so frustrated that I have to pay such a heavy price for trying to live an ordinary life.

Sometimes the price seems proportionate, like those few days of total meltdown after travelling to Edinburgh and back in three days. I knew the fallout from that would be huge.

Sometimes, however, the payback seems utterly ludicrous: two days in bed for washing my hair?

No way. I can use dry shampoo.

I sometimes think about writing a list of activities and the corresponding payback. It would be a great idea, if only the payback prices would stay the same.

How much I pay for doing something depends on so many factors: what else I’ve been doing that day or that week, what the weather is like, if I’ve had ‘serious’ joint injuries recently, if I have an infection, if I’m dehydrated or anaemic, the choices I’ve made about medication, tube feeding and which wheelchair I use…

My current system is to choose activities based on a scale of ‘worth-it-ness’ – I spend my energy on things that are important to me; that validate me and make me feel like ‘me’, that contribute to the legacy I will leave (this includes time spent with those that mean the most to me), and screw the cost.

I would seriously resent having to rest all day so that the house isn’t covered in cat hair. Unloading the dishwasher doesn’t add anything to my sense of achievement at the end of the day. Lying awake at night, in pain, there is no comfort in the thought that I conquered the supermarket, and put away the grocery shopping, however neatly.

So I delegate. I shop for just about everything online, from groceries to Christmas gifts. I have a cleaner and two carers. I choose to interact by Skype or text (whatsapp, Viber, Facebook, Twitter, wordpress), and to type cards and address labels rather than writing by hand (my writing is slow, painful and laborious).

Most of all, I try to stay focused on the people, activities and objects that I love, and that give me a sense of purpose and validation, whatever the physical cost.

If you’re reading this, you’re probably one of the reasons that I still think life is worth living.

Thank you.

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The Internal Filter

The internet is full of articles, lists and rants about things that one shouldn’t say to a person with a life-limiting illness or disability. I think that many of the things on those lists are a matter of personal experience. I quite enjoy, for example, being told that I look well, but a person who doesn’t yet have a diagnosis might hear that phrase, however kindly meant, as a way of questioning, or invalidating, their suffering.

Most people have an internal filter of some kind. It is used to edit the available thoughts into those that are right for this place; this time; this audience. With varying degrees of awareness, we select or reject the stories, anecdotes, debates, queries and words that run through our minds, allowing some to be spoken, some to be put aside for another time, and some to be censored entirely.

I want to be able to have a conversation with you. I want you to feel able to ask questions, to offer help, to talk about the state of my crumbling and decrepit body, or maybe just about the weather, current affairs, or the latest book you’ve read. I don’t want these conversations to be lexical assault courses, leaving you exhausted from hurdling handicapped, sprinting past spastic, ducking, diving and dodging diagnosis, deterioration, death, demise.

There are so many words, from the dictionary or slang; words borrowed from other languages. There are so many cultural variations, euphemisms and idioms, and so many different people, with different experiences, background, education, and understanding of language and disability. I hate the thought that someone might not talk to me because they’re scared by this minefield of words, and don’t want to cause offence or hurt my feelings.

I hate the idea that I might be ignored and isolated because some internal filter blocks all avenues of conversation, and as a general rule, I would rather people talked to me than not.

There are exceptions to this, of course, and many of you will have heard this story, but I’ll tell it again, for posterity.

It happened one evening, as I was on my way home from work, navigating the underground sea of commuters. I was wearing a suit, stilettos, a wheelchair, and the blank stare of a long day. I paused, considering whether to go out for a drink with friends, or to heed the siren-call of my bed. A man in a suit walked towards me, and I smiled, as most Londoners do when approached by complete strangers.

“I hope you don’t mind,” he began, “but I wanted to let you know that I was having an awfully bad day today, and then I saw you, and realised that in comparison to yours, my life isn’t so bad, after all, so thank you.”

Years later, I still haven’t thought of a response, except the silent wish that his internal filter had killed and buried that thought before he could share it with me.

