I thought it was about time I explained a bit more about my condition and how it affects me. I have a condition called Ehlers Danlos Syndrome (EDS). EDS is a rare inherited condition that affects connective tissue. Connective tissue provides support in skin, tendons, ligaments, blood vessels, internal organs and bones. This means EDS has a wide-ranging impact on your whole body.
I was born with EDS but I never knew about it. Due to my background, I had never been to a doctor growing up and so it wasn’t until I snapped the tendons in my ankles by just getting off a trampoline when I was 19, did I even suspect anything was wrong. Simply stepping off a trampoline led to me being unable to bear weight through my ankles, as they would collapse inwards and leave me in huge amounts of pain. MRI scans revealed that I had old unhealed fractures of both ankles from many years ago and that the tendons had stretched to breaking point. Three surgeries later and with no improvement at the age of 19 I became a full-time wheelchair user. Not only did I struggle to walk, I had to cope with increasingly common dislocations and subluxations.
As I grew up my condition continued to deteriorate. What started out as primarily affecting my joints started to cause significant digestive problems, dizziness and increased heart rate, problems with my internal organs and problems with my bladder and bowel system. I was eventually diagnosed with the following associated conditions: Postural Orthostatic Tachycardia Syndrome (POTS), Mast Cell Activation Syndrome (MCAS), Intestinal Failure and Urinary retention. Each of these conditions affect my daily life massively, but the interaction of all of them mean I live on a shorter timeline than most.
I have tried to explain a little bit more about each one below to provide a little insight into what its like being in my body.
Postural Orthostatic Tachycardia Syndrome (POTS)
POTS is a condition where your heart rate increases very quickly after getting up from sitting or lying down. This causes you to feel dizzy and lightheaded. In my case my POTS means that I regularly faint. It also often leaves me short of breath, shaking and sweating, with blurred and tunnel vision and with extreme fatigue.
On average, I usually end up having a near fainting or actual fainting episode at least once a day. For me it’s worse when I’m tired and is massively affected by my oral intake. Although, I can usually predict an episode it can be very random, and I tend to only get a very short warning period. This is where Phoebe helps, she is a medical alert dog and so is trained to detects changes in my scent that occur before an episode happens, giving me up to a 20min warning. Her warning allows me to get into a safe position as the main struggle I have with fainting is falling over and banging my head.
I can do things to manage my POTS; I use compression clothing that help regulate my blood pressure, I am careful of how and when I stand up and I increase my salt intake.
Mast Cell Activation Syndrome (MCAS)
MCAS is a condition that occurs when mast cells release too many chemicals into the body. This causes the symptoms associated with an allergic reaction; itching, swelling, rashes and inflammation. Unlike allergic reactions were the same trigger causes the response, MCAS episodes can happen without any clear trigger. This makes diagnosing and managing the condition difficult.
For me, I always have low level reactions daily to common things such as artificial scents, detergents and smoke. To manage this, I take high dose antihistamines daily to help keep my mast cells under control. I tend to have larger and more random responses to food. I stick to a set of safe foods, but there is no guarantee these foods stay safe. Something I’m not allergic to one day I can become allergic to the next.
Gastroparesis/Intestinal Failure
I have always struggled with food ever since being a little kid. I have never been able to eat a lot without being sick and have generally been underweight. Around the time I turned 20 I started struggling more and was eventually diagnosed with gastroparesis. Gastroparesis is a condition that affects the stomach muscles, preventing them from moving food properly for digestion. As I’ve got older this has got worse and over the past 5 years, I have become increasingly reliant on artificial nutrition. Initially I used a feeding tube that went into my stomach but that eventually stopped working. I then moved onto a feeding tube that went into my small intestine hopefully skipping the issues in my stomach. This helped but wasn’t very effective and I continued to lose weight and become increasingly malnourished.
In 2022 my nutrition reached crisis point. I was unable to tolerate anything orally and even with the feeding tube into my small intestine I was still vomiting multiple times a day. I was admitted to hospital with acute kidney failure from dehydration and severe malnourishment. After a lot of tests and a long time in hospital I was diagnosed with Intestinal Failure. I was eventually moved to a specialist unit, and the decision was made to start Total Parenteral Nutrition (TPN).
TPN is a treatment that delivers nutrients directly into the blood stream through a central venous catheter. Although TPN has saved my life and given me back energy, it also came with serious complications. Since starting TPN I have suffered with frequent infections that have got into my blood stream and turned septic, receiving the feed directly into my blood upset the functioning of my liver and made my blood sugars hard to control and the line placements to receive the TPN became increasingly complex and risky. There is no cure or solution for intestinal failure it is just a case of managing as best you can, often using multiple approaches.
Urinary Retention
I have always suffered with bladder issues. As a kid I was a bed wetter for a long time and never really grew out of it. I always described myself as having the bladder of a squirrel. I never knew when I needed the loo and would only realise essentially when it was too late.
In 2020 after another hospital procedure, I went into urinary retention. I was unable to go to the loo and so I had a catheter placed. Despite multiple attempts to remove it, I never recovered and have had increasing issues with my bladder ever since. I was eventually diagnosed with Urinary retention. I now have a Suprapubic Catheter (SPC) that allows me to empty my bladder. I still however have recurrent issues with infections and bypass that affect me daily. As I have no sensation of when I need the loo, I must empty my SPC on a schedule. This mostly works but can often lead to me being caught out if I forget or if my bladder is just being annoying. The bit I struggle with the most is the bladder spasms and although I’m on medication to reduce them they still hurt.
Beriberi Syndrome
In March 2022, after a period of being unwell, I was taken to hospital. I collapsed in the emergency room, unconscious and unresponsive. Being totally reliant on TPN and not taking anything orally the doctors were unsure what was going on. I had low blood pressure and an exceedingly low heart rate. When they did an echocardiogram, my heart valves weren’t pumping the blood around my body effectively. My heart had a 40% working ejection fraction with a normal range being between 50%-70%. I was in full heart failure.
After being transferred to a specialist until in London they managed to figure out that my body had not been absorbing any vitamins and minerals through my TPN leading me to not have enough thiamine in my body. I was diagnosed with an incredibly rare condition called Beriberi Syndrome. This is where my low levels of thiamine affect the cardiovascular system and in severe cases can lead to heart failure.
Thankfully I recovered but having been unwell for so long left permanent damage to my heart that I now must live with. I also must keep a very close eye on my thiamine levels to ensure they don’t drop too low again or risk further permanent heat damage.