This is Ehlers-Danlos Syndrome Awareness month and since I have Ehlers-Danlos Syndrome (EDS) I thought I should write a post about it.
Several physicians have said to me, "When you hear hoofbeats, think horses, not zebras." They are taught this dictum in med school, and it means that when a patient comes in with a complaint you first think of the common causes for their symptoms; a cold for a sore throat, an allergy for hives, arthritis for bone pain etc. rather than the exotic, like yellow fever, or beri-beri.
The problem is, I'm not a horse. I'm a zebra.
I am to quote many a physician, "Complicated."
Having one "rare" disorder is enough to discourage many physicians from taking any interest in you, but I have three, laid over a background of childhood polio. Much to your relief we are not here to discuss any but the last one I had diagnosed.
It's also the one which gives me the most trouble right now.
EDS is caused by a genetic mutation leading to either a lack of collagen production, or defective collagen. Collagen is a group of proteins found in the muscles and connective tissues, and the main component of tissues that support, connect, or separate different organs of the body. It is found in tendons, ligaments and skin, and is also abundant in the cornea (eyes), cartilage (ends of bones), the bones, blood vessels, the gut, and the discs between the vertabrae.
Collagen underlies the:
• Storage of energy
• Protection of organs
• Structural framework for the body
• Connection of body tissues
• Connection of tendons, bone etc. to muscles
It's clear from even this short description that being collagen deficient is not a particularly good idea. It's rather like being forty sandbags short of a dike when the water rises around your house in a flood. The water doesn't look at the 2000 sandbags you filled and piled so carefully, it simply finds the weak spot and suddenly your grand piano is floating in three feet of muddy water.
When EDS patients talk it's often of how to cope with the unending and severe pain they suffer. The muscles and the fascia that hold them together are fragile, and sustain many small rips or tears during even normal daily activity. This means constant deep muscle pain for many patients.
But pain is also the result of being "bendy", or in medical lingo "hypermobile". Joints move too far, they jump the rails and either partially or completely dislocate with little or no provocation. Turning over in bed, or pulling on a T-shirt can dislocate shoulders, a sneeze can subluxate (partially dislocate) ribs.
I have always been extremely hypermobile. On the Beighton scale I score 8 of 9, even at an age where a 3 will get you diagnosed. I can place my palms together behind my back in what is called "the backwards prayer" pose. I can turn my feet entirely around so my toes face backward. I can bend my thumbs down to touch my forearms, and all my fingers will bend backwards to a 90 degree angle to my hand.
But this slippery joint business also means one of my neck vertebrae slides forward just enough to entrap the nerve to the right side of my face, so it feels like I have a nail in my eye and a toothache in every tooth on that side of my head. My right hip slides too far sideways with each step, and my crooked spine has trapped my sciatic nerve so that if I walk too far, or climb steps, I get lightening bolts of pain from lower back, down through my abdomen, hip, knee to my foot. Picking up bags of groceries, or vacuuming, subluxates my shoulder and neck and I'll have a migraine for two or three days afterwards.
Another EDS marker is thin, transparent or extensible skin. My veins are easily visible through my skin, and blood draws are a nightmare because my veins are so fragile they rupture, collapse, or lack the surface tension needed to allow the needle to penetrate. Blood vessels are prone to rupture, vascular tumours are common, surgical sutures tear through, and scars widen and assume a thin "tissue-paper-like" appearance.
However, I'm lucky, as I have a relatively mild case. Many are far worse off than I am. I know of children who are wheelchair bound at eight or ten because they are too loosely-jointed to walk. There is no treatment, other than supportive bracing and pain control, which many doctors, including my own, are reluctant to prescribe in adequate amounts. So you eke out the pain meds carefully, trying to get by without them whenever possible. And the pain becomes just one more thing to contend with.
You can't tell an EDS patient by appearance. Patients look perfectly healthy. So many, like me, slip through the diagnostic net for years, even though I showed dozens of doctors how hypermobile I am. I had vascular tumors and blood vessel ruptures and difficulty with scarring, and though the diagnosis was suggested by a young resident during rounds after I had an arterial rupture in 1975, it was rejected as "too rare".
I was only diagnosed three years ago, when I was 64, by an absolutely wonderful woman GP, who noticed my odd scars and hypermobility on her own. The diagnosis was confirmed by a geneticist just recently.
Thank the Cosmos for the web where as "zebras" those with rare disorders can congregate and graze slowly across the virtual plains, talking to each other, finding comfort and safety in a herd that is not made up of horses. And for a place where we can write and educate patients and doctors who may know little (or nothing) about EDS, and may not recognize the symptoms for what they are. And thankfully as someone joked the other day, physicians now often leave the exam room to consult "Dr. Google", who keeps the world's largest repository of medical knowledge. Gotta love the innerwebs, the "zebras" best friend.