Ehlers-Danlos Syndrome….What’s that?
To sum it up as accurately as I can, daily torture.
“Ehlers-Danlos syndrome is a group of disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of Ehlers-Danlos syndrome, which vary from mildly loose joints to life-threatening complications.” (NIH)
That sounds fun, doesn’t it?
Just wait until you hear the symptoms.
First things first, there are 13 types of Ehlers-Danlos Syndrome. While some are more serious than others, none are easy to live with. For a detailed look at each type, check out EDS Types Chart.
EDS is a genetic disorder passed down within a family, though occasionally the defect can occur spontaneously. This means that those with EDS are born with it, and there is no cure. If you have EDS, there is a 50/50 chance of passing it down to your children. Symptoms often get worse as the patient gets older, and are treated as they appear. However, early diagnosis and taking preventative steps are key to slowing the progression.
Now, before moving onto the symptoms, which I got from The Ehlers-Danlos Society, here’s a little disclaimer.
*Everyone’s experience with EDS is different. Some are mildly affected, where as others are completely disabled. No two experiences are the same, and there are more possibilities of symptoms, as it changes from person to person. These are just the most common found among those with EDS.*
Alright, here we go…
Joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint’s normal range); early onset of osteoarthritis.
Soft velvety-like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas).
Chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse; and gum disease.
I told you it was fun, didn’t I?
Personally, I have the Hypermobility type. It…sucks, but I am beyond thankful it is not one of the life-threatening types.
Honestly, reading that list makes me laugh a little bit. It’s a common list of symptoms you’d find online when searching about EDS, but it is by no means all inclusive. There’s a lot of big medical words, but nothing there conveys the daily struggle.
“prone to frequent dislocations” …Yes, very true…but what the list doesn’t say is that sometimes all it takes is a regular step, lifting a (small) glass of water, a simple roll over in bed, or a hard laugh.
There are not only seemingly endless symptoms that like to present themselves at the most inopportune moments, but there are so many additional conditions that go hand-in-hand. Because EDS is a defect in collagen, and the human body contains 22 types of collagen found pretty much all over your body, things go wrong, and they go wrong fast.
In fact, I can’t think of a system within my body that isn’t affected.
So, we’ve established that Ehlers-Danlos Syndrome can be debilitating, but what I haven’t mentioned is what it looks like.
EDS is, for the most part, an invisible illness. I say “for the most part” because unless the affected individual happens to have a couple of joints dislocated right before your eyes, or covered in various braces to help stabilize their body, you would never know they were sick. We are FRAGILE, we are in PAIN, but we look FINE. Because of this, people with EDS are often mistreated, misunderstood, and not taken seriously.
〈 I am 24… I look 16… I feel 90… 〉
It doesn’t help that EDS isn’t well known, even among the medical community. In my 24 years, I can count on one hand the number of doctors I have seen who have known what EDS is. Apart from the geneticist at Stanford Hospital who diagnosed me, the doctors who did shockingly know what it was still didn’t know how to help me.
Because it is so unknown, it took 21 years to even be referred to a geneticist and properly diagnosed. Prior to this, I was accused by doctors of faking the amount of pain I was in, not exercising enough to keep my joints in place, being anxious (my resting heart rate is generally 120 bpm), and the list goes on…no one understood. No one could help.
People with EDS don’t want pity, they want to be taken seriously. They want to be believed. They want to be treated properly.
In order for this to happen, people need to be aware of what EDS is.
While I’m going to do a series of posts about EDS, I decided to do a basic informative post first. You can be on the look out for my journey to diagnosis, what the truth is behind the words “I’m doing good”, an average day in my life, and more. If you took the time to read this whole thing, I applaud and thank you!