The Diagnosis

“Eh-what?” is usually the response I receive when telling someone the name of my condition. Ehler's Danlos syndrome (EDS) is a group of heritable connective tissue disorders of which there are 4 subtypes. With the hypermobility type, collagen in the connective tissue is faulty, resulting in impaired structural support throughout the body.

Joint hypermobility is seen as a wide spectrum. At one end, you have people who are just extremely flexible, probably showcasing a weird party trick on occasion or classing themselves as ‘double-jointed'. However, they will typically experience no pain or symptoms to complain about. At the other end of the spectrum, it causes a multitude of problems: mainly debilitating musculoskeletal pain and frequent dislocations.

More people are familiar with the condition fibromyalgia due to how common it is. It is characterised by widespread pain and tenderness in multiple locations throughout the body as well as extreme fatigue. A diagnosis of fibromyalgia is usually made when a patient meets certain criteria and through a process of elimination. Due to the lack of diagnostic testing, a clinical decision is made once all other possibilities have been excluded. Some of these include rheumatoid arthritis, lupus and multiple sclerosis.

The exact cause of fibromyalgia is unknown but is believed to be triggered by a traumatic event - either physical or emotional. Surprisingly, my symptoms were not sparked by the emotional turmoil experienced while watching Toy Story 3. Instead, I suffered a pretty nasty lower spine injury when playing football at the age of 16.

After being stretchered off the pitch (much to my embarrassment at the time), I was later taken to hospital where the doctors performed scans and prescribed painkillers. My coccyx (very bottom of the spine) had actually moved position from the impact of the fall, and my sacrum, lumbar and pelvis were, medically speaking, all over the place. I remember being told by a doctor that it would have been better in terms of healing if I had actually fractured my spine! Cue the “I would’ve made it pro if it wasn’t for my injury” claim you hear from 80% of guys...

After months of physiotherapy and attempting to play again, I frustratingly had to hang up my boots and say goodbye to playing my favourite sport. Throughout my time playing football, I barely made it through an entire season without picking up an injury. From torn hamstrings, quadriceps, adductors and groins, I had seen my fair share of physiotherapists. Unbeknown to anyone at the time, I was more susceptible to injury due to my underlying connective tissue disorder. This is because my body relied heavily on the muscles for support due to the lack of support from the faulty connective tissue. All of my muscles were therefore under more stress and so the slightest overstrain was causing the muscle to tear. It also took longer than average for my injuries to heal.

What started off as a ‘sore back’ quickly escalated, and part by part, more of my body began experiencing severe pain. I recall feeling like my body was failing me and falling apart. I struggled to concentrate at school and work, and felt like a wave of fatigue had hit me at various points throughout the day. In my late teens, the pain became unbearable and would frequently reduce me to tears. The type of pain also varied, from dull muscle aches to numbing nerve pain, nauseating bone pain and sharp muscle spasms. The spasms would be so severe that it would feel like I had been stabbed, causing me to be doubled over, yelling out in agony. I used to find this absolutely mortifying as it would understandably draw the attention of concerned colleagues in the office, but I couldn’t help it. This could happen up to 20 times a day when my condition was at its worst. The spasms would also occur in the muscles between my ribs and breastbone. This was called costochondritis which makes it excruciating to inhale and has been mistaken by people in the past as having a heart attack. For years, there was never a moment where I was not in pain.

On ‘good days’, I had flu-like symptoms: lethargic and aching, but could get on with what needed to be done. On ‘bad days’, it felt as though hot, rusty needles were being twisted through my joints and muscles. It was normal for me to experience hyperalgesia day to day which is a heightened response to pain. However, during flare ups, I would also suffer from allodynia which is an extreme sensitivity to touch and results in pain from things that should not provoke it. For example, light touch and even clothes on my skin could be excruciating.

I became so used to being in pain, that I once never even recognised that my shoulder had dislocated. I only experienced full dislocations occasionally; more often it would be subluxations where the bone partially detaches from the socket. The majority of these were in my shoulders which would slip out of place in my sleep. However, this also occurred in my knees and hip joints.

