What’s EDS?

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My six year old, Cass, has been diagnosed with EDS-HT and Type 1 Diabetes. She wanted her own space to talk about her experience, how we’re still learning to cope, how she’s managing school and growing up. She also have a particular interest in how EDS-HT and Type 1 Diabetes affect each other.  Have a look at life with EDS-HT & T1D from a six-year old’s perspective at  Project Serenity.

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 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 the hypermobility type, also known as Hypermobility Syndrome, but I also have a family history of overlapping features with the classical type one generation back and vascular complications usually seen in the vascular type two and three generations back.

I have multiple secondary and associated conditions, but for me it all feels connected under one umbrella, rather than having a series of multiple conditions. Here is how I experience EDS-HT.

Neurological Symptoms

Headaches & Migraine

A severe headache is one of my earliest memories. I have been plagued by severe headaches my whole life; at first episodic during childhood, then chronic in my teens. I have a family history of migraine with aura going back multiple generations.

I collected quite a few different headache diagnoses in my teens and I do experience a wide range of headache types, from typical tension headaches when my neck muscles are too tight to debilitating migraine attackes with wide-ranging aura symptoms.

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Migraine is common in those with EDS. For me, it is one of the most debilitating symptoms I experience. Howard P Levy, MD, PhD at Johns Hopkins: “Headaches, especially migraine, are common [Rombaut et al 2010b, Rombaut et al 2011a, Rombaut et al 2011b]. Cervical muscle tension, temporomandibular dysfunction and stress are some of the likely contributing factors.”1

Chronic Pain

Chronic pain is a persistent symptom of EDS. Different types of pain is present: neuropathic pain, muscular pain and acute episodes of pain with subluxations/dislocations and injuries. Howard P Levy, MD, PhD at Johns Hopkins:

“Chronic pain, distinct from that associated with acute dislocations, is a serious complication of the condition and can be both physically and psychosocially disabling [Sacheti et al 1997, Hagberg et al 2004, Rombaut et al 2010a, Voermans et al 2010a, Rombaut et al 2011a, Rombaut et al 2011b].” I most certainly find it disabling.

Neuropathic pain is usually chronic burning, sharp, stabbing and shooting pain that may be accompanied by allodynia (harmless stimuli, like light touch provoking pain), hyperpathia (a short episode of discomfort causing prolonged severe pain) and hyperalgesia (discomfort, which would otherwise be mild, being felt as severe pain). One of my odd symptoms that fell in place after my EDS diagnosis is burning feet syndrome.

Howard P Levy, MD, PhD at Johns Hopkins: “Neuropathic pain variably described as electric, burning, shooting, numb, tingling, or hot or cold discomfort, may occur in a radicular or peripheral nerve distribution or may appear to localize to an area surrounding one or more joints [Camerota et al 2010]. … One hypothesis is that neuropathic pain may result from direct nerve impingement (e.g., by subluxed vertebrae, herniated discs, vertebral osteoarthritis, or peripheral joint subluxations). In addition, there may be mild-to-moderate nerve compression within areas of myofascial spasm.”

Muscular pain feels different from neuropathic pain. It is the general throbbing aches and pains most people experience when they have the flu, except that it’s more pronounced around and between joints. I was diagnosed with Fibromyalgia, chronic back pain and Myofascial pain syndrome and do find that widespread muscular pain is a persistent problem.

Howard P Levy, MD, PhD at Johns Hopkins: “Muscular or myofascial pain, localized around or between joints, often described as aching, throbbing, or stiff in quality, may be attributable to myofascial spasm, and palpable spasm with tender points (consistent with fibromyalgia) is often demonstrable, especially in the paravertebral musculature [Castori et al 2010a, Rombaut et al 2010b, Rombaut et al 2011a, Rombaut et al 2011b]. Myofascial spasm possibly occurs in response to chronic joint instability, but this has not been systematically studied. Myofascial release often provides temporary relief.

Chronic Fatigue

Fatigue is a common and debilitating symptom. Dr Alan Hakim provides more information via the HMSA about chronic fatigue and hypermobility syndromes here.

