Disability: What’s EDS

I have a rare genetic condition called Ehlers-Danlos Syndrome. It’s largely an invisible disability, but it has a huge impact on my life, contributes to who I am and affects my gaming style, choices and abilities.

Ehlers-Danlos Syndrome is a motley group of heritable connective tissue disorders (HCTD) caused by a variety of gene mutations that impair the structure and function of collagen. Collagen is the main component of connective tissue and the most common protein in the body. It accounts for “approximately 6% of total body weight” (Seeley 1998). It is very strong, flexible and have a microscopic rope-like appearance. Its main function is to provide strength and structural support throughout the body. The gene mutations in those with EDS are varied and not all have been identified as yet and the signs and symptoms of the disorder may vary depending on which types of collagen is affected and how. Like most people with EDS, mine does not neatly fit into a box. I have mainly the hypermobility type (also the most common type) with overlapping features of the classical typel and a family history with vascular complications usually seen in the vascular type. It makes for an interesting collection of quirkiness that affects just about every part of my body. Here’s how:

Neurological/Neurocardiovascular

  • Peripheral Neuropathy: I have mild peripheral neuropathy that affects my feet and lower legs, probably caused by a combination of recurrent injuries, splints that don’t fit well and cause pressure on the nerve which in turn causes damage, left-over remnant of chronic kidney disease that’s now in remission, poor circulation caused by spasming bloodvessels, which in turn is caused by stretchy collagen. Symptoms of this are tingling, buzzing, electrical shock-like sensations, partial numbness, chronic pain and some muscle weakness and wasting.
  • Recurrent Neurapraxia: Temporary injury to a nerve caused by repeated or prolonged compression on the nerve leading to ischemia (lack of blood flow to the area). The actual structure of the nerve remains intact, there’s just a temporary disruption in the conduction which resolves fully in days to weeks (full remission usually6-8 weeks) post-injury. Dislocations/recurrent subluxations can compress a nerve sometimes leading to pain, numbness, tingling and burning sensations in the affected area.

Neuromusculoskeletal:

  • Dislocations: Those with EDS suffer from recurrent dislocations with minimal or no trauma. My dislocations are injury related, usually caused by falls. They’re slightly less painful and traumatic than what you’d expect from dislocating a joint, mostly because the surrounding tissue sustains less damage. Healthy individuals dislocate joints during trauma, car accident, impact sports, falling off a bicycle and sustain secondary damage as a result. EDS-related dislocations mostly occur tripping over your own feet, stepping off the curb incorrectly, loosing your balance getting out of bed, walking into a door frame or table and falling and as the force applied are much less, the damage caused is much less. Also, tissue stretches in bendies rather than tearing so that a joint can dislocate with minimal damage to the surrounding tissue.
  • Subluxations (partial dislocations): Subluxations (partial dislocation) occur spontaneously or with minimal trauma.  EDS joints are hypermobile, which causes chronic instability that is often painful and damage tend to accumulate. When moving, tissue stretches a little bit more in those with EDS, allowing small movements of bone within joints, so small its usually invisible to the eye, but the chronic pain associated with bones that slide around is significant. Minor subluxations occur dozens of times a day and the more serious ones multiple times a week.
  • Impaired proprioception: Proprioception is the unconscious perception of movement and spatial orientation, it’s that internal sense of knowing where each part of the body is without looking at it. It’s permanently impaired in those with EDS causing problems with balance, muscle memory and hand-eye-coordination. I can’t walk well in the dark because I don’t know where I am unless I can see objects around me. I have to do many things consciously that other people do subconsciously. I have to look at my keyboard when I type and my feet when I walk and even when I do, I still have difficulty approximating distance, not knowing exactly where the floor is. I’m clumsy and my coordination leaves much to be desired. I work really hard at improving proprioception, it’s part skill just like knowing how to ride a bike and part practice, just like being trained to run a marathon and part genetic predisposition. Two out of three leave room for improvement even if the third impose a very solid ceiling.
  • Muscular Hypotonia: Associated with classical EDS and mild in my case. Low muscle tone causes impaired motor skills, poor reflexes, decreased strength and endurance and is associated with developmental delay. Its one of those things  that doesn’t prevent activity, but simply makes activities like walking, talking, sitting up straight, chewing, talking and writing hard work. Fatigue is the most obvious consequence and my reflexes are sluggish so that my reaction times are noticeably delayed. I have a tendency to slump, round my shoulders, lean on everything as support and struggle to stand and sit up straight. It also seem to affect how my joints dislocate; my muscles take over the work of my ligaments and when my muscles fatigue and then quickly fail, joints tend to move out of place rather suddenly.
  • Injuries, common conditions and complications: Strains, sprains, microscopic tears, ruptures, nerve/vascular compression, head injuries, stress fractures and a hundred other common injuries occur more readily in those with EDS. It’s not too bad if it affects just one joint in one way at any given time, but for those with EDS, multiple conditions tend to be present in multiple joints and have a habit of being recurrent/chronic. Also, injuries take longer to heal and readily develop complications. My list includes the following and then some more that I cant’ be bothered to try and recall: Feet and Ankles: Chronic plantar fasciitis, Pes planus, Achilles Tendon Enthesopathy, Achilles tendinitis, Achilles bursitis, Achilles tendon partial/complete tear, recurrent ligamentous sprains, medial plantar nerve entrapment, metatarsal stress fracture, bilateral posterior tibial tendon dysfunction. Knee: Condromalacia Patellae (anterior knee pain), Tibial stress fractures, tibial torsion, suprapatellar bursitis, meniscal tears, fat pad inflammation, patellofemoral syndrome (runner’s knee), ‘shin splints’ and growing pains in childhood, knee sprains, quadriceps tendon partial tears, Osgood-Schlatter Disease, ACL & PCL injuries, Baker’s Cyst. Hips and back:Chronic back pain, lumbar spondylolysis and spondylolisthesis, labral tears, hip bursitis, snapping hip, sacroiliitis, lumbar facet joint syndrome, radiculopathy, piriformis syndrome, sciatica, cervical spondylosis.Shoulder, ribs & SCJ: costochondritis, ‘Seperated shoulder’, Type I and II acromioclavicular joint injuries, acromioclavicular joint sprains, shoulder bursitis, rotator cuff  and bicipital tendonitis, adhesive capsulitis (frozen shoulder). Head and Jaw: Temperomandibular joint disorder (TMD), concussion, mild traumatic brain injury, moderate traumatic brain injury. Elbow: cubital tunnel syndrome (bilateral), lateral epicondylitis (Tennis elbow), bursitis. Wrist: Carpal Tunnel Syndrome (bilateral), recurrent ligamentous sprain, digital tendinitis, bilateral swan neck neformities, proximal interphalangeal joint sprains.

