Lesbian Fiction ForumGood question! And it has a long answer.
Basically, I am a genetic mutant with no super powers.
I have Ehlers-Danlos Syndrome, Hypermobility Type.
Individuals with EDS have a defect in their connective tissue, the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in EDS are the result of faulty collagen. Collagen is a protein, which acts as a “glue” in the body, adding strength and elasticity to connective tissue.
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders, characterized by articular (joint) hypermobility, skin extensibility and tissue fragility. There are six major types of EDS. The different types of EDS are classified according to their manifestations of signs and symptoms. Each type of EDS is a distinct disorder that “runs true” in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.
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Hypermobility (Formerly EDS Type III)
Joint hypermobility is the dominant clinical manifestation. Generalized joint hypermobility that affects large (elbows, knees)and small (fingers and toes) joints is evident in the Hypermobility Type. Recurring joint subluxations and dislocations are common occurrences. Certain joints, such as the shoulder, patella, and temporomandibular joint dislocate frequently. The skin involvement (hyperextensibility and/or smooth velvety skin) as well as bruising tendencies in the Hypermobility Type are present but variable in severity.
Chronic joint and limb pain is a common complaint amongst individuals with the Hypermobility Type. Skeletal X-rays are normal. Musculoskeletal pain is early onset, chronic and may be debilitating. The anatomical distribution is wide and tender points can sometimes be elicited.
To date, no distinctive biochemical collagen finding has been identified by researchers. The Hypermobility Type of EDS is inherited in an autosomal dominant manner.
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Affects 1 in 10,000 to 15,000 and is caused by an autosomal dominant mechanism. Mutations in either of two separate genes (which are also involved in Vascular EDS and Tenascin-X deficiency EDS, respectively) may lead to this variant; it is the only type of EDS that cannot be diagnosed through skin / tissue samples but is rather diagnosed through use of clinical observations. Symptoms can include easy bruising, velvety-smooth skin, mildly hyperextensible skin, and loose, unstable joints. Joint dislocations and subluxations are common. Degenerative joint disease can occur; the pain associated with this condition is a serious complication. Some individuals have mitral valve prolapse, which creates an increased risk for infective endocarditis during surgery, particularly dental surgery, as well as possibly progressing to a life-threatening degree of severity of the prognosis of mitral valve prolapse.
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Basically, collagen is in every cell. It makes a cell hard (such as the cartilage in your ear) or soft (such as skin). It also makes things elastic (such as ligaments and tendons) or stiff (such as the cartilage in your nose). In people with Ehlers-Danlos Syndrome (EDS), and particularly with people with Hypermobility Type (HEDS), there is too much elasticity. Ligaments and tendons stretch too far and compromise joints. Larger joints, such as shoulders and hips, are frequently subluxed (partial dislocation) or dislocated. Smaller joints such as fingers, bones in the hand and feet, etc, move too much and begin to erode. This all leads to chronic dislocations/subluxations, osteoarthritis, muscle spasms, etc.
Some people with HEDS experience very little pain. My grandfather was a tallish, skinny man who could put his feet behind his head. He had some body pain but not very much. More as he got old, of course. My mother was never physically active and never developed muscle tone needed to hold her together. She dislocates joints easily and has chronic pain because of it. I grew up on a farm and was in decent shape. I was relatively “normal” until I was 15. I had a surgery that caused a limp which caused my body’s balance to get messed up. I know of a woman with HEDS who was almost finished with boot camp when she fell from a ladder and shattered both ankles. The months of using crutches messed up her shoulders and the limp messed up her knees and hips.
There is a theory that the chronic pain associated with HEDS is somehow related to the fascia in what is called “myofascial pain syndrome” but is often confused with fibromyalgia. Fascia is the stuff that covers everything in your body. If everything but that were removed, you’d have a perfect 3D image. They don’t know why the fascia of HEDS patients hurts other than it is made of collagen (and other stuff like proteins and fats).
I have chronic pain. It never ever goes away. Never. Some days are better than others and I can walk to the mail box and back without getting tired or create pain. Other days, I can’t get out of bed. I use a wheelchair because of the damage to my hip sockets, knees, and ankles. I use a power chair because my shoulders can no longer push me without subluxating. I can only use one forearm crutch because my right hand and shoulder can no longer support me. Too many times the shoulder has “popped” and I’ve fallen. The chair prevents falls and eliminates a lot of pain. My hips are not happy being in a sitting position all the time, though, but my current chair has “tilt” which allows me to take the pressure off my hips without having to get out of the chair and go to bed. I have a headrest that allows me to rest my neck. My migraines are caused by me turning my head too many times or bending it too long. I have to be careful when I read a book to ensure I have the book high enough that my head is not bent. I have to sit directly facing the television to make sure my head is not turned at all. My laptop is on a tilted table to raise the screen high enough that my neck isn’t bent.
Some people, like my mom, are “floppy”. They can bend their bodies in unbelievable positions. Then there are people like me, whose muscles are constantly tensed in an effort to hold everything together. This means that falls, stumbles, etc. result in some muscle damage because they are already tense with very little room for error. My physical therapist and I laugh a lot at our efforts to make my body relax more which seems counter intuitive for someone with my disease. When my muscles spasm, they tend to really mess me up. It is like a wave goes through my body. I wrench my shoulder so my shoulder muscles tense even more. Then my neck and upper back muscles react. Then my lower back and chest muscles. And so on. I take muscle relaxers on a regular basis to try and calm them down and when I hurt myself, I take more to lessen the pain.
So, there you have it. The basics anyway. I don’t mind questions or comments. EDS has made me who I am. I have accepted it (for the most part) and have certainly accepted my chair. Some people see life in a chair as a horrid thing. They would rather die. Not me. Using a chair gave me my life back. The level of pain I am in now is significantly less that what I was in before I started using one. And I cannot imagine the level of pain I’d be in if I didn’t have one now.
Some day, they’ll figure out which gene is responsible (HEDS is the only type they’ve not figured out yet) which will lead to a cure. Some day.
I realized I left something out. I do, and can, walk. I use a single forearm crutch and it takes me a while to get to where I am going. I don’t walk often; more in the summer, less in the winter. Walking comes at a price, though. The pain can get intense fast.
Linkages:
Ehlers-Danlos National Foundation (EDNF)
Ehlers-Danlos Syndrome (Wikipedia article)
MedlinePlus article
National Organization for Rare Diseases (NORD) - Ehlers-Danlos entry
Fibromyalgia (Wikipedia article)
Myofascial Pain Syndrome (Cleveland Clinic article)