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The effects of EDS on the entire body

In my first post I wrote a little bit about Ehlers-Danlos syndrome (EDS).

I’d like to give you a quick overview (hahaha – quick!) of the different ways in which my body is affected, so here’s a little reminder of the basics before I start:

Collagen is a protein that helps to provide strength and stability to many of the tissues within the body. By ’tissues’ I mean a group or layer of cells that perform specific functionsBy this definition, bone is a type of tissue, as is skin, and the coating around nerves and blood vessels. Organs may be composed of several different types of tissue.

EDS collagen is not strong or rigid – it is weak and stretchy.

Because collagen is found throughout the body, the signs of EDS can be found in just about every organ and body system. I’ll write more about the medical specialists and their developing understanding of the complexities of EDS in another post. Here, I just want to tell you about how this condition affects me.

Joints

My joints are unstable, and dislocate very easily because the ligaments that should hold them in place are stretchy and weak. There is a capsule around each joint, which provides a ‘safety net’ and can hold the joint in place to some extent if the ligaments are weak. My joint capsules are stretchy and don’t provide any sort of safety net. Some of my joints dislocate or sublux (partially dislocate) numerous times a day; others less frequently. Every time a joint dislocates, the tissues around it stretch or tear, and there may be damage to the other structures nearby – blood vessels, nerves, etc. It is possible to surgically ‘fix’ some of this damage, and to stabilise some joints so that they don’t dislocate (or at least dislocate less often). Unfortunately, surgery that involves the soft tissues is unlikely to last, and surgery that involves the bones is complicated, risky and very painful, and may involve lengthy rehabilitation.

As an example, I have had numerous operations on both wrists. I have had operations to tighten the capsule around the joint to hold the joint in place. I have had operations to shorten the tendons so that they are tight and hold the joint in place and prevent dislocations. Most of these operations were performed before I was diagnosed with EDS. With the benefit of hindsight, these operations were always going to fail. The joint capsule stretched again within a matter of weeks, and my wrist started to dislocate again. The surgically-shortened tendons stretched back to their full length (and more) within days, and my wrist started to dislocate again. I can’t tell you how disappointed I was to have gone through so many surgeries, each with long periods in a plaster cast (or similar), only to be back in the same position in less time than I’d spent in plaster. The only way to stop my joints dislocating is to fuse the bones together, locking them securely in one position with metalwork and bone grafts. This is fine for joints that had relatively limited range of motion to start with (I’ve had both my thumbs fused with great success), but to have a joint like a knee fused in one position (bent, straight, or somewhere in between) would make life rather difficult.

I have certain bony deformities because of the stretchy connective tissue between the bones, and/or structural damage as a result of dislocations. One of these is a cervical kyphosis (my neck curves outwards instead of inwards). It is painful, and puts extra stress on some of my muscles, tendons and ligaments because of the abnormal position of the bones. I have glenohumeral dysplasia (my shoulder socket is too shallow), hip dysplasia (my hip sockets are too shallow) and patellofemoral dysplasia: there is no groove for my kneecap, which should be formed by lumps on my femur and tibia, and a pointy bit on my kneecaps to sit in the groove – I don’t have any of those things – a flat kneecap and flat femur and tibia.

Pain

Most of the pain is as a result of joint dislocations, but it is currently believed that people with EDS have abnormally sensitive nerves, causing far more pain than would be felt by ‘normal’ people. Rather frustratingly, people with EDS are also resistant, or relatively resistant, to local anaesthetics, sedatives and painkillers. When a relative of mine had terminal cancer, he was given a patch to stick on his skin, which would deliver a constant dose of a strong painkiller. This helped a lot with his pain, and made him quite drowsy. I remember being quite shocked that I have no noticeable sedation and inadequate pain relief from a patch EIGHT times as strong.

