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What is Ehlers-Danlos Syndrome (EDS)

An Albino Zebra representing Ehlers-Danlos Syndrome

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It’s Ehlers-Danlos Syndrome Awareness Month and time for an updated post which describes the symptoms and attributes of EDS. Ehlers-Danlos Syndrome is a group of genetic connective tissue disorders that affects the body’s ability to produce strong, healthy collagen. As a result, people with EDS usually have hypermobile joints and some types include hyper-extensible skin, but these are only a couple of the most easily recognized symptoms of Ehlers-Danlos Syndrome. The reality is that EDS has the ability to affect any and all parts of the body in a wide variety of ways that often seem strange and enigmatic to those ignorant of the condition.

EDS’s 13 Subtypes and Their Symptoms

 In 2017, the Ehlers-Danlos Society worked with an international panel of experts to update EDS classification and better define the criteria for diagnosis. As of the 2017 diagnostic criteria changes, there are now 13 distinct subtypes of Ehlers-Danlos Syndrome:

  1. Classical EDS (cEDS)
  2. Classical-like EDS (clEDS)
  3. Cardiac-valvular EDS (cvEDS)
  4. Vascular EDS (vEDS)
  5. Hypermobile EDS
  6. Arthrochalasia EDS (aEDS)
  7. Dermatosparaxis EDS (dEDS)
  8. Kyphoscoliotic EDS (kEDS)
  9. Brittle Cornea Syndrome (BCS)
  10. Spondylodysplastic EDS (spEDS)
  11. Musculocontractural EDS (mcEDS)
  12. Myopathic EDS (mEDS)
  13. Periodontal EDS (pEDS)

Update: Recently, a 14th type was discovered, however it has yet to be classified. On last report, only 4 people had been identified with what may be an extremely rare autosomal recessive type involving the AEBP1 gene.

The most common forms of EDS include Classical, Vascular and Hypermobile EDS. Hypermobile EDS is by far the most commonly diagnosed and is the only form of EDS for which the genetic marker has not yet been discovered. While each of these conditions have features that are specific to that type alone, there are some things which are fairly universal about Ehlers-Danlos Syndrome, such as our hypermobile joints. Hypermobile joints are loose and to dislocate or subluxate (a quick dislocation which pops back in on its own) easily. This has a tendency to cause recurrent soft tissue damage, the formation of osteoarthritis and other joint issues. Many people with EDS need multiple joint rehabilitation, replacements and surgeries throughout their lifetimes.

Because spines are a string of small bones and joints separated by thick discs comprised of collagen, zebras are also prone toward scoliosis, degenerative disc disease at young ages, spinal stenosis, ankylosing spondilitis, craniocervical instability and chiari malformations, among many other spinal conditions. I had my first herniated disc at 19 and was refused imaging for over 10 years because the doctors insisted I was “too young to have that problem.”

Our joints are only a small part of the picture when it comes to EDS. Because the body is comprised of more than 80% collagen, EDS can strike anywhere in the body. There is collagen in our blood, our bones, our hair, skin, muscles, organs, and other connective tissues. It is often described as the glue which holds our bodies together, but it’s really so much more. Here’s a list of the many symptoms and comorbid conditions known to occur as part of Ehlers-Danlos Syndrome:  fb_img_1470755630970.jpgfb_img_1470755778226.jpgfb_img_1470755915319.jpgfb_img_1470755925911.jpg

As you can see from this vast list of common symptoms and complications, it is easy for an EDS zebra to be diagnosed with dozens of conditions, disorders and syndromes throughout their lifetime. Currently, I have nearly twenty diagnoses and I am still working on finding doctors capable of diagnosing and treating other existing problems.

The Issues of Diagnosis of Ehlers-Danlos Syndrome

As I stated earlier, the most common forms include Classical, Vascular and Hypermobile Ehlers-Danlos Syndrome. hEDS is by far the most diagnosed, but this may be due in part to the fact that it is often diagnosed clinically (without genetic testing) and is the most well-known form. Since the genetic marker for hEDS has not yet been discovered (unlike other forms) and genetic testing can be expensive and difficult to obtain in both public and private healthcare systems, these issues may also play a factor in the prevalence of this diagnosis compared to other subtypes. When it comes to the diagnosis of any form of EDS, it is understood among patients and EDS specialitss alike that EDS is massively underdiagnosed and/or misdiagnosed.

