The executive summary: I have Ehlers-Danlos syndrome (EDS), which is a genetic disorder (more on that below). As a result of the EDS, I have autonomic dysfunction, gastroparesis and pan-enteric dysmotility and hearing loss. I also have severe asthma.
This is a genetic disorder
that causes the collagen (which acts as a strong and rigid 'scaffolding'
within many tissues of the body) to be stretchy and fragile.
Incompetent collagen is responsible for a number of different symptoms
which, at first glance, might seem unrelated:
Stretchy ligaments cause multiple frequent joint dislocations (or
subluxations - partial dislocations), which can cause damage to the
bones, the joints themselves, and surrounding tissues (muscles, blood
vessels, cartilage, etc.). Pain is a hallmark of this syndrome, as I'm
sure you can imagine, given that joints are constantly sliding around
within their sockets and joint capsules, often slipping out of joint
completely, pulling, stretching and tearing structures in their way. Joint damage tends to be cumulative, with osteoarthritis occurring at a much younger age than in 'normal' people.
- Weakness and fatigue: Because my ligaments don't do a terribly good job of holding my joints together, my muscles have to work extra hard to stabilise my joints, even when I'm just sitting or lying down. This extra work means that even small activities take a lot of energy. Because my joints are so unstable, I struggle with anything that requires strength. I'll give you an example: if I try to pull a heavy door open, it's more likely that the door will stay still and my joints will dislocate.
- Collagen is also found in the skin, where it does pretty much the same job as it does everywhere else in the body, which is to provide strength and stability. As we've established, my collagen is weak and fragile. So my skin tears very easily. It's easy to cut (or so I've been told by surgeons - I've not tried it myself), heals slowly, and scars badly. I bleed easily, burn like a vampire in the sun, and bruise like a peach. My skin is very soft, very thin (almost translucent) and very pale.
-Deafness: I've been totally deaf in my left ear since I was a toddler. This could have been the result of a virus, but there's also a link between hearing loss and EDS. Either way, it doesn't particularly matter. I have a bone-anchored hearing aid (BAHA), which is a small box that clips onto a titanium 'abutment' - this is screwed into the bone of my skull. The BAHA converts sound into vibrations, which travel through the bone and are detected by the (working) nerves of my right ear. Clever.
Gastroparesis and pan-enteric dysmotility:
Big words to explain that my digestive system doesn't work properly. So, imagine the food journey - you put a piece of food in your mouth. You swallow it, and strong muscular contractions (called peristalsis) move it down your oesophagus and into your stomach. Once in your stomach, it's churned around and around with a mixture of acid and enzymes, continuing the work that was started in your mouth. Once it's ready, your stomach will contract forcefully and efficiently to move the food into your small intestine. Peristalsis moves the food through metres and metres of small intestine, then large intestine, and once your body has absorbed everything useful, the indigestible parts make their exit. For most people, this is a totally automatic and unconscious process.
But guess what? There's collagen in your digestive tract. Peristalsis relies on a certain amount of strength in the intestinal walls to push the food along. Because my collagen is stretchy, my digestive system struggles to move things along. Food can stick in my throat (for the entire 3 hours of one test that I had, though it doesn't cause bothersome symptoms for me), then sits in my stomach for 12-36 hours (most people's stomachs empty 90% within 4 hours). If the food doesn't come back up again (sorry), it can then take another week or so to travel through the rest of the digestive system. This, obviously, is slow and inefficient. It causes problems with absorption of medications, food and fluids. It also causes symptoms such as nausea, vomiting, bloating and pain.
I have a feeding tube (called a J-tube or jejunostomy) that goes into my small intestine, bypassing my stomach, which provides a constant trickle of a liquid formula. It smells like cat food, but my dietician assures me that it's good for me. Unfortunately, even with the J-tube, I can't take in or absorb enough fluids, or absorb some of the medications I need, so I also have a permanent IV line - one end sits in a big vein just above my heart and the other end sticks out of my chest, where it splits into two lumens.
The autonomic nervous system (ANS) is the part of the nervous system that controls the unconscious/automatic functions. Like heart rate, blood pressure, temperature regulation (including shivering and sweating), and pupil size. People are affected differently when the ANS goes haywire. The symptoms that I have include:
- Inappropriate heart rate (very fast or very slow)
- Heart rhythm disturbances
- Blood pressure that is very high or very low (often low when I've been standing and all the blood collects in my feet)
- Difficulty responding to changes in temperature - I can be quite inappropriately hot or cold (wearing ten jumpers and shivering under a blanket when it's 30C and everyone else is quietly boiling to death), have wild fluctuations in temperature, and when I'm tired my core body temperature is unpredictable, ranging from low-grade fevers to hypothermia
- Blurred vision (again, much worse when I'm tired)
Autonomic dysfunction is a weird one. It is easy enough to see the effects on a cardiac monitor or when my feet go purple, my face goes pale and I slump gracelessly to the floor. But it's very hard to explain in 'real life'. Many of the symptoms are invisible (actually, that's true for lots of my symptoms - nausea, pain, dizziness) and I tend to swing between feeling that I have to explain myself and defend my need to rest (or to lie down horizontally with my feet in the air, explain why I can't read, why I need a seat on the bus, etc.) or to do entirely the opposite and try to hide it, pretending that I don't even notice a heart rate of 150 beats/minute.
Like normal asthma but crazy. Brittle asthma is difficult to control with medications and can go from 'normal' to 'bad enough to end up in Intensive Care on a ventilator' in minutes. It's been better controlled since having the tubes and lines (probably because I'm now getting the medication that I need and absorbing it!) but I still spend a lot of time in hospital and don't leave the house without adrenaline injections, nebulisers and steroids 'just in case'. Everyone knows at least one person with asthma - it's so common, and it can be hard to explain to people (including doctors and nurses) that this is not your average common-or-garden asthma. I've been in Intensive Care more times than I can count in the last 20 years, and last year I spent about 4 months in hospital, in total, because of asthma. It's tedious.
of my illnesses, I spend a lot of time in hospital and at outpatient
appointments. I have a team of 11 medical specialists that I see regularly at 3 different hospitals. I call them my 'Dream Team'.