Chronic pain is frustrating because if the pain is ignored, the body responds by amplifying the signals from the pain nerves. This is fair enough if the pain is a warning about severe damage, and if it is a signal to me to take my hand out of the fire, for example, but when there is nothing I can do about the damage to the joint, it would be nice if the pain would give up and go away!

Despite being extremely resistant to some medications for pain, I am strangely sensitive to others, and have had to increase the dose of an atypical painkiller (originally developed from a medication for epilepsy, but found to have a good effect on chronic pain) very slowly. I have been taking this medication for over three years now, and I am still gradually increasing the dose – I have a long way to go before I get to the maximum dose. It took me over 6 months just to get to a therapeutic dose (one that would be expected to do anything at all). I am adjusting to the side effects now. They are annoying for a week of two and then manageable. I’m really proud of myself for not giving up on this medication, especially now that I’ve reached a dose that helps to control my pain.

Bladder

I’m going to get this section out of the way quickly because I find it extremely embarrassing and upsetting, and find it difficult to tell people about something that should be so private.

My bladder is stretchy. Most people would be crossing their legs and hopping from one leg to the other if their bladder contained 500ml of urine. Mine will quite routinely hold 1100ml. I had some tests done at the end of last year, which showed that my bladder muscle doesn’t really work at all, though it will sometimes spasm, which causes leakage of urine. I’ve been self-catheterising for over a decade (I insert a very small catheter into my bladder to drain it into the toilet, then remove the catheter and throw it away), but because my bladder gets so full before I have any sensation from it, I have to catheterise on a timed schedule. I’m on a waiting list for a surgical procedure to inject botox into my bladder, which will totally paralyse the muscle and prevent the spasms that I get, which should stop the intermittent incontinence.

If the bladder doesn’t empty properly, bacteria in the urine that is left behind in the bladder can grow out of control, causing symptoms of infection. This infection can be just in the bladder (which is pretty unpleasant) or it can spread to the kidneys, where it can really wreak havoc. When my bladder spasms, the urine tends to come out by the usual route, but it can also be pushed back into the kidney, which can cause all sorts of damage, especially if there is an infection at the same time. Infections in any part of the urinary tract (kidneys, bladder, the tubes between the kidneys and the bladder – ureters – or the tube from the bladder to the outside world – urethra) are known by the collective term, Urinary Tract Infection, or UTI.

Digestive System

When you eat food, you chew it and then swallow it – the food goes down the oesophagus and into your stomach. It may sit in your stomach for a while, being churned and mixed with acids and enzymes, before being pushed, a little at a time, into your small intestine (duodenum, then jejunum, then ileum, then cecum), where it spends time being absorbed, stripped of anything useful, and on into the large intestine, where more water is removed, and finally, once your body has finished with it, it is ejected, and you think no more of it.

All of this travelling, from mouth to anus, is powered by muscular contractions within the walls of the digestive tract. These timed contractions are called peristalsis and they propel the food through each stage of its journey.

My digestive tract is stretchy. Are you bored of the word ‘stretchy’ yet? Good thing you’re not playing drinking games while reading this…

I had a gastric emptying study a couple of years ago, which involved me eating some radioactive mashed potato, and then sitting under a scanner, walking around for a bit, then back to the scanner, etc. For four hours. After four hours, most people will have less than 10% of their meal left in the stomach, unless it was an unusually large or fatty meal. I had almost 100% of the mashed potato left in my stomach after four hours. I even had radioactive mashed potato left in my oesophagus after four hours. It hadn’t even made it to my stomach! I had an appointment recently to test the function of my small intestine. It failed because they couldn’t get the probe (which was pushed down my nose and into my stomach) out of my stomach and into my small intestines.

My stretchy stomach doesn’t churn food very well. It also doesn’t allow food to move through into my intestines. I had botox injected into the exit valve (pylorus) of my stomach, in the hope that it would allow food to just trickle through. This didn’t work terribly well, so they did it again a week later. When it still didn’t work, they put a feeding tube from my nose into my small intestine, totally bypassing my stomach. I vomited this tube up three times, and each time it was replaced. Eventually, I had a tube placed through the skin on my abdomen into my jejunum – a jejunostomy tube, through which I have received most of my medications and nutrition ever since.