While I became symptomatic as a teen, I was not diagnosed until the age of 44, despite having Hypermobility and many other clear cut signs. I wasn’t shy about going to specialists and seeking answers, either. Time to diagnosis often ranges from 7-14 years after the onset of symptoms. This is the reason zebras are used as a symbol for EDS and other rare diseases; to encourage doctors to sometimes think zebras instead of horses when “hearing the hoof beats” of connective tissue and autoimmune disease. In medical school, doctors are encouraged to do the opposite and assume every patient has something common and easier to address.

Lack of knowledge on the part of the physician is also highly problematic. While I live in a fairly large American metropolitan city and saw dozens of doctors, none of them could tell me what I was suffering from. I actually had to discover the diagnosis for myself, judge myself against the criterion and spend over a year trying to find a doctor with enough experience to diagnose me. Cincinnati has a geneticist who can diagnose EDS, but they don’t take adults and I know for a fact his waiting list is a year long. Ultimately, I was diagnosed by a rheumatologist who did a fantastic evaluation, but refused to take me on as a patient due to the complexity of the condition. I am by no means alone in this.

In Canada, I hear frequent stories of possible EDSers being turned away from the only places that can diagnose them because they’re simply overwhelmed with patients and choosing not to help those whose care may not seem as critical to their survival. What that means is that millions of us go undiagnosed, untreated and suffer needlessly for years on end without assistance or hope of intervention.

While EDS is more prevalent in women than men, it is a genetic disorder that anyone can get, regardless of sex, ethnicity or race. Just as fickle as its lack of discrimination is how it affects the individual. How I experience EDS is even different than how it affected my own mother. While some of this is dependent on the development of comorbidities, even when those match, ability levels and complications can be vastly different. If you have a loved one with EDS it’s very important to understand this and not expect them to be like Mary who happens to have the same condition.  Understanding this makes organizations which deny patients aid based on subtype rather than individual need seem pretty ridiculous and downright cruel.

How Diagnosis is Made

For those who do find a doctor qualified to diagnose their condition, there are clear-cut criteria one must meet for diagnosis. These parameter changed in 2017 along with the condition types. Of all 13 subtypes, only one cannot be confirmed via genetic testing. While genetic testing is the preferred method of diagnosis, there simply aren’t enough geneticists to handle current needs in any country, so it is sometimes left to a strictly clinical diagnosis using the international criteria and the Beighton Score.

“For those who meet the minimal clinical requirements for an EDS subtype—but who have no access to molecular confirmation; or whose genetic testing shows one (or more) gene variants of uncertain significance in the genes identified for one of the EDS subtypes; or in whom no causative variants are identified in any of the EDS-subtype-specific genes—a “provisional clinical diagnosis” of an EDS subtype can be made. These patients should be followed clinically, but alternative diagnoses and expanded molecular testing should be considered.” (The Ehlers-Danlos Society)

The international criterion differ based on subtype, but there are many similarities. To get an idea of what’s required, the criteria for hEDS is as follows:

The diagnosis of hypermobile EDS (hEDS) remains clinical; there is no molecular, genetic cause yet identified, so there is no test available for almost all with hEDS.

There is a clinical spectrum ranging from asymptomatic joint hypermobility, through “non-syndromic” hypermobility with secondary manifestations, to hEDS.

A diagnosis of hEDS should be assigned only in those who meet all of the criteria, which should help research efforts to discover the underlying genetic cause(s) which, in turn, may help clinical management. As this is a clinical diagnosis, it’s important to be relatively confident that the diagnosis is not instead one of the many other disorders of connective tissue. Hypermobile EDS is inherited in the autosomal dominant pattern.

The clinical diagnosis of hEDS needs the simultaneous presence of criteria 1 and 2 and 3. This is a complex set of criteria, and there is much more detail than presented in this overview; please see the page for hypermobile EDS.

