What Is Ehlers-Danlos Syndrome?*I’d like to help out my friends and family in understanding what Ehlers-Danlos Syndrome (EDS) can do to a person. This may also help friends understand why I have physical limitations and what those limits may be. It will also help me by reducing the time I spend responding to questions that often go over the same ground.
1. EDS – What Is That?
Ehlers-Danlos Syndrome (EDS) is a genetic disorder that results in weakened connective tissue. Connective tissue is the glue that holds the body together ("think of it as the Force, Luke. It holds the universe together"). It is in your ligaments, your skin, blood vessels, your stomach and your bowel, your uterus and your eyes. In short in anything that is not bone.
2. What Does EDS Do To The Body?
When you have EDS it can impact a large portion of the body:
- Your ligaments – and thereby your joints. Without stable ligaments, joints slip and slide in and out of places resulting in micro-trauma, subluxations (it pops back in by itself) or dislocations (you need help resetting). This can include your ankles, your knees, your hips, your wrists, you shoulders, your back, your neck and even your jaw
- Your eyes – retinal detachment and myopia
- Your jaw/teeth – TMJ and loss of teeth (after all, your teeth are rooted in place via ligaments). Periodontal disease is common
- Your heart and your arteries – death by aneurysm is common in one EDS variation where the average life expectancy is 50. In other forms of EDS, low blood pressure and fainting occurs because your blood vessels ‘stretch’
- Your stomach (some patients cannot tolerate aspirin or ibuprofen – the stomach wall lining is too fragile). Bowel ruptures can occur. Constipation and other motility (movement) disorders. Gastroparesis (paralysis of stomach = inability to process food)
- Your uterus (again possible ruptures) , pregnancy complications and urinary incontinence
- Often your ribs flex and dislocate or the lining next to your lungs is inflamed
- Your back
- Your skin – poor wound healing and scarring. Heavy stretch marks (something I had even as pre-teen with no history of weight lost/gains).
- your throat – inability to swallow and acid reflux
(I am sure there are more, but let’s keep moving)
Now luckily, not all of these symptoms happen to every patient – in fact there are 6 types of EDS. There is only one genetic test for one the 6 types (the most severe form called Vascular EDS or Type 4). The other types are matched by doctors as best they can via observation and detailed medical history.
3. What Have I Got?
In my case, when I was diagnosed a few years ago, I was told I had ‘benign hypermobility syndrome”. They called it benign because it was not life threatening. I had suffered dislocations and unexplained joint pain over 7 years - first in one knee, then the other. The pain then spread to my hip, my ankles, my shoulder and then my wrists. After being in physical therapy constantly for 7 years, I was finally referred to a rheumatologist, diagnosed and then told there was nothing they could for me. (“You could have the thighs of Arnold Schwarzenegger and it still would not fix your knee problem” Okaaay?, I thought. Then I realized: Eeeeew! Arnold Thighs!)
At the Mayo Clinic, I was able to get a more definite diagnosis – because of some skin involvement, I was told I had “EDS Type 3 (hypermobility)." I was once again told that this was not life threatening, but I needed to have an echocardiogram every 5 years (for the possibility of aortic dialation) and I might experience severe osteoarthritis later. In the meantime, practice good ergonomics, do my physical therapy and take anti-inflammatories and I could expect to have a normal life span.
4. Ooops, They Didn’t Tell Me
What I didn’t expect was that I would start to experience some of those 'other symptoms'
In the past three years I have experienced:
-Joint pain and dislocations in every large and small joint in my body (except for my right wrist. Go right wrist. Go. Or rather don’t go. Just…stay in place).
- Loss of muscle tone as a result of not being able to walk or exercise without pain
-Gastritis from use of anti-inflammatories.
-Gastropareis (inability to process foods) – first as a result of taking one or two pain pills, now on regular basis
-inability to take any pain meds regularly due to said gastropareis/gastritis
5. On The Daily Level
What this means on a practical basis is the following:
-If I sit too long (more than 20) min, my knees begin to slide out of position and start to hurt
-If I sit with straight legs (say in recliner), my lower back is strained
-If I stand or walk for more than 20 min, my muscles strain so hard to keep the joints in place that they become fatigued. Then I experience hip, knee, and ankle pain.
-My typing skills are poor because of wrist and finger problems
-I cannot sleep the night through – because when I roll onto my shoulders they shift out of place (and I wake in pain)
-I have switched to a softer diet to reduce the strain on my jaw. I often eat strained, liquid or soft food to help with digestion
-I have no consistent and effective means of pain control
-Driving is tough because my knees and shoulder and wrists hurt. Sitting as passenger in the car is also painful.
-I often get cranky and tired and confused from the pain – I misspeak and forget things as my body struggles to process the pain signals and the lack of sleep.
-I now have to use more and more assistive devices to get through an ordinary day: wrist braces, orthotics, rolling walkers, wheelchairs and power scooters. And even then, this does not prevent the debilitating pain.
-In short, I am unable to perform even the most basic 'daily activities of living' without help - and always in pain.
6. But…But…But … I Saw You Doing X Just This Morning!
Well it boggles me too. I still look normal, I often feel OK and I can move and walk and lift light objects. But then an action I've done thousand of times before ("Reach for a glass of water, pop your shoulder. Take a step and watch your kneecap swing in the wind") can result in excruciating pain. Sometimes, as the day wears on, the pain increases because my joints and bones are shifting and slipping in ways too small to notice. And then there are the times that I wake the next day in pain with no real link to what I did the day before that might have caused the injury. This makes it very hard to avoid doing what might cause pain. It also means I cannot reliably and consistently sustain any type of activity without it resulting in debilitating pain.
7. On Rubber Bands And Grandparents
One EDS patient explained it to me this way: ‘our bodies are like elastic waistbands or rubber bands. After being stretched over and over again they lose their strength and give way.’
If you look at the list above, you may also recognize symptoms that your grandparents or older relatives are experiencing as they enter their 70s and 80s (urinary incontinence, constipation, retinal detachment – those granny ads on TV make sense now).
‘Sometimes having EDS is like being an 80 year old in a 43 year old woman’s body.’
I am considered one of the lucky ones – having the mild or ‘benign’ form. Something for which I am grateful every day. Really.
*This is not the definitive or even medically accurate overview of EDS. I’ve oversimplified many medical issues to help clarify my points. More can be found here.