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Disclaimer- in this blog I talk about the symptoms I personally suffer with as a result of my Ehlers-Danlos syndrome (EDS for short) there are many others, some other EDSers will experience the same others will not, we are all totally different and affected differently.
Ehlers-Danlos syndrome is a group of heritable disorders of the connective tissue in our bodies. There is also many types of EDS, all varying in severity and with different characteristics. Connective tissues provide the support for our skin, ligaments, muscles, blood vessels and internal organs.
The type I suffer with is type 3- Hypermobility EDS.
Symptoms can include:
- Joint hypermobility- meaning that the joints hyperextend and have a wider range of movement than you’d see in a normal healthy person (although it is possible to be hypermobile and not have EDS).
- Lax and unstable joints that are prone to dislocations and subluxations (partial dislocations).
- Chronic pain
- Chronic fatigue and exhaustion
- Very easy (and also very dramatic!) bruising
- Gastrointestinal problems such as dysphagia (trouble swallowing), gastroparesis (delayed stomach emptying), gastric dysmotility (when the muscles in the stomach, oesophagus and/or intestines do not work as they should).
- Prolapses of the uterus, bladder and rectum due to muscle laxity
- Urinary dysfunction.
- Postural Orthostatic Tachycardia Syndrome (POTS) a condition that causes an abnormal rise in heart rate upon standing from a lying/sitting position, symptoms include dizziness, palpitations, fainting etc.
- Mitral Valve Prolapse (MVP) a heart valve abnormality.
- Varicose veins
- Stretchy skin that is prone to tearing.
- Temperomandibular joint disorder.
- Skeletal issues such as scoliosis of the spine.
- Cervico-cranial instability.
- Increased dental issues such as decay, pulpitis and mouth ulcers.
- Resistance to local anaesthetic.
- Difficulty healing from wounds and surgery.
EDS is a genetic condition of autosomal dominance meaning that I have 50% chance of passing EDS on to any children I have.
I started experiencing symptoms of my EDS when I was a baby, at the age of 1 I could not sit up unaided, could not walk properly until I was 3 and I used to sit in my pushchair with my legs in the splits. I suffered a lot with “growing pains”- I did a lot of growing, at 11 years old I was 5 foot tall and I am now 5 foot 9 inches, which is actually quite short in my family- I was also very clumsy.
It wasn’t until I was around 14 that I started having real problems, I began suffering with heavy periods and gastrointestinal problems, as well as fainting, weight loss and tiredness. It was always put down to IBS but any medication they would prescribe me wasn’t enough to alleviate my symptoms, I’d often be labelled “attention seeking” by health professionals, friends and family and this had a massive impact on my self esteem, I carried on regardless, and when I was 19 I encountered even more problems.
I had just left college with the highest grade, and from the age of 16 I cut out gluten, egg and dairy from my diet as I was convinced I was intolerant to them and my symptoms did appear to be less, but thinking about it now, my symptoms were probably less as my diet was so restricted and I always ate the same things. I began suffering with horrendous joint pain and fatigue, I struggled swallowing foods and my body wasn’t digesting food as well as it should be. Again my doctor at the time called me attention seeking, so I moved to another GP surgery in my town, it was then my new doctor asked about my family history, what other members of my family suffered with and I had mentioned that some members of my family suffered with EDS, he then referred me to a Clinical Geneticist in Bristol.
At my geneticist appointment on the 28th October 2014, the consultant asked me about my families medical history, asking me about my symptoms and how long I had had them, what my development was like when I was younger and any other problems I felt I needed to discuss.
She then gave me a physical examination, looking at my skin and scarring, she also gave me a Beighton assessment which involves assessing the hyperextensivity 9is that even a word?!) of the joints, which is marked out of 9 and patients with a score higher than 4 are then diagnosed with EDS. A physician such as Rheumatologist/Paediatrician/Geneticist etc are able to diagnose Hypermobility EDS. A CG can also advise you on any further help you can get for your condition, at the time of my appointment I was still suffering with gastro problems and so she was able to refer me to Professor Qasim Aziz at the Royal London Hospital, he is a world-renown Gastroenterologist who specializes in patients with EDS, I felt quite privileged to be seen and treated by him and his team as his waiting lists (both private and NHS) are extremely lengthy but I managed to see him within 3 months.
I was under his care for 18 months, I had many tests done under his team that aren’t widely offered in the NHS but he diagnosed me with Mast Cell Activation Disorder which was attacking my digestive system and I now take a very high dose of anti-histamines daily to prevent my body from attacking itself.
The treatment for EDS is symptomatic, there is no cure at the moment, it is a very misunderstood condition and quite often when I mention it to a doctor they first look at me with a confused face, before quickly asking how to spell it! Treatments such as physiotherapy, hydrotherapy, painkillers, dietary changes, bracing and supporting loose joints to prevent injury, beta-blockers, anti-sickness medications and home improvements by occupational therapists such as railings, ramps, stair lifts, hospital beds, walk in showers/wet rooms etc can really help with the problems we face as a result of our EDS.
But by far the biggest problem we face is ignorance towards our condition and being judged, some days we can do everyday things such as go food shopping or work unaided, but we may find the next day we require the use of crutches or a wheelchair to take the pressure off of our aching, unstable joints, one day we may appear to be completely normal but the next we may have to wear a big bulky knee brace because our kneecap subluxed the night before. Everyone you come across in life is fighting a big secret battle, so please do not judge us for fighting ours.
Bloody hell, that was a big blog for me! 1000 words? Christ on a bike!
I hope you enjoyed this blog and learnt a little more about me, and 1 in 5000 of others!
Take care, stay fabulous!
Abbie Autopsy xo