  1. Generalized joint hypermobility (GJH); and
  2. Two or more of the following features must be present (A & B, A & C, B & C, or A & B & C):

            Feature A—systemic manifestations of a more generalized connective tissue disorder (a total of five out of twelve must be present)

            Feature B—positive family history, with one or more first degree relatives independently meeting the current diagnostic criteria for hEDS

            Feature C—musculoskeletal complications (must have at least one of three); and

  1. All these prerequisites must be met: absence of unusual skin fragility, exclusion of other heritable and acquired connective tissue disorders including autoimmune rheumatologic conditions, and exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity.

There is a range of conditions which can accompany hEDS, although there is not enough data for them to become diagnostic criteria. While they’re associated with hEDS, they’re not proven to be the result of hEDS and they’re not specific enough to be criteria for diagnosis. Some of these include sleep disturbance, fatigue, postural orthostatic tachycardia, functional gastrointestinal disorders, dysautonomia, anxiety, and depression. These conditions may be more debilitating the joint symptoms; they often impair daily life, and they should be considered and treated (The Ehlers-Danlos Society).

For the full criterion for all 13 subtypes, visit the Ehlers-Danlos Society

To better understand these criterion, here are the criteria broken down by section:

hEDS Criterion 1 for DiagnosishEDS criterion 2 for diagnosishEDS criterion 3 for diagnosis

The graphic below explains which joints are checked for Hypermobility during examination. Note that the Beighton is based ONLY on the joints shown. In order to meet the criteria, children need 6 or greater, adults under 50 need 5 or greater, and anyone over 50 must have 4 or more, as we lose our Hypermobility to arthritis and other conditions along the way. 

fb_img_1471135396519.jpg

It’s important to understand that while we’re flexible, hyperextending our joints can have disastrous results. Please do not try these outside of being examined!

If you suspect you may have EDS, it’s important to get diagnosed, even if you haven’t started experiencing symptoms until later in life. Hormonal changes, such as puberty and menopause, often trigger symptoms, as does illness, injury or physical or emotional trauma, creating wild fluctuations in the typical age of onset. EDS zebras need to protect their joints by modifying exercise and other activities, eat whole organic foods and care for their bodies in special ways.

To find out more about how to care for your Ehlers-Danlos body, a good place to start is our Health & Wellness Section!

References and Additional Reading Materials:


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Traction Collars & the War Against Neck Pain

Please note this post contains affiliate links. Thank you.


Spinal problems never run on short supply for a person with Ehlers-Danlos Syndrome (EDS) or another Hypermobility Syndrome Disorder (HSD), conditions which cause a person to produce weak, faulty collagen. Collagen is often described as the glue that holds our bodies together. Over 80% of our bodily tissues are comprised of collagen,from our skin, hair, nails and joints, to even our bones, organs, and muscles. Everything has some collagen in it. Our spinal columns are comprised of many tiny bones which are stabilized and cushioned by collagenous formations known as discs and the whole Jenga party is kept together by various connective tissues (see the diagram to the left). All of these structures are comprised of… you guessed it: Collagen. In people with EDS/HSD, naturally these structures will be weak and prone to early degeneration, leading to a life of instability and easy injury, chronically dislocating vertebrae that pinch nerves, impinge the natural movement of fascia and other soft tissues, abnormal bone growth that cause tears in the surrounding tissue and even a collapse of the structures which hold the skull in place at the top 3 of the spine, creating craniocervical instability and chiari malformations.

Wins and Losses in the Jenga War

My spine began breaking down quite young and I suffered back pain regularly as a teen. I herniated my first disc as a nineteen year old working as a certified nurse’s aide in a full service residential program. I lifted a patient and nearly ended up on the floor, crippled by pain.

I was told by the urgent care doctor they sent me to that I was young. I couldn’t possibly have done any damage to my spine. I must have just torn the muscles on both sides of my spine. He gave me pain pills, an order to rest for a week and sent on my way. It took 4 weeks before I could even think about getting back on my feet. I tried returning to my job 3 times, only to realize my career in nursing was clearly over, as any little thing now re-injured my back and doing my nursely duties was no longer feasible.

