I’ve been asked a few times for more information on my chronic illness, so I decided to put it all on a page here.
In November 2008, at age 36 and 8 months, I was definitively diagnosed with Ehlers-Danlos Syndrome: Classical Type. The journey toward this diagnosis began in August 2006, when I first began seeking treatment for generalized pain, but it is a condition I’ve had my entire life. Here are some of the ways in which EDS affects me:
- Hypermobile joints: My joints move more and further than a “normal” range of motion. My knees and elbows can bend backward, and I can do some of the joint tricks you see pictured on the EDS page on wikipedia.
- Flexible skin: My skin is apparently very soft and velvety — I didn’t ever realize, it just always felt like my skin! — and is more flexible than typical. I can’t do the circus-freak skin stretchy tricks, but this does affect how wounds heal and how scars act over time.
- Easy bruising: My skin bruises really easy. At the end of the day, I usually notice a new bruise or two, and I have no idea where they came from. Sometimes it seems like you can give me a dirty look, and I’ll end up with a bruise.
- Increased risk of injury: Hypermobile joints are easier to injure, and I’ve had more than a dozen sprains of each ankle, as well as sprains of other body parts. When a joint moves out of position, it can also cause muscle spasms, muscle strains and tears, or just plain old pain. One example, in November I had an abscessed tooth and had to undergo a root canal, which failed, so then I had to have the tooth extracted. A month later, my jaw finally feels like it’s back in the right position, without causing painful clicks, pops, and spasms.
- Early onset osteoarthritis: Arthritis is the eventual degradation of joints due to wear and tear. The cartilage wears down so that bone scrapes on bone, and this causes pain. My mother had both her knees replaced at age 50. I’m looking at the possibility of knees, hips, and shoulders, probably in about two decades.
- and this is inherited: It’s an autosomal dominant trait, which means it isn’t passed on the sex chromosomes (X and Y). My sister has it, my mother has it, my grandmother has it, my aunt probably has it along with her two daughters, and I’m watching my daughter like a hawk. Each pregnancy carries a 50% risk of passing on Ehlers-Danlos Syndrome to the child, along with other significant risks to the mother.
While this isn’t necessarily a progressive condition, the symptoms related to hypermobile joints do tend to progress over time. Joints wear down, and if I don’t constantly work to keep the surrounding muscles strong and toned to compensate for the flawed connective tissue, then I’ll have more pain and lose the use of those joints sooner.
On the other hand, there really isn’t any getting better or being on the mend for someone with Ehlers-Danlos Syndrome. An individual acute injury can mend (somewhat), but the connective tissue in my body won’t get better. Treatment for EDS is management of symptoms; management of pain; avoidance of activities that are riskier for injury; taking lots of Vitamin C, Vitamin D, and calcium; and specific kinds of exercise and/or physical therapy. I have splints and braces for many joints in the body; while I don’t use them all the time because this would end up weakening the joints further, I do use them when pain in the area is particularly bad.
I am under regular treatment from my primary family doctor, a pain management specialist, a physical therapist, a psychiatrist, an orthopedic surgeon, and a neurosurgeon. In the last two years, I’ve also had consultations with a geneticist, a neurologist, and a rheumatologist. I’ve had four MRIs (shoulder, hand, ankle, brain), an MRA (brain), a lumbar puncture, and an uncountable number of x-rays. I had one rotator cuff surgically repaired and am looking at the possibility of two surgical procedures in 2009 (breast reduction and cervical fusion).
I also have a deficiency of Vitamin D that requires supplementing with prescription-strength doses. It appears that my body cannot convert sunlight into Vitamin D, and I just can’t absorb enough from foods and regular over-the-counter supplements. The levels of CRP in my blood remain elevated at a fairly stable level, reflecting the chronic inflammation of my joints.
In the last two years, we’ve ruled out rheumatoid arthritis, thyroid disorders, multiple sclerosis, lupus, fibromyalgia, Chiari malformation, pseudotumor cerebri, brain aneurysm, and probably a host of things the doctors didn’t even tell me about. When I brought the geneticist’s diagnosis back to the pain management specialist, she celebrated. Her explanation was: When doctors see a patient like you, they automatically think, No one person can possibly have so many problems. But you don’t have many problems. You have one problem, and that’s with your connective tissue. It made a lot of sense, and it really gathers together so many symptoms and questioned diagnoses and times when doctors just threw up their hands and gave up.
Right now, I am very fortunate to work for a company that allows me to telework. This gives me the flexibility to rest when the pain becomes overwhelming, to take the more intense medications without having to worry about driving home later, and to minimize time away due to doctor visits and physical therapy sessions.
I have a handicapped parking placard, so I don’t have to worry about safety when crossing busy parking lots. I’ve learned to count my spoons, because even the simplest things — like being at my daughter’s birthday party where my jobs were to take photos and to sit at the table and watch everyone’s purse while they roller-skated — can take an incredible toll on my body.
You can find posts on the blog related to my journey with this illness through the tags. Here are some of the most frequent ones.
Peace be with you on your own journey.
Updated December 28, 2008
Page created December 27, 2008
