I am disabled

[Update: I am now much less disabled, hurray!]

Most of my friends know this already, but it’s time I made a public statement.

I am partially disabled, permanently.

I will become more disabled as time goes by. The most visible effect is that I have cut way back on my travel. International travel is so painful that I do it only when absolutely required.

I have Ehlers-Danlos Syndrome, type I or II (genetic testing hasn’t discovered my exact variant yet). I was diagnosed at a UCSF research facility based on a physical exam and the medical histories of myself and some of my family members. I am grateful I don’t have type IV, which often results in early sudden death. Instead, I have normal life expectancy, I’m just disabled and in pain starting a couple of decades earlier than the usual aging process.

I’ve done a lot of research on Ehlers-Danlos, and I’ll explain it in more detail later in this post. But first I want to say what ED means for me. It means I’m in pain most days of my life. It means sometimes I can’t walk more than 20 feet (once I had to beg someone to bring me a rolling chair so I could get to the bathroom and back by myself). It means that travel for more than a few hours causes me intense pain, and takes me several days to recover from. It means I sprained my ankle 40 times and broke it twice before I had surgery to stabilize it. It means any time I attempt to exercise, sooner or later I injure something that won’t stop hurting without a week of bed rest. It means I can’t work a “desk job” because I can’t sit at a desk without pain.

Ehlers-Danlos is a disorder affecting certain types of collagen. Its outward signs include flexible joints and soft, sometimes stretchy skin. People with ED often injure themselves easily, dislocate joints repeatedly, scar badly, have organ prolapses, and experience other wonderful symptoms.

Initially, ED just made me exceptionally flexible. As a kid, I excelled in gymnastics. I could always touch my toes – actually, put my palms flat on the ground. I was incredibly active as a kid and teenager: besides gymnastics, I rode and trained horses, slung 80 lb bales of hay around, carried 80 lbs of hot water at a time to the animals on cold mornings, and hiked. I was very proud of being strong and took every chance to lift boxes or carry things.

The first sign of trouble came when I sprained my ankle as a teenager, so badly I fractured it. I followed the physical therapy instructions carefully and thought I had recovered. Then I sprained my ankle again, stepping off a curb. And again. And again. Four sprains in one year.

The doctors kept telling me that I needed to strengthen my muscles. My calves were already huge and I was a weight-lifter, but I followed their instructions anyway. Another sprain. I bought every ankle brace on the planet. I sprained my ankle while wearing the different braces. I bought enormous hiking boots. I sprained it wearing the boots. (I remember now that I bought a pair of “nice” hiking boots to wear to my first Linux conference because I was too ashamed to wear my regular boots.)

Eventually, 40 sprains later, I had surgery to stabilize my ankle. I’ve had zero sprains since then, for which I am hugely grateful. I never knew when I would be walking around on my daily business and suddenly fall on my face and be stuck in bed with an ice pack for a week.

It’s been like that ever since, just with different parts of my body. Once I’ve injured a ligament or other connective tissue, it never completely recovers. Some things they know how to fix, others they don’t. Most of the time I am misdiagnosed or treated incorrectly because they assume my ligaments will behave like normal people’s.

Right now the worst is a recurring back injury that I first got on the way home from a Linux conference in New York City. That injury has no fix, so I have to avoid aggravating it. This means no sitting in most chairs, limited standing, no lifting, no carrying things on one shoulder (not even a MacBook Air!), walking only a few blocks at a time, no running, no bicycling. I re-injured it a couple of weeks ago and had to teach a workshop wearing a back brace, before going home to spend a week on the couch.

It’s been 4 years since I was diagnosed with Ehlers-Danlos Syndrome. It’s taken me that long to begin to accept the new me, and the changes in my life. I did stupid things like hike the Grand Canyon when I was in between injuries because I thought that hey, maybe I had this thing licked, I was strong enough now to avoid injuring myself. I was wrong.

This blog post is one more step along the path of acceptance. While I still believed that I would get better at some point, I tried to hide my disability. No point in telling people about something that’s going to go away, right? Now I’m realizing that it’s a downward slide. By taking really good care of myself, I can slow things down. That means letting people know that I can’t fly to Switzerland for a talk, that sitting in an office chair for 8 hours puts me in pain the entire next day, that I will never, ever take you up on that skiing trip.

I’m disabled.

A note on the mechanics of Ehlers-Danlos

There’s kind of a cool application of combinatorics in Ehlers-Danlos. The deal is that collagen proteins are made of 4 pieces, arranged like a capital ‘E’. The backbone is made of one protein subunit, and the 3 short arms are made of 3 identical protein subunits. The collagen protein only works if all 4 pieces are correct.

What happens in Ehlers-Danlos is that one of your two copies of the gene that makes the proteins for the 3 short arms is bad – it makes a deformed protein. So half of the short arms made are bad. When the collagen assembles itself, it randomly acquires 3 short arms from the available supply, which is 50% good subunits and 50% bad subunits. There are 8 equally likely possible arrangements:

GGG BGG GBG GGB BBG BGB GBB BBB

The only one that actually functions correctly is the GGG arrangement. So 7/8ths of the collagen your body produces is unusable, and ends up recycled or digested or otherwise thrown away by the cell protein checking mechanisms.

Having only 1/8th of the usual supply of a particular collagen type (there are several different types of collagen, and different Ehlers-Danlos types are related to defects in different collagen genes) is surprisingly unnoticeable for some collagen types. If you have Ehlers-Danlos type IV, the walls of your arteries and organs are weakened and you are often die suddenly of an aortic aneurism or ruptured bowel or something similar. More obscure types of Ehlers-Danlos have pretty awful manifestations. But in most cases, the only obvious sign is flexible joints.

Read more on Wikipedia.

2 thoughts on “I am disabled”

  1. Wow, that’s helpful to know. Insight is good. Thanks for sharing.

    Is there any upside to pain? For temporary pain, it can heighten appreciation for the non-pain state. But I’ve never heard of an upside to persistent pain.

    I’m sure we’re not the only ones who wish you could be at every conference, every event. In light of this post, it’s more of a “she’s here in spirit” type of thing. It’s not that you’re choosing not to go. It’s just not an option.

    It’s wonderful that you have found a way to contribute meaningfully through the Ada Initiative. (Persistent pain can so easily suck all the desire to contribute right out of a person.) Go Val!

  2. I have EDS (hypermobility type/type III, but with some Classical type symptoms). It’s one of the reasons I ended up doing any open source work since I can do most of what I do from bed on a laptop as long as my brain and hands are functioning at the time (both are iffy). Since these days I was only diagnosed in 2010, but I’d suspected since 2007 and been having problems for pretty much as long as I can remember. I started using a wheelchair part-time in 2004 which is the only reason I managed to finish college. I think the fact that I started having such severe problems long before I had a diagnosis made the diagnosis easier to cope with since I was long past expecting a fix. The only reason I manage any conferences at all is because I can either bring my powerchair or rent one in most places. My doctors would probably prefer if I didn’t do any conferences at all, but they understand that a couple weeks a year of acting “normal” (I tend to make it to Ubuntu Developer Summits and that’s it) is a trade-off I’m willing to make despite the month of recovery time.

    I just wanted to drop a line to say that you’re not the only EDSer in the open source world. You don’t know me (although we have mutual acquaintances), but I wanted put the offer out that I’m more than happy to talk if you want to talk to another woman with EDS.

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