It started an avalanche of back problems that would be occasionally medicated and rehabbed, but never imaged or properly examined to see why I was in so much pain until I was in my thirties. By then, I had herniated discs and signs of deterioration throughout my entire spine that had been repeatedly ignore because I was “too young.”

The fact that pain in young people, most especially young women and women of color, who face constant racial bias and neglect from our healthcare system, is a major sticking point for me. I may never stop rehashing how neglected I was by the medical community or those closest to me who couldn’t bother to support me enough to believe in or fight for what I needed in those early years. I could be living a different life had a single person taken me by the hand and said “I believe you. Let’s see if we can get to the bottom of this.” We have to keep voicing these things until the day the problem no longer exists.

These problems are ten fold when you have a chronic illness. So here I am, sharing products like this one and talking to other women about ways of healing, because the system that’s supposed to help us is failing. While I personally have better doctors than ever before, they still aren’t trained well enough to evaluate me properly for craniocervical instability or Chiari malformation, even though they know I’m an excellent candidate for these conditions. I don’t even lived in an isolated rural area. Kentucky may sound rural, but in reality, I live 15 minutes from Cincinnati, Ohio where there’s a very good medical teaching university.

I don’t have the answers to these complex problems other than to do my best to learn for myself and care for this wacky Ehlers Danlos body to the best of my own abilities, relying on the doctors I do have to fill in the gaps when I need them.

Adding a New Weapon to My Arsenal

Why yes, that is a great shirt I’m wearing. Thank you!

When I run into problems like my cervical spine popping out of place for several weeks, I don’t go to the doctor anymore unless I feel certain the pain is new or very different. I get started on my own rehab. I won’t lie, the pain was a zebra level 10 and there were days I’d have been thoroughly satisfied if I could just behead myself and be done with it, but I made it through. I made it through because I have tools like the fasciablaster, an ultra cavitation machine with far infrared (more info coming soon), AloeMD, epsom salt baths, physical therapy exercises, rest, ice, muscle relaxers and more Advil than I care to admit to (max doses only, no worries), but sometimes we have to compromise to make life more bearable. Why bother the doctor or go through the pain of leaving the house when I’ve already learned what I need to rehab my neck myself? If your answer was pain pills, let me assure that he would neither offer them nor could I take them because of severe MCAS reactions to codeine and opioids.

Knowing that this is a chronic lifetime condition with no real solution, I’m always looking for the best new solutions to address my pain and keep what mobility I have. I decided that while I’m not crazy about braces, it’s time to begin using one to support my head and neck during strenuous upright activity or when I’m going to be bending over a task for some time.

The Branfit Neck Traction Device

I chose this inflatable traction style collar because I felt the way it worked would offer the most support for my head and neck while up and around. Turns out it was a good choice. It definitely fully supports the head and helps to position the neck properly, all without causing any pain. It’s also incredibly affordable. Before you celebrate by popping one in your Amazon cart, let me cover a couple of caveats for this particular item.

First, I can’t guarantee this is the exact collar I bought, but it looks and is described in exactly the same way and even has the same air control and deflation valves. The collar I actually bought came with an overseas shipping nightmare and price tag no one experiencing severe pain should have to pay, so I found this one on Amazon that appears to be the same and ships quickly. Often we need these things fast, not in 6 weeks! It’s also $10 less (no more impulse buys on Instagram for me) and for whatever it’s worth, it’s FDA approved.

Shows a woman holding her neck in pain. Overlay text says "Branfit Neck Traction Device: Fixes posture, relieves stiff neck pain, relaxes neck and shoulders, restores natural cervical curve, headache and migraine relief, supports back and spinal decrompression.

This style of collar does what it’s supposed to great, but you may experience some of the frustrations I see in it. For one, when it arrived, as very strong chemical smell came wafting from the package and I quickly developed a migraine. I put it out on my porch a couple of days and it really seemed to help. After it was unboxed about a week, I no longer needed to wear my mask and the odor was no longer apparent.

The other thing about it is that whatever poly/vinyl material the collar is made of has to be airtight so it can be inflated, so of course it’s a bit like wearing pleather; there’s no breathability to the material wrapping your neck so you end up pretty hot and sweaty under the collar. If you have heat intolerance, you’ll probably see this as a drawback, like me. If you’re always looking for your sweater, it could be an advantage.