Skin

  • Soft, velvety, fragile skin: I do appreciate the positive aspects of having smooth and soft skin. The type of skin most people have on their eyelids are the type of skin I have everywhere. The negative side is that soft, smooth skin is also fragile and delicate. Pulling a plaster off quickly pulls off a layer of skin. My skin is prone to split, tear, blister, ulcerate, chafe and itch. Sunburn happens easily and excessively and so does rashes, scarring and stretch marks.
  • Easy bruising: I’m always covered in bruises and always have been. I used to think ‘how did that happen’ until my rheumatologist suggested that I bruise spontaneously and so nothing happened and then it seemed rather obvious. I often have Chris’ fingers edged into my skin where he grabbed me as I was about to fall over or where he applied pressure to relocate a joint. The falling over and bumping into things doesn’t help either. Spontaneous bruising can be a disconcerting symptom, but although unsightly, it’s quite harmless.
  • Delayed wound healing: It takes on average 4-6 times longer for me to heal than the average person, if I heal at all. I have or have had cuts, ulcers or other wounds just don’t heal at all. Stitches simply tear out and combined with prolonged bleeding makes for interesting trips to A&E when I’m hurt.
  • Widened atrophic scars: Every cat scratch leaves a permanent wide scar. I’m covered in silver lines and more serious injuries have left atrophic scars, i.e. cigarette paper scars. Some fade over months and years whilst others are very permanent.
  • Early onset varicose veins: A common problem in my family which have lead to superficial thrombophlebitis and deep vein thrombosis. I wear graduated compression stockings  to reduce swelling and increase micro-circulation.

Tissue fragility

  • Prolonged bleeding despite normal coagulation status: Characterised by menometrorrhagia, menorrhagia, nosebleeds and other fun stuff;  “clinically mimics von Willebrand disease, but von Willebrand factor, platelet number and function, and coagulation factor studies are almost always normal*” Mostly it’s an annoyance, a papercut can bleed for an hour, but it also increases the risk of excessive bleeding (hemorrhage) when undergoing surgery or suffering serious injuries or less serious, like getting a nosebleed.
  • Hernias and prolapses: Structures and organs in the body are usually surrounded by muscle tissue or a membrane layer. A hernia is when a part of the structure or organ protrudes through the structure that normally contains it. I haven’t had any serious complaints, althoughdiaphragmatic hernias is a recurrent issue. A prolapse is a condition where structures or organs slip out of place because the surrounding tissue weakens and no longer keep it in the position its suppose to be. Again, it’s not something that I’ve had much experience of. I have mitral valve prolapse, a condition in which the mitral valve slips into the left atrium during contraction of the heart chambers allowing some regurgitation.
  • Vascular complications**:  Lucky for me, I’ve not had any vascular complications and hopefully never will, but have a higher than normal risk of suffering from arterial rupture, intestinal rupture, uterine rupture during pregnancy, rarely organ rupture (heart – ventricular rupture, spleen, liver), aortic dilation, dissection of major arteries,  stroke, intracranial aneurysmal rupture, spontaneous carotid-cavernous sinus fistula, cervical artery aneurysm, gastrointestinal perforation or rupture due to a family history of the above.