He states that chronic fatigue “is often an over-whelming lack of energy that may appear after even the most minimal activity” and that “The cause for such profound symptoms is unclear and may be related to pain, autonomic dysfunction, and poor sleep patterns and sleep quality. Addressing these issues may help relieve the severity of the fatigue.”

Cardiovascular/Neurocardiovascular Symptoms

POTS and Hypotension

Autonomic dysfunction/dysautonomia is closely associated with EDS. Common symptoms are chronic fatigue, dizzy spells and passing out, particularly when changing positions, palpitations and sometimes chest pain and shortness of breath.

I started experiencing these symptoms in my teens and found them particularly debilitating during my teens and twenties. Unrelenting fatigue was pervasive. I was initially diagnosed with Chronic Fatigue Syndrome, neurally mediated hypotension, vasovagal syncope and later on Paroxysmal supraventricular tachycardia (PSVT) and Mitral Valve Prolapse. Interestingly, the MVP appears to be intermittent (which is apparently highly unusual). One check-up it’s there and next time it isn’t and then it’s back again.

After seeing a specialist familar with POTS, I wore a 24-hour event monitor, endured a tilt table test and due to having seizure like symptoms when I fainted during the test, also had vagal excitation tests whilst under continuous EEG and ECG monitoring. I was then diagnosed with POTS, as well as reflex anoxic seizures, a benign condition that doesn’t require any medication, caused by a reduction in cerebral perfusion by oxygenated blood, usually seen in young children. I think my consultant went out on a limb with that one, but it was the only possible explanation that matched my symptoms and test results.

Howard P Levy, MD, PhD at Johns Hopkins:”Many individuals with EDS, hypermobility (and classic) type report atypical chest pain, palpitations at rest or on exertion, and/or orthostatic intolerance with syncope or near syncope [Rowe et al 1999, Gazit et al 2003, Mathias et al 2012]. Holter monitoring usually shows normal sinus rhythm, but sometimes reveals premature atrial complexes or paroxysmal supraventricular tachycardia. Tilt table testing may reveal neurally mediated hypotension (NMH) and/or postural orthostatic tachycardia syndrome (POTS).”1

I no longer experience debilitating dysautonomia and I can tolerate some caffeine consumption at a low level. I do still have episodes that last a few hours where symptoms flare up, but never as severe as they used to be, almost always caused by a specific trigger and as soon as I rest, drink a lot of water and sort out my electrolyte balance, it clears up pretty quickly.

More about Autonomic Nervous System and Hypermobility Syndromes at the HMSA here and Autonomic Dysfunction and POTS at Ehlers-Danlos Support UK here.

Family history of vascular complications

Vascular complications is not a symptom of hypermobility type EDS. I’ve not had any vascular complications and hopefully never will, but with a family history of vascular symptoms I am aware of the complications and incidents associated with it, like 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.

Musculoskeletal

Joint Instability, hypermobility, subluxations and dislocations

Joint instability, hypermobility, subluxations and dislocations are often the symptom many associate with EDS-HT. Dislocations and subluxations are not the spectacular event that most people seem to anticipate and medical intervention is usually not required.

Howard P Levy, MD, PhD at Johns Hopkins: “Joint laxity, instability and excessive joint motion is frequently evident on routine activity, even in the absence of overt subluxation or dislocation.

  • Subluxations and dislocations are common. They may occur spontaneously or with minimal trauma and can be acutely painful. Reduction often occurs spontaneously or can be accomplished by the affected individual or a friend/family member. For most affected individuals, medical intervention for an acute dislocation is not usually necessary, but pain can last for hours or days after an event.
  • All sites can be involved, including the extremities, vertebral column, costo-vertebral and costo-sternal joints, clavicular articulations, and temporomandibular joints.
  • Sprains or twisting of the ankles and buckling or “giving out” of the knees are common.
  • Iliotibial band syndrome or “snapping hip” is a common symptom, often perceived by the affected individual as hip joint instability [Branson et al 2011].
  • Temporomandibular dysfunction (“TMJ syndrome”) is relatively common [Hagberg et al 2004, De Coster et al 2005], and can be thought of as a specific example of joint degeneration and osteoarthritis.
  • Females tend to have more substantial laxity than males.
  • Younger individuals tend to have more substantial laxity than older individuals [Castori et al 2010a].
  • Tendinitis and bursitis may occur [Rombaut et al 2010b, Rombaut et al 2011a, Rombaut et al 2011b], especially greater trochanteric bursitis in those with iliotibial band syndrome. EDS does not directly cause inflammation, and these problems are likely secondary to joint instability.”

