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.
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.
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.
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.
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.
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.
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.
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.
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).
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.
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.