On the claustrophobia front, it presses a tiny bit on the jugular and can make you feel a bit uncomfortable at first, but it’s only Velcro straps that hold it in place, so you can be out of it in less than a second. Not only is this great for anxiety or PTSD issues, it’s necessary in case anything were to go wrong and you need to take it off fast.

The thing about braces of any kind of course, is that they shouldn’t be worn excessively, so I actually think this will work just fine. Now that my neck is almost back to it’s normal state, I will only use this brace if I’m going to be doing something for an extended period of time that forces my neck outside of the neutral position. Most importantly, I’m working out my neck and shoulders so they can grow stronger and do the work themselves. That way, I only have to go into my brace during injury flares. Never go into a brace without a definitive plan of how to cut your dependence on it, no matter the path to healing you choose.

At this point there isn’t much I can or am prepared to do about my neck regarding surgical measures. Even though I had a wonderfully successful surgery on my low back, I want to delay surgery on my neck for as long as possible. Surgery can be helpful, but it can also snowball into more problems and yet more surgery, or even worse symptoms than previous. My symptoms are neither life threatening nor debilitating with the exception of occasional flares like this one, so I would refuse surgery anyway.

In light if this, it doesn’t really make sense to push to see other specialists. My fascia work and strengthening usually get me by. My migraines are now very well controlled. The problem with my neck  this time was probably the combination of a mutli-condition flare while also being off my usual exercise routine during my heart issues; this is exactly why I preach reducing workouts over skipping them on bad days. Unfortunately, my buddies anxiety and depression had other thoughts about what we should be doing. We all have our bad moments, even preachy health bloggers.

I may eventually look for a cooler option in braces for the summer months and keep this for the rest of the year, but for now, I think this collar will work just fine to support my head during moments of vulnerability while I try to stretch any possible surgeries as far into the future as I may.

If you decide to purchase a collar like this or already have one, I would love to hear how yours is working out for you. Alternatively, if you have another to recommend, we’re all ears! 😊

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Neck Strengthening Exercises

These resistance exercises for the neck are so simple, I had a tough time conveying the concept. Basically, you’re going to push against your head in order to create resistance; something for your neck to have to fight against. You can’t really see it in the video, because you’re not supposed to move your head, you just meet your hand with equal resistance. It should remain in basically the same position as you resist the force of your hand. You want to do these exercises coming from all four directions, both sides, front and back. Keep your hand position toward the top of the skull on each side. Your hand should be positioned on the center of your forehead when facing the front, so the pressure is high on your skull, but well balanced. On the sides of the head, your hands should be slightly in front of and above your ears. In the back, it should be a mirror of the positioning on your forehead.  It doesn’t really matter if you do a whole set before moving to another side or one repetition; just do what’s most comfortable for you and gets you in a good rhythm. They will help you to gradually build up the muscles in your neck. You can hold them beginning at a count of three as I do in this video and work your way up to a longer hold and more repetitions. You should not experience any pain with this exercise. If you do, you may be exerting too much pressure and need to ease up. You may also benefit from more magnesium in your diet and/or myofascial therapy. if you have persistently sore muscles.

I look at these exercises as a way to maintain a healthy neck. If you already have neck issues that you’re struggling with, seek a therapist and imagining, if necessary. I’ve gone through five or six different head and neck therapies and there’s one I felt was most effective, but of course I’ve lost all the information I had on it and haven’t seen the practitioner for years. I had terrible neck pain for the longest time, but never could quite determine how much was attributed to coat hanger headaches and how much was the damage to my cervical spine caused by my degenerative disc disease. I do have instability in my neck from a couple of herniated discs, but once I got my POTS under control and had been working on  my head, neck and shoulders by fasciablasting them for about a year, my neck pain resolved, with the exception of the occasional twinge.