I find joint instability, subluxations and dislocations challenging. I spent a long time learning anatomy and was fortunate enough to have a friend who also happened to be a medical professional help me figure out what my joints are doing and how best to fix it.  Joints do not just pop out in the traditional way as is seen in trauma, they twist and turn in fun and interesting ways at various different and weird angles. It isn’t always obvious, but it happens all the time.

For me, something is always out of place. There isn’t a minute in a day where there isn’t a bone that is sticking into soft tissue in a way that it shouldn’t, somewhere in my body.

Impaired proprioception and balance

Proprioception is the unconscious perception of movement and spatial orientation. It is that internal sense of knowing where each part of the body is without looking at it. It’s permanently impaired in those with EDS and can lead to problems with balance and coordination.

I’m clumsy. I walk into things, I struggle to walk well in less light because I’m not sure where I am unless I can see objects around me. I find that I do many things consciously that other people seem to do subconsciously.

I look at my keyboard when I type and my feet when I walk on uneven surfaces. I am always calculating distances, approximating location and sometimes miss my mouth when I eat, thinking my fork is closer than it actually is. I am not afraid of heights, but I do have a fear of falling, not on level surfaces, but when faced with tall spiral staircases or cliff edges.

Howard P Levy, MD, PhD at Johns Hopkins: “Poor balance is common, with increased incidence of falls and occasionally fear of falling [Rombaut et al 2011c].”

Injuries, common musculoskeletal 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 I tend to have multiple issues at the same time, they tend to be recurrent or chronic and injuries take longer to heal and are more likely to develop complications.

My list includes the following and then more that I can’t 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 deformities, proximal interphalangeal joint sprains.

I haven’t sought medical treatment for musculoskeletal injuries in a very long time. I just deal with it. In the greater scheme of things, a case of runner’s knee or tennis elbow has become akin to having a cold. I adapt my daily physio program, I check for complications, rest, apply ice, compression and elevation and wait for it to get better again. Not much different from a dislocated knee cap of which I have much experience.

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 is 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. Ehlers-Danlos Support UK has detailed information in an article written by Dr Nigel Burrows MD FRCP, Addenbrooke’s NHS Trust, Cambridge here.

Easy bruising

I’m always covered in bruises and always have been. I used to think ‘how did that happen’ until my rheumatologist remarked that I bruise spontaneously and so nothing happened.

I often have fingers edged into my upper arms when someone grabs me as I was about to fall over or where pressure was applied 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 at the mild and moderate levels I experience.

Delayed wound healing & scarring

It takes on average 4-6 times longer for me to heal than the average person. I have had stitches tear out and combined with prolonged bleeding and resistance to local anaesthesia have made for some interesting trips to A&E.

I scar easily. I have some 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.

Cold Intolerance

My skin does not like temperature changes and reacts badly to cold with  acrocyanosischillblainslevido reticularis,  Raynaud’s Syndrome and complications in the past include developing ulcers and a long time ago, ulcers lead to gangrene on my fingers once.

Higher risk for early onset varicose veins

Associated closely with vascular type EDS, but also common in other types. I have a family history of varicose veins which have lead to superficial thrombophlebitis and deep vein thrombosis in more than one relative. I don’t have varicose veins.

Minor features

Piezogenic papules (tiny herniations of fat around the heel when weight baring) are common but rarely painful and keratosis pilaris (permanent “chicken skin”) may be more common.1

Rashes

I have not been able to find any medical articles linking rashes with EDS, but I have more than my fair share of these. I get prickly heat rashes in the summer months if I overheat for more than an hour or two. I get it at such relatively low temperatures that during the spring and autumn I have chill blains and a heat rash at the same time. It affects my hands first, then travels up my arms, start at my feet next and travel up my legs. It itches, it burns and it isn’t pleasant.

I also get a weird large circular red spot rash where my skin becomes solid underneath and it feels like a combination of a serious bruise and a burn. Only on my arms and legs, less than ten spots at a time and these itch and burn for a week and take a couple of weeks to disappear.

