Ehlers-Danlos Syndrome is actually the name for a group of genetic connective tissue disorders, which are generally characterised by joint hypermobility, skin hyper extensibility and generalised tissue fragility. Despite these widespread commonalities, no two EDS sufferers are the same, and the disorder affects individuals with a wide spectrum of symptom presence and severity.
EDS has thirteen subtypes, of which I have the hypermobility variant. I was diagnosed in June of 2018, after a sudden and rapid decline in my overall health. Prior to the October 2017, hypermobility was my only major symptom, and thus I was considered to have the more benign condition, Joint Hypermobility Syndrome. It was not until I began to have multi-systemic issues that EDS was first suggested, and after consultation with a rheumatologist I was clinically diagnosed with the hypermobility EDS subtype.
As mentioned before, EDS has given me hypermobile joints- the result of excessive laxity in the surrounding connective tissues allowing for an abnormally increased range of movement. This causes them to sublux or dislocate with varying frequency, often accompanied by acute pain depending on the overall condition of the individual joint. This joint instability also causes chronic pain in not only the injured joints, but also in the other joints which become strained by overcompensation for my injuries.
My most commonly dislocated joints are my right shoulder, and right knee, however I have started developing chronic pain and subluxations in my right hip after an acute dislocation in June. My hands are now also becoming affected, where due to hyperextension of the PIP joints in my fingers I am unable to type or write with a pen for extensive periods of time. In addition, within the last year it has become evident that my skin is unusually fragile- I would wake to find large and painful unexplained bruises, and even where I did know the cause, they were extremely disproportionate to any injury or trauma.
Gastroparesis is a condition, often comorbid with EDS, which affects the stomach’s motility. Ordinarily, the stomach empties itself through a series of contractions, but in gastroparesis, this movement is impaired or nonexistent. This results in delayed gastric emptying, and not only causes often debilitating nausea and vomiting, but also effects blood sugar levels and may lead to malnutrition. The gold standard diagnostic test is a gastric emptying study, where more than 10% of the gastric contents are left after four hours. Gastroparesis may be treated with medications to encourage motility and minimise nausea, and should these prove insufficient there are more intensive surgical treatments available. For patients who are suffering from malnutrition, enteral nutritional support via a feeding tube may also be necessary, either short-term during a flare-up, or more permanently should other treatments fail. For two weeks in August I had a feeding tube placed as I had lost 17% of my body weight in 6 weeks and was at risk for malnutrition. I am finally able to nourish and hydrate myself independently, thanks to domperidone. This medication has been a literal life saver and I am so incredibly grateful for each and every single morsel which I am able to consume, even though I’m still on a mostly liquid diet. Although I may never be able to eat a totally conventional diet, I am working intensely with a dietitian to try and get me as close as possible.
Fibromyalgia is a chronic pain condition characterised by widespread pain in the musculoskeletal system. Research suggests that it is caused by an increase of certain neurotransmitters, as well as changes sensory receptors. This alters the processing of sensation and amplifies pain signals. A person may be more likely to develop fibromyalgia if they have a connective tissue disease. Personally, fibromyalgia causes me disordered sleep, as well as severe pain without any discernible physical catalyst. It also causes me cognitive difficulties, known as “brain fog”, where the overstimulation of certain areas of the brain and chronic fatigue make it difficult to focus on and process information, concentrate, and complete mental tasks.
Endometriosis is a condition which affects 1 in 10 women, and yet is woefully underfunded and often misunderstood. Endometrial tissue grows in other parts of the body, such as the abdominal cavity and on organs such as the bladder and bowel, which can cause debilitating chronic pain, as well as interfere with the menstrual cycle and fertility. Treatments include hormonal treatment, such as the contraceptive pill or Mirena IUD, and laparoscopic surgery and excision. I am so fortunate that in May of this year I had surgery which successfully removed endometrial tissue from my abdominal wall, and I have yet to see any symptoms return.
Asthma is a lung condition, where individuals have sensitive airways which react to triggers. During this ‘flare-up’ muscles around the airway contract, the airways swell and narrow, and there is more mucus – making it harder to breathe. Sudden onset of this is known as an asthma attack. One in nine Australians has asthma, there is no cure, but it can be well controlled with a daily management plan. I have dealt with this condition since I was sixteen, and currently manage it by taking preventative medication and wearing a filtered mask when the air quality is poor.