A plethora of secondary conditions also kindly accompanied the widespread pain. Gastrointestinal problems are common comorbidities with EDS, and I suffered from IBS caused by years of tramadol usage. I also bruised very easily and always had poor circulation to my extremities, not realising until recently reading an old doctor’s report that this was confirmed as Raynaud's syndrome. This circulatory disorder causes reduced blood flow mainly to the fingers and toes, resulting in cold skin, numbness and light colour changes.

The impaired structural support around blood vessels also resulted in suffering from orthostatic/postural hypotension. I’m sure everyone has experienced a ‘head rush' when standing up too quickly. This would happen to me regularly going from a lying down to sitting position, or from sitting to standing. The drop in blood pressure and reduced blood flow to my brain also caused me to black out and fall on a couple of occasions.

As well as a lot of physical symptoms, there were of course many psychological effects as a result of living like this. However, I feel like the mental health struggles deserves a full blog post of its own, so I will elaborate on this in due course.

When my pain had gone beyond “just a sore back”, I was frequently attending my GP surgery, questioning what was happening to me. I was like a pin cushion at one point with the number of blood tests they were carrying out, so I had to give myself a pep talk and swiftly get over my fear of needles. Everything they tested for came back within normal reference ranges. As relieving as this was (as I was obviously not wanting to be diagnosed with something serious), I remember feeling extremely disheartened and frustrated. I was unable to understand how everything could appear normal when I was in this much agony.

I logged several food diaries in an attempt to establish a pattern for what was causing my pain to worsen. I think the GP was hopeful that there was some sort of food intolerance wreaking havoc on my body. If only it was that easy! After weeks of me insisting there was no dietary correlation, I showed the doctors my food diary and they finally agreed.

MRI scans showed a slight scoliosis (curvature of the spine) and misalignment, but nothing that would be causing the level of my symptoms. Once everything else had been ruled out and after years of debilitating pain, I had a private consultation with a rheumatologist who diagnosed me with joint hypermobility and fibromyalgia. I appreciate not everyone is in a fortunate enough position to receive private healthcare, but luckily I was covered under my mum’s health insurance through her employer.

When I was 22, my symptoms and quality of life had somewhat improved, but I was still struggling and requiring a lot of medication. In the previous year, I had attended a residential pain management programme in Bath which I will talk about in a separate post. Following this, I felt like doctors had just brushed me off since I had already seen some of the best specialists in the country. Feeling dissatisfied with my current level of care, I requested some form of monitoring and management, and so my GP referred me back to a rheumatologist.

From reviewing my clinical details and medical history, the rheumatologist quickly wrote back to my GP stating that he believed I may have EDS and should be referred to a geneticist. Although EDS is classified as a genetic condition, the gene responsible for hypermobile EDS has not yet been identified. This means there is not currently a single genetic test that can be performed to confirm the diagnosis. The possibility of me having EDS was dismissed at an earlier stage because I never presented with the classical stretchy skin. There was, and still is, a massive lack of knowledge and awareness about this condition, and it was very poorly understood. Nevertheless, after one consultation, the geneticist confirmed that in her professional opinion, I had hypermobile EDS.

It is believed that I have always had this condition underlying; essentially dormant. However, the physical trauma on my spine from the injury I sustained in 2010 triggered the onset of the condition. I was battling for years for a diagnosis, which is very common for people with chronic pain conditions. When you don’t have a diagnosis, it can be difficult to be taken seriously. Even though your symptoms haven’t changed, having this little label can benefit people psychologically as you now know what you’re dealing with. You can therefore begin to manage your condition more effectively.

On the other hand, I have had experience of some people using a similar diagnosis almost as an excuse. They settled for a life within the confines of what somebody else had set out for them. It is just accepted by some people that this is them for the rest of their life, and they don’t ever try to challenge that. If you’re reading this and the last sentence sounds familiar to you, have you ever considered challenging it? You never know how much greater your life might turn out to be.

Thank you for reading.

Much love, Kirsten xo