I itch, a lot, almost all the time and I almost always have some sort of rash, either cold, heat or allergy related, somehwere.

Tissue fragility

Prolonged bleeding despite normal coagulation status

Characterised by menometrorrhagiamenorrhagianosebleeds 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”  (Levy,2007).

Mostly it’s an annoyance, a paper cut keeps bleeding, but it also increases the risk of excessive bleeding (haemorrhage) when undergoing surgery or suffering serious injuries or less serious, like getting a nosebleed. I used to get servere chronic nosebleed on hot days, but the frequency of these were significantly reduced with surgery.

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, although diaphragmatic 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.

Digestive

Digestive Problems

Digestive problems affect at least half of those with classical and hypermobility EDS. It’s again not a single diagnosis with a simple explanation, but a mixture of symptoms associated with gastroesophageal reflux diseasegastritisgastroparesisirritable bowel syndrome and diverticulitis. Ehlers-Danlos Support UK has an extensive article on the digestive problems associated with EDS here and the HMSA provide information about Bowel Problems here.

Howard P Levy, MD, PhD at Johns Hopkins:”Functional bowel disorders are common and underrecognized, affecting 33%-67% of individuals with EDS, hypermobility and classic types [Levy et al 1999, Castori et al 2010a].

  • Gastroesophageal reflux and gastritis may be symptomatic despite maximal doses of proton pump inhibitors with additional H2-blockers and acid-neutralizing medications.
  • Early satiety and delayed gastric emptying may occur and may be exacerbated by opioid (and other) medications.
  • Irritable bowel syndrome may manifest with diarrhea and/or constipation, associated with abdominal cramping and rectal mucus.”

More details about the gastrointestinal issues associated with EDS here at ehlers-danlos.org

My daughter with EDS-HT doesn’t tolerate gluten or diary. After much debate and in-depth investigation, the conclusion we have come to is that due to her digestive system being so sensitive, anything irritating – and both gluten and dairy are irritants – aggravates her digestive problems and exacerbates symptoms.

Respiratory

Is it Asthma?

A clinical study published in 2007, Asthma and airways collapse in two heritable disorders of connective tissue, concluded that “We have demonstrated, for the first time, that individuals with HMS/BJHS and EDS have respiratory symptoms in association with various pulmonary physiological abnormalities. The increased prevalence of asthma may be due to linkage disequilibrium between the genes causing these conditions or a function of the connective tissue defect itself.”

I have a family history of severe asthma and had my first severe asthma attack before I was 3. I stopped breathing and was injected with an Epi-Pen. I was later diagnosed with brittle asthma type 2 and my symptoms were text book for over 20 years.

I was symptom-free except during the occasional infrequent, maybe once or twice a year, life-threatening attack that progressed within 10-15 minutes to the point where I couldn’t breathe. I was prescribed an Epi-Pen for such occasions to tie me over until emergency services arrived. Sometimes, I needed mechanical ventilation to get me breathing again.

My asthma worsened after relocating to the UK. It became debilitating with multiple daily attacks despite being on daily medication without daily medication, I had chronic symptoms all the time. My asthma has finally been well controlled over the last few years under close expert medical supervision and a relatively new inhaler on the market. I no longer experience chronic symptoms year round and have not required emergency medical intervention for many years.

My asthma is allergy mediated. I have hay fever and  perennial rhinitis with pollen, dust and mould spores being the biggest culprits. We do have 2 short-hair indoor cats, but despite a cat allergy, I haven’t noticed a change in symptoms prior to owning a pet. It’s virtually impossible to keep a house dust and dust mite free and adding pet dander doesn’t seem to make a difference to the already existing problem, so I’m keeping my cats.

I also have a sensitivity to aspirin, non-steroidal anti-inflammatory drugs (common in asthmatics) and citrus and a completely unrelated allergy to bees, nickel and mercury.

Respiratory complications

Lung tissue is fragile and in those with respiratory problems, complications are more likely to occur than in the general population. I’ve had a few chronic and recurrent complications – these include chronic bronchitis most winters, recurrent haemoptysispneumonia and pneumothorax, but since my asthma has been well controlled, I have no experienced any significant complications, other than occasional light bleeding*.

