Ehlers-Danlos Syndrome? Could you, uh, spell that?

So for all my discussion of the experience of aided mobility, I thought I might devote this particular post to the thing that landed me the aided mobility experience in the first place: a genetic disorder called Ehlers-Danlos Syndrome.  Being diagnosed with Ehlers-Danlos Syndrome is like winning the genetic lottery.  It is rare. Rare. Rare.  It affects approximately one in 15,000-30,000 people, which means that unless a medical professional specializes in rheumatology, orthopedic or neurosurgery, or genetics he or she has probably never seen it.  And she may have only heard of it once. In medical school.  Twenty years ago.  Ehlers-Danlos Syndrome (EDS) is indeed a medical zebra.

Here are the facts: EDS is the result of an inherent flaw in the part of the DNA that controls the production and development of collagen.  Collagen is found just about everywhere in the human body from our hair to our inner most internal organs.  It is largely responsible for our structural integrity and stability, and is especially prominent in the parts of the body that stretch, such as the skin, the blood vessels, and the soft-tissue of the joints.  There are at least ten different types of EDS, some more dangerous and rarer than others. For example, one of the rarest types of EDS is the vascular type.  In this type of the syndrome the defective collagen is almost entirely confined to the blood vessels, making them especially prone to rupture and difficult, if not impossible, to repair.  Very sadly, patients with this form of the disorder have a significantly lowered life expectancy, with some not reaching the age of fifty.  And indeed, if non-specialist physicians have heard of EDS this is the type of EDS they have heard about, and probably rightfully so, as it is the most lethal.  Indeed, as soon as the words “I have Ehlers-Danlos.” leave your lips they usually begin demanding to know whether or not you have the vascular type.  Sometimes the process of reassuring such spooked physicians that no no you have the hypermobility form of the disorder takes up so much of your office visit that there is often little time left to discus the problem that really needs to be tended.  But I digress.  The point is this: EDS affects collagen.  Collagen is everywhere.  And no matter what type of EDS you have, you will feel its effects.  And unfortunately eventually you will not be able to ignore those effects. You will have to pay attention to them, because you will find that they interfere with almost everything you do or want to do in one way or another. And that is brutally frustrating. Period.

While EDS may be rare in the general population, as a (mostly) autosomal dominant disorder (Only one copy of the defective gene is needed for the disorder to manifest itself.), it is not rare within an affected family.  For example, I have EDS Hypermobility Type (formally called EDS Type III), which is the most common and the least lethal form of the disorder (Although ironically, since it affects the joints and the skin almost exclusively is also one of the most disabling form of EDS, but again, I digress).  My mother also has EDS Hypermobility Type.  So did her father.  And so did his four brothers.

What does this all mean for us, in general?

Fortunately, our major blood vessels aren’t affected, and as a result we all have (or had) normal life expectancies.  My grandfather and his brothers all passed away in older age as a result of illnesses entirely unrelated to EDS.  But.

Our skin is fragile.  We bruise easily.  We are more prone to scraps, tears, and blisters.  Both my mother and I have scars on our elbows from nasty pressure blisters we acquired just from having our elbows on the table.  That’s right; I have ended up with skinned elbows from forgetting momentarily about EDS and resting my arms on a table for too long while having a beer with friends.  See what I mean when I say it interferes with everything?  Part of what makes EDS skin so prone to trauma is its excessive stretchiness.  Flawed collagen makes skin painlessly loose, and demonstrating this can be a good party trick with the right crowd.  But. Excessively stretchy skin, when traumatized, does not heal as well as normal skin.  Therefore when you have EDS your wounds, no matter how tiny, take longer to close, which makes you more prone to infection (not to mention unpleasant/unsightly scarring).  So, it is wise to avoid any and all unnecessary surgical procedures.  And this can be difficult, because Hypermobility EDS, after the skin, most severely impacts the joints.

Most individuals with Hypermobility EDS are EXTREMELY flexible.  They can bend and contort their bodies in ways that mere mortals could only imagine.  Or could only accomplish after A LOT of serious yoga.  In one’s youth, this can actually be an advantage, as it frequently endows one with a high level of agility.  It is not uncommon to hear someone with Hypermobility EDS say, “Oh yeah, when I was a kid I used to be a top-notch ballerina/gymnast/swimmer/diver/pole vaulter/circus performer, etc…”  Unfortunately, very unfortunately, although are joints have a lot of give, our defective collagen makes the soft-tissue of the joints, like the skin, especially vulnerable to trauma.  It also means when these tissues are traumatized, they don’t heal as well.  They tend to scar and become even floppier than they were before.  They also tend to degenerate much faster than normal joints.  Osteoarthritis usually sets in at a young age, sometimes as early as the early to mid-twenties.  (Most normal adults do not feel the affects of osteoarthritis until their fifties or beyond.)  And eventually some joints wear out altogether requiring one or several replacements.  And this is where the whole fragile skin as contraindication for surgical procedures becomes a problem.  Also, and perhaps most importantly, at least from the perspective of someone with EDS, all this trouble with the joints means pain.  Sometimes a little pain that is mild but annoying.  Sometimes moderate pain that feels grating.  And sometimes pain so severe that you just have days where normal functioning is down right difficult.  And as an added delight, hyper-flexible, weak, damaged joints are more prone to dislocations.  Some people with Hypermobility EDS have had so many such dislocations that they give up going to the doctor to have them put back into place; they learn to do it themselves.  Sounds crazy I know, but it is true.

And then. There are the bones.  The skeletal system has a special place in my heart, because had my EDS not affected it, I would not probably not have been born with spina bifida, and I might not have needed a mobility aid just yet.  So. The bones. Bones too are comprised of collagen, and although they seem immobile, they actually have more give than you might think.  But again, defective collagen affects the structural integrity of the body’s bone work.  And for example, in the womb, when a fetus with EDS’s spinal column is just beginning to form, there is a much greater possibility that those delicate bony structures will not form or come together properly, leaving the spinal cord vulnerable and exposed.  And while these bony defects may not be accompanied by open skin, as are more severe cases of spina bifida, the internally exposed cord is nonetheless vulnerable to  damage and ‘tethering’–getting caught between improperly formed bony structures, scar tissue, or fatty tumors that form around the bony defect and then stretched by gravity’s downward tug as the child grows toward her adult height.  Tethering–i.e. catching and pulling–causes immediate and irreversible damage to the spinal cord.  If it is discovered when it first occurs (i.e. during childhood growth spurts), expedited surgery can be performed, which can sometimes prevent further damage.  Although. In EDS, such surgery is controversial, because the tissues are more easily damaged from surgery, scarring–both internally and externally–tends to be more prominent, and ‘re-tethering’ seems to be more common.  So if you have spina bifida and a tethered cord as a result of EDS, you are certainly at risk for long term neurological damage that may affect one or both legs and the muscles of your pelvis, whether or not you have a surgical intervention.  This is, in short, what happened to me as a young woman in my early teens. And this is now, why I walk with the aid of a forearm crutch.

So. There you have it.  EDS in a nutshell.  Next post, I return to the Motherland. I promise. The Evil Aid recently accompanied me on the overnight train from Moscow to St. Petersburg and went everywhere with me as I trekked around Russia’s northern capital. I not only have stories to tell. I have pictures.

 

 

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