Digestive

Respiratory

  • Asthma: Breathing problems in EDS is thought to be a result of connective tissue fragility in the lungs. I was initially diagnosed withbrittle asthma type 2 and I was mostly symptom-free except during the occasional infrequent but life-threatening attack that in the extreme may require an adrenaline injection, or in severe cases, mechanical ventilation to get me breathing again. Living in the UK has had a profound effect on my breathing as the wet, humid climate is not conducive to good lung function. I now require daily medication and severe attacks have increased in frequency.
  • Allergies: Various allergy type conditions are strongly associated with EDS. I have hay fever and  perennial rhinitis with pollen, dust and pet dander being the biggest culprits to cause severe symptoms. We do have a short-hair indoor cat, but I’m more allergic to dust than dander and so my allergy symptoms are pretty much the same with or without a pet in the house. I have the usual medical sensitivity to aspirin and non-steroidal anti-inflammatory drugs and a completely unrelated allergy to oranges and closely related fruits (nectarines, tangerines etc)

Vision & Hearing

  • Hearing: The bones in the inner ear can also be hypermobile, which they are in my case, leading to some hearing loss. For reasons not yet established, tinnitus and hyperacousis is associated with EDS and quite pronounced, permanent and untreatable in my case. I also have auditory processing disorder.

Sleep

  • Sleep disturbances are common in EDS. Chronic pain often disrupts sleep and dislocations/subluxations may occur regularly during the night. I have issues falling asleep. I dislocate joints turning over in bed and either have dreams about being stuck in A&E or it wakes me up throughout the night and then I can’t get back to sleep afterwards. Migraine headaches often start in the early morning hours. Various sleep disorders is associated with EDS and I’ve been rather lucky on missing out on those except for a few problems created by nocturnal myoclonus/periodic limb movement disorder and restless leg syndrome (RLS).

Pregnancy complications

Pregnancy complications with the hypermobility type of EDS is troublesome, but tolerable – increased hypermobility as a result of hormonal changes lead to increased subluxations, dislocations, pain and joint instability; digestive problems worsen due to the additional pressure and astmha has a 50/50 change to either improve or worsen. More bothersome is that local anaesthesia is ineffective or efficacy vastly reduced, causing some problems with epidurals. The vascular type of EDS have some serious associated risks:

  • Increased risk of miscarriage
  • Premature rupture of the membranes
  • Birth: 12% of neonates with the vascular type of EDS have clubfoot and three percent have dislocation of the hips
  • Severe intra-operative haemorrhage (arterial) during a caesarean
  • Vaginal tears and abnormal bleeding with vaginal delivery
  • Risk of hemorrhage and rupture drastically increased during pregnancy and up to six weeks after birth
  • Maternal mortality in vascular type EDS is as high as 25%, with a 12% risk for death from peripartum arterial rupture or uterine rupture [Pepin et al 2000]
EDS is an incurable genetic condition and despite some visible symptoms, leads to a largely an invisible disability. There is no cure, no hope of a cure in our lifetime and no significant treatment options other than pacing, pain management, treating any secondary symptoms and keep your joints as happy and healthy as possible. It’s a difficult condition to understand, on Monday we may be cycling to work and on Thursday we arrive in a wheelchair; that’s if we can find a flexible job that tolerate our many quirks, absences and general unreliability. There’s one thing about a chronic condition like this that is an ever present constant, it’s unpredictable. Symptoms flare, interact, happen without warning and quite a bit of it is dependent on things like the weather – humidity, barometric pressure, temperature, thunder storms. It’s a constant struggle to stay on top of it all, collagen is present in just about every part of the body and when a basic building block is faulty, life becomes complicated. There is an upside though, variable also means that there are good days, that there are days where we can cycle to work, there are moments where we feel almost okay and when it comes to accessibility, it means that sometimes things that were inaccessible yesterday is accessible today. That’s a good perk to cherish, particular on days when you’re stuck in your wheelchair outside because there’s a 3-inch step at the door.

* Levy, 2007. ‘Ehlers-Danlos Syndrome, Hypermobility Type‘.

** Pepin, Byers, 2006. ‘Ehlers-Danlos Syndrome, Vascular Type‘