* During cold and flu season, I do experience mild haemoptysis, but as soon as I recover from the viral infection, it clears up. My consultant who investigated my lung issues was confident that it’s a self-limiting symptom that does not require medical intervention unless it progresses further, which it hasn’t in recent years.

Vision, Hearing and Speech

Hearing, tinnitus and APD

The bones in the inner ear can also be hypermobile, leading to some hearing loss. Read more about EDS and hearing loss at EDNF. For reasons not yet established, tinnitus and hyperacousis seem to have a higher occurrence in those with EDS. I have chronic tinnitus usually associated with migraine and muscle tension which has improved since I started daily neck stretching exercises that seem to relieve a lot of the tension around my ears. I also have Auditory Processing Disorder caused by a head injury unrelated to EDS.

Swallowing, speech and language disorders

EDS can lead to some speech and language issues, like those outlined in “EDS and Speech and Language Issues” written by Amanda Jenner and Lynne Shields PhD. Articulation problems, swallowing problems, hoarseness/weak voice, fluency and hearing loss/sensitivity are all mentioned.

I experience these intermittently and it usually presents problems after the fact rather than function as a barrier. I tend to suffer symptoms, like pain and jaw subluxation/dislocation after long meetings that required a lot of talking which then affects my ability to communicate for a few days afterwards.

One of the reasons I gave up my job that entailed many public speaking events was due to the resultant voice issues it created to the point where I was incapable of talking normally unless I left long periods for recovery in between speaking engagements.

Sore throat, hoarseness and clear annunciation are some of the more hidden challenges of living with EDS. Voice issues is usually intermittent, but recurrent and it does limit how much I can talk and communicate on a day-to-day basis. More information from Ehlers-Danlos Support UK here.

Vision

I experienced blurred and ‘tunnel vision’ and can have difficulty focusing my eyes, something associated with autonomic problems that can make it difficult to read smaller text sizes or differentiate text against a low contrast background.

I also started having problems with large floaters in my visual field in my teens, confirmed by an opthalmologist to be harmless, but that can be very distracting at times, particularly when looking at a scene with lots of movement.

I have visual migraine auras, but these symptoms usually last for less than an hour and only occur preceding a migraine attack.

On the strange side of things, I can also see through my eyelids to the point where if someone holds up a number of fingers I can tell them how many I see. It also means that I struggle to sleep if rooms are not dark.  My husband also insists that I have mutant genes because I can see in the dark. I have not come across any literature about night vision (or seeing through one’s eyelids) and EDS, but I can definitely can see better in the dark than anyone I know and so can my daughter.

Photophobia

I have photophobia that range from moderate to severe, depending on how many migraine attacks I have where I spend days in the dark. At the best of times, my eyes are light sensitive despite my best attempts to live in brighter spaces and due to migraine, fluorescent light, flickering and flashing is not something I can tolerate.

Sleep

Sleep disturbances

Chronic pain often disrupts sleep and joint issues occur regularly during the night. I have issues falling asleep and go through periods where insomnia is a persistent problem. I sublux joints and dislocate kneecaps turning over in bed, have bad dreams and wake up frequently throughout the night and then I can’t get back to sleep afterwards. Migraine headaches start in the early morning hours, disrupting sleep and asthma symptoms are more prevalent during the night.

Various sleep disorders are common in those with EDS. I don’t consider the diagnosis I have compiled over many years particularly significant, like bruxismnocturnal myoclonus/periodic limb movement disorder, sleep paralysis and restless leg syndrome (RLS) as again, I think it is all symptomatic of EDS.

Mental Health

Depression

I have a history of severe depression and it is a common co-morbid condition to EDS and chronic pain. Howard P Levy, MD, PhD at Johns Hopkins:

“Validation of the affected individual’s symptoms can be immensely helpful, as many with EDS, hypermobility type have been accused of malingering or diagnosed with primary psychiatric disorders by previous physicians…

Depression is a common result of the chronic pain, disability, and other complications. Psychological and/or pain-oriented counseling can improve adaptation to and acceptance of these issues and the necessary physical limitations. Cognitive behavioral therapy can be particularly beneficial, but requires active patient participation [Baeza-Velasco et al 2011].”