My problems don’t end with the stomach – there was a lot of emphasis about trying to bypass my stomach, or even place a type of pacemaker into my stomach to make it empty into the small intestine. After a while, we all realised that it wasn’t just my stomach, but my entire digestive tract. It can take up to 14 days for food to make its way through my entire digestive system. You know the ‘experiment’ that you do when you eat sweetcorn? That.

The current debate is whether I should be fed into a vein near my heart (via the Hickman line that I already have), which is very risky because the feeding solution is so sugary, and bacteria loooove sugar. It’s also damaging to the liver in the long term, and can have other serious effects on the body. On the plus-side, I have felt brilliant when I’ve had it in hospital, for a couple of weeks at a time. I have more energy, my skin and hair look good, and my joints are slightly more stable. I saw my consultant on Friday, and her feeling is that she wants to wait until I am seriously underweight, as the risks of IV feeding are so great.

Immune system

EDS has a couple of different effects, which are seemingly opposite. There is a deficiency of one particular type of antibody, which means that the immune system is underreactive and can’t fight off certain types of bacteria. Almost all of the many infections I’ve had in the last few years have been caused by gram-negative bacteria, of various types. On the other hand, my immune system is overreactive, because I have a mast cell activation disorder.

Mast cells are like little grenades, circulating around the body. They are filled with histamine and other inflammatory chemicals. When the body encounters an allergen, it triggers a particular antibody to be released, which can ‘pull the pin’ on the grenade-like mast cells, releasing the histamine and inflammatory chemicals. The histamine causes swelling in the airways, tongue and throat (and some other places too), hives all over the body, and a drop in blood pressure. This is anaphylaxis, which is a severe type of allergic reaction.

Mast cell activation disorders occur when the mast cells are unstable. Using the grenade analogy again, they have a loose pin. Instead of waiting for the antibodies to tell them that an allergen is present, they decide all by themselves, and release the chemicals that lead to anaphylactic shock. This reaction is usually in response to particular foods or medications that are known to have an effect on mast cells that are a bit unstable. There’s a helpful list on the Allergy UK website that lists foods that are known to destabilise mast cells. I am sensitive to almost half of the foods on that list. Some people with EDS also have a deficiency in diamine oxidase, which is responsible for getting rid of the histamine that is present in some foods, and for clearing up the histamine that is released by mast cells after an allergic reaction. This makes them very sensitive to foods that contain histamine, which are also listed on the Allergy UK website on the above link.

Endocrine system

The endocrine system is responsible for the hormones in the body. Endocrinologists may look after people with conditions as diverse as diabetes and testosterone deficiency.

People with EDS sometimes have problems with a chemical in their digestive system that causes reactive hypoglycaemia. I had a test for this condition, which involved drinking a sugar solution then having my blood tested every 15 minutes for four hours. Yes, they took a vial of my blood every 15 minutes for four hours. And then I didn’t even have the condition they were looking for. In fact, as a result of that test, they diagnosed me with diabetes. Ugh! I had the test done in January and saw the doctor in clinic to receive the results in July. Yes, it took six months, and a LOT of telephone calls and chasing from me to get the results of the test. I was then referred to the diabetes clinic at King’s as an urgent case. As a result, I’ll be seeing them in October to talk about possibly starting insulin treatment.

The heart

Some people with EDS have a problem with one of the valves in their hearts (mitral valve prolapse). Thankfully, I don’t have that problem. I do, however, have problems with my autonomic nervous system. This is either treated by cardiologists or neurologists or, in my case, both. The autonomic nervous system is responsible for keeping a constant internal environment within the body, even when there are changes in the external environment. One example of this might be controlling body temperature. If you walk out of the house on a hot day, you might start to sweat, which is your body working to reduce the effect of the high outside temperature and keep the temperature within your body the same.