The important things to remember during this exercise is that you maintain good posture while doing it, try not to hyper extend or overexert your neck by pushing too hard or doing too many reps, and be sure to keep your movements slow, measured and steady. Jerking movements to the neck can be damaging and of course that’s exactly what we want to avoid. Since you can vary the amount of pressure, number of repetitions and length of time you hold the movement, it’s easy to increase the challenge of this exercise. Finally, in my opinion these exercises are safer than flexion and extension exercises for zebras, which primarily involve stretching and could damage our already fragile collagen.

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Wall Squats

wall squatsWall squats or slides are a replacement exercise for traditional squats. They protect the back and knees while insuring controlled movement, making for a much safer exercise for people with knee or back issues. Wall squats work out the same muscles as a squat, the hips, thighs, glutes and abdominal muscles.

The key to doing good wall squats is to hold the lunge position for as long as you’re comfortable, while letting your pain guide your practice. In other words, don’t squat until your muscles burn, always leaving yourself with something in the tank to work with later and don’t bend to the point of pain in the knees or the back. If you have osteoarthritis, you may not be able to bend as far as me or you may bend much further. So long as there’s no pain, that’s okay, at least up to a knee bend of 90 degrees (as if you were sitting in a chair). Even if you can only slide down the wall a couple of inches, you’ll still feel this exercise and get all the benefits out of it.

After 5 months of doing this exercise, I am able to do free-standing squats with no problem. In fact, I can do 3 reps of 15 without pause and only feel a slight burn in my muscles. The wall squats have made a huge difference for me and it seems as if I can even graduate to traditional squats: However, doing free-standing squats comes with a great deal of risk and very little reward that I can see for someone with a degenerating spine and osteoarthritis in both knees. What amazes me is that I no longer experience pain from a deep knee squat up to 90 degrees (at least if it’s not held) which goes to show that exercise really does have a positive impact on osteoarthritis and degenerative disc disease and supporting weakened joints with strong muscle is a sound theory (just in case you aren’t buying it).

Foolishly, I had been doing squats for a while when I started seeing my physical therapist back in March because I was so desperate to build these muscles and had no idea what else to do. Every rep hurt my knees and many times my back would interfere or hurt later on. After years of rotting in beds, recliners and wheelchairs and never properly building myself back up after my back surgery, it took me months to work my way up to 3 sets of 5. Now, I am confident I can 4 times the amount pain-free, but I’m still debating whether or not I want to risk doing this exercise every day, even with a seat behind me to guide me and catch me should I fall when wall squats are just as good.

I’ve come to the conclusion that it may feel like I’m doing more with a free-standing squat , but the reality is that holding muscle contractions does more to build muscle than quick repetitions. Additionally, more repetitions equals more wear on our joints. It makes no sense to “graduate to free standing squats” for people who are going to pay for any wear and tear on our joints. Save that wear and tear for cardio. In the end, I believe your heart and joints will both thank you.

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Side Leg Lifts and IT Band Stretches

SideLegLiftsSide leg lifts work the hips, glutes and thighs. They are appropriate for any level. If you have a collagen disorder like EDS or MCAD, be careful not to hyper-extend yourself when doing these exercises and stay in normal range of motion, while keeping your leg and foot in line with your body.

I also demonstrate a couple of different stretches for your IT bands, which run along the outer portion of the rear thigh and tend to get pretty tight on those of us with degenerative disc disease, collagen disorders and connective tissue diseases. Remember, stretching is only a good idea for areas of tightness with collagen disorders, as stretching extends the length of the tendons and ligaments, it does not loosen muscle. I’ve also found that blasting along the IT band helps some, but my thighs are still terribly fascia bound and it’s really hard to get deep enough with thighs as heavy as mine, so I haven’t really been working on them much. I’m hoping that I’ll have more success as I lose weight.

For full instruction on the side leg lift, see this video:

You can also perform the side leg lift standing, which makes it convenient and easy to do anywhere, so long as you have the core to support it. To perform the standing side leg raise, stand next to a chair or wall and hold on for support. Transfer your weight to your right leg then lift your left leg out to the side at a comfortable level. Return to the starting position in a slow, controlled manor. Complete the desired number of repetitions. Then repeat the exercise with your right leg. Switch legs and repeat until you have completed all your sets. Of course if you have POTS or NMH or are deconditioned and have difficulty staying on your feet for very long, it may be best to do them lying on your side.