I have received extensive Cognitive Behavioural Therapy, tried a large variety of anti-depressants over many years (none helped me) and have attended more than one pain management clinic which had limited value.

Like many with EDS, I have been accused of malingering, attention-seeking and exaggeration, not just before my EDS diagnosis, but also afterwards by medical professionals either unfamiliar with EDS or physiotherapists/occupational therapists who did not take invisible or intermittent symptoms (which were absent at the time of an assessment) into account. It is a devastating and traumatic experience.

I freely admit that I do have mental health issues and that particularly before and immediately after I was diagnosed, I had significant issues coming to terms with all the physical symptoms that impact on daily living, but I also do have a serious physical condition that is not imaginary.

I received counselling for many years to overcome these issues and learn to live well with a chronic health condition, but every time I am accused of exaggeration and malingering yet again and have my opinion discounted because of it, I really struggle to remain positive and employ the coping strategies I have learned.

Generalised Anxiety Disorder

I was diagnosed with Generalised Anxiety Disorder and Panic Disorder as a teenager, prior to being diagnosed with EDS and POTS.

The main source of my anxiety is around doctors, assessments and medical reports due to the fact that I have been subjected to assessments, tests and medical judgements my whole life and many have been unpleasant. I have been described as uncooperative, attention-seeking, hysterical, exaggerating my symptoms and malingering. I have been told by professionals who have only met me once or twice after looking at my (incomplete) medical notes, which it turns out is missing many key reports and information, basically that I cannot possibly be as severely affected as I say I am.

Despite being diagnosed with Auditory Processing Disorder, I manage reasonably well in face to face meetings due to extensive therapy, acoustic training, lip reading classes and other coping strategies, but struggle communicating without visual cues and a personal assistant. As a result, I do not use the phone and usually ask to have someone else present in a meeting. I have been told that no hearing impairment can be observed in one to one meetings  and therefore I  should not have any difficulty using the phone and should not require an assistant in medical meetings.  I have been discounted, disbelieved and treated with a healthy amount of antagonism and animosity. Instances like these exacerbate my anxiety. I am a pretty anxious person by nature. I am generally terrified of health professionals and medical appointments.

OCD Obsessive Compulsive Disorder

I have OCD . I have always had OCD. I am reasonably high functioning for someone with OCD due to learning some excellent coping strategies from a brilliant therapist and because I have daily help curbing both obsession and compulsion.

I check things. Everything. Taps, switches, oven knobs, windows, door locks, the kettle, the toaster, the TV, my computer, my phone, my laptop, car doors, candles, directions, instructions, the mail, anything I write or say, my wallet, my phone apps, my bag, my inhalers, my medication, my symptoms, whether I can still bend my fingers. I check things until my fingers bleed or dislocate so many times from pushing buttons that I can’t bend them anymore.

I count things. Everything. I always have some equation in my head that I am trying to balance with environmental cues and until I do, I stay in one place. I don’t walk through doors until I’ve balanced out the door panels and frame. I don’t get into a vehicle until I have added up the number of straight lines it has. I count steps and often take an extra step or two to reach the right number in my head. I’ve walked around the school when picking up my daughter because I needed the numbers to add up before I could go inside and they just wouldn’t add up so I had to start over and walk a similar distance around the school as from the car park to the gate. I work out the volume capacity of each glass or mug I use. I calculate everything.

In a two-week CBT program as a child I learned a new skill. Stop at three. I did very well. I stopped checking endlessly. Instead of checking, I began to plan for all  eventualities. I had a fire escape route  and I always know the emergency procedures and all the fire exists for anywhere we go. I look it up before we even get there. I started packing a bag of useful things – at one point I learned lockpicking so that in case I forgot my keys (and I couldn’t check if I had them after three times), I would be able to get into my house. For a while I became a zombie apocalypse expert because this was something that could actually happen.

I learned the joy of redundancy. I build in redundancy. My daughter was able to say redundancy before she was 2. I can’t function without redundancy.

I still check things. I still worry. I worry that I only think I checked it but actually didn’t. I worry that in checking something I caused the spark that is going to burn down the house. You see I don’t just check, I have to turn switches to make sure. I turn on the kettle to make sure it was turned off before, but then I worry that maybe the second time I didn’t turn if off again, so I have to check again.