In lots of ways, the autonomic nervous syndrome is like the Chuckle brothers. It has two parts – one of which causes the ‘fight or flight’ response, while the other promotes ‘rest and digest’ functions. They can both work at the same time, and often work a bit at a time as they adjust things like heart rate, blood pressure, body temperature, etc. on a moment by moment basis – to me, to you, to me, to you…

I have severe autonomic dysfunction. The part of the autonomic nervous system that promotes ‘rest and digest’ functions and turns off the ‘fight or flight’ response (the parasympathetic nervous system) doesn’t really work in my body. My heart rate is almost always high (more than 100 beats per minute) and gets even higher when I stand up or move around. I’ve stopped checking it most of the time because it’s scary to see my heart rate go over 180 bpm just by going downstairs. Recently, I’ve had a lot of problems with my oxygen levels being too low, which makes me feel a bit woozy. Combined with low blood pressure and fast heart rate, abnormal blood sugars and an inability to control my body temperature, that makes me feel pretty icky a lot of the time.

Another problem with my heart is that the electrical conduction is slightly skewed. My heart takes longer to get through one part of the electrical cycle than it should, which allows time for abnormal electrical signals to come in during the gap and cause an abnormal beat, which could cause my heart to beat erratically, or to stop altogether. It’s called long-QT syndrome, and can sometimes cause sudden death in young people. I have to avoid lots of medications as a result of this condition.

In addition to all these things, I have a heart murmur. It’s not a structural problem, but is a sign that my heart is under stress from all the different things that are wrong with it, and with the other parts of my body, which have an impact on my heart and circulation. It’s important for me to have infections treated, and to avoid situations (like standing up) that cause my heart rate to increase beyond a certain level.

Hearing

It seems almost trivial after everything else, but I’m totally deaf in one ear. This could be related to EDS and/or long-QT syndrome, or it could be totally unrelated. I have a bone-anchored hearing aid (BAHA) on the left side, which picks up sound from my left side, translates it into vibrations, which travel through the bone of my skull and are picked up by the intact nerve in my right ear. I still can’t locate sounds, and don’t have any sense of ‘stereo sound’, but despite that, the BAHA has been one of the best medical interventions I’ve ever had (along with my thumb fusions and Hickman line placement).

Pending diagnoses:

Tethered cord syndrome: It’s relatively common for people with EDS to have a problem with their spinal cords, so that they are stretched abnormally, which can cause spinal nerve damage. I had a scan a couple of months ago to see if this is affecting my spine.

Mitochondrial myopathy: mitochondria are the power generators inside each cell of the body. If there is a problem with their function, organs/systems that require a lot of energy, e.g. heart, digestive system, immune system, tend not to work so well. One common problem is an inability to process lactate properly. When I’ve been admitted to hospital, it’s often been noted that my lactate levels are very high, which can cause my body to be too acidic, leading to some functions not working properly. I’ve recently realised, with my doctors, that I’m also very sensitive to Hartmann’s solution, which is a type of IV fluid, and which contains latate. It causes me a lot of muscle pain, which would make sense if I’m not able to process lactate properly and get rid of it from my body. Mitochondrial diseases are not yet well understood, but it is believed that they may be linked to EDS in some cases. There is no cure, but treatments involve avoiding infections and any other physical stressors, aggressive treatments of physical symptoms to prevent deterioration, and supplementation of the vitamins and minerals that may support mitochondrial function.

So…

There we are.

I was planning to add some pictures to break up all those words, but I don’t think I can bear to go back and reread it. I can write about all these things happening to my body relatively dispassionately, but there are times when I can’t dissociate myself from my body any longer, and each word is like another crack in my ability to deal with this condition that is breaking my body apart, one piece at a time. So I’m not even going to go back and spell-check. Sorry, but you’ll have to work out the typos on your own.

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