Lucky for me, my husband came along. Someone I can trust. He now has a list of check-lists and when I get anxious, I ask, did you check everything, is it all okay? And if he says yes, I trust him. I trust him even when I feel like I don’t want to trust him.

I still ruminate. I write a lot. I talk a lot. I worry about what I type. I worry about every single conversation I have for days, months, years afterwards. I go over and over it in my head until I can’t sleep or eat or relax. Did I get it right? Did I accidentally lie? Did I exaggerate? I hate exaggeration. Was I clear? Was I precise? What did the other person think of me? Did they think I was crazy? Weird? Lying? Looking for attention? Did they notice that I count things? Did they notice that I couldn’t understand them?

I count. I have little patterns I follow in my head. Loops I make up. Steps to complete before I can move on. I have to reach certain numbers in certain ways before I can leave a room. I have little rituals, small mathematical tricks always running through the back of my mind and I can’t imagine life without them. I count. I am always counting. I have never been able to stop.

I have learned to live with my OCD with my main coping mechanism being my husband who is there 24-hours every day to keep me on track. To make sure I don’t go down the rabbit hole and loose my life. I am very lucky.

Other diagnoses

Despite technically having dozens of diagnoses, I think I really only have one condition: EDS-HT. The only possible exceptions is a nickle and mercury allergy (confirmed with allergy testing), APD (Auditory Processing Disorder) and that I was diagnosed with a biopsy with IgA Nephropathy in childhood, but after a few flare ups that responded well to steroids, I have been asymptomatic for years. I think all my symptoms are in some way related to EDS.

Diagnoses prior to EDS

I was diagnosed with Chronic Fatigue Syndrome, Fibromyalgia, Somatization Disorder (and other similar psychiatric diagnoses) prior to my EDS diagnosis.

Dr Levy states: “Affected individuals are often diagnosed with chronic fatigue syndrome, fibromyalgia, depression, hypochondriasis, and/or malingering prior to recognition of joint laxity and establishment of the correct underlying diagnosis” and that “”A subset of individuals with fibromyalgia and/or chronic fatigue syndrome may have EDS as the underlying etiology.”

I don’t think I am faking the level of pain, fatigue and disability EDS has caused, I don’t think I exaggerate my symptoms or their impact, but I also don’t think mental and physical health can be compartmentalized.

I think there is always a mental health component to physical symptoms (pain is worse when I’m feeling depressed) and always a physical component to mental health symptoms.

I think that from the person actually experiencing these symptoms’ point of view, there is no real distinction between different conditions, it is all just a part of who I am and I don’t have any prejudices toward physical vs mental health conditions or symptoms. I think they are equally valid, but I do think that diagnosing people with labels that says I don’t believe you are in as much pain/disability as you think/say, is rubbish.

Conclusion

EDS is an incurable genetic condition and despite some visible symptoms, leads to largely invisible impairments. 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 as well as our pain med regime that could include some powerful narcotics.
I am always tired. Everything always hurts. I live in a sleep deprived haze. I don’t know how I will feel from one hour to the next. Symptoms flare up, interact, happen without warning and it is a constant struggle to stay on top of it all. Life becomes complicated. But there is an upside to variable conditions.
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.
I do think with appropriate help and support and by living a healthy, active lifestyle, it is possible to rise above the many challenges it creates and live a happy, fulfilling life. I don’t plan to ever stop trying to do just that.

Further Reading on EDS

  1. Ehlers-Danlos Syndrome, Hypermobility Type, written by Howard P Levy, MD, PhD, Johns Hopkins University School of Medicine
  2. Ehlers-Danlos Hypermobility Type FAQs EDNF – Answers many questions about associated conditions like Migraine and POTS based on medical research articles.
  3. DWP “Joint Hypermobility Syndrome”
  4. The clinical presentation of Ehlers-Danlos Syndrome – useful information for babies and toddlers with EDS
  5. NHS Choices: Joint Hypermobility Syndrome/ EDS Hypermobility Type
  6. Ehlers-Danlos Syndrome, Vascular Type‘, Pepin, Byers, 2006.
  7. Hypermobility Syndromes Association (HSMA): Help & Advice

This article was last update on 26 January 2017.

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