It Happened To Me: I Have Osteogenesis Imperfecta (Or Brittle Bone Disease)

I am fragile enough that where you will sprain an ankle, I will probably break it in two places; where you tripped and took the landing on your wrist, I crushed the end of my radius.
Publish date:
December 22, 2011
healthy, medical mysteries, osteogenesis imperfecta

My left ankle aches a lot this winter. It's been painful off and on since I shattered it 13 years ago while walking on some gravel. I'm used to it aching off and on, but this time it's not fucking around: Arthritis is settling in.

It's not my only old injury and it's only going to get worse.

Soon it will make a home in my reconstructed left elbow (shattered, age 10), my reconstructed right shoulder (multiple fractures and rotator cuff detachment, age 33), my reconstructed right wrist (shattered, age 34, leading to the longest night of my life, post-emergency surgery in a French hospital -- read on), and eventually in most of the other 40-odd healed fractures I've had.

Truthfully, I don't actually know how many bones I've broken. A lot?

I have Osteogenesis Imperfecta, Type I. Our old friend Wikipedia has this to say about it: "Osteogenesis imperfecta (OI and sometimes known as brittle bone disease, or "Lobstein syndrome"[1]) is a genetic bone disorder. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen.[2] "

This is what Samuel L. Jackson's character in "Unbreakable" has, as does the hero of Lois McMaster Bujold's Vorkosigan Saga, and Mass Effect's character Joker (Hi, Lesley!) claims to have "Vrolik syndrome," another old name for OI.

Most people haven't heard of it, and that's not too surprising; it occurs in only about 1 per 20,000 live births. Of those, roughly 50 percent have Type I, one of eight subtypes that define not only the kind of collagen problem, but related symptoms and issues that come along for the ride.

For me as a Type I, OI means that my body doesn't produce enough collagen, which is the building block of bone. I am fragile enough that where you will sprain an ankle, I will probably break it in two places; where you tripped and took the landing on your wrist, I crushed the end of my radius.

My assorted associated issues include asthma, poor muscle tone, loose joints, and most significantly, early-onset hearing loss: I became severely hearing impaired almost overnight at age 31.

Fortunately, I escaped another condition associated with OI: Dentinogenesis Imperfecta (yes, cringe here: brittle teeth).

In fact, as a Type I, I'm actually close to as mild as it gets on the OI scale. Other Types can be fatal at birth or lead to severely shortened lifespans. Some OI patients cannot shake hands or easily put on clothing. Many OI patients use a wheelchair and are less than 4' tall.

Some patients go through a "rodding" procedure during childhood, where a bone that is growing too bowed is cut in several places and placed along a rod to encourage it to grow straightened and to control fractures. And someday they'll finally invent that admantium skeleton ...

You cannot tell that I am an OI patient by just looking at me. I am 5'9" and I'm fat. I go to an office in Silicon Valley where I'm a Web Producer. I have a husband and two cats. I get around on my own two legs (limping a bit lately), haul groceries up my stairs, walk a quarter mile to the local pool to swim laps, and do pretty much what most people do day to day.

You'll never see me skydiving, of course, and while I was more active when I was younger and healed faster and better, at 37, roller-skating, skateboarding, ice skating, touch sports, running, and bungee jumping are all right out, for obvious reasons.

A bike ride is probably not a great idea, either.

I move a lot slower than you do, though, and I probably did not hear every word you said, even though I'm wearing big purple BTE (behind the ear) hearing aids that you can't see under my hair.

If you were to look closely at my eyes, though, you'd probably notice that the whites are blue-gray: My sclerae (the white of the eye) are blue, because OI causes them to be thinner than normal, causing the underlying veins to lend them color.

This, in fact, is what led my Pediatrician to a diagnosis of OI when I was about three and had had one too many unusual fractures.

I seemed like a normal energetic toddler, but where other kids were taking lumps and bruises after running into Grandma's coffee table, I was taking broken arms and legs. The first fracture I recall having was before age 5, when I jumped off of my bed pretending to be Wonder Woman. My mom swore she heard the bone snap.

I mostly remember being surrounded by the firefighters who came when my mom called the emergency service (I don't think we had 911 yet, then) and having my leg wrapped up in something like bubble-wrap before being whisked off to the hospital.

After that, during my childhood, there was the collarbone (rolled out of bed in my sleep), the pinky (caught in a swingset), the elbow shatter (fell off the monkeybars), the ankle (fell off the seawall at the lake in Michigan, while my elbow was in a cast), the ankle again, and again, and the arm, and the other arm, and so many more that I don't recall or possibly didn't even know about (hello, hairline fractures!), like the vertebrae in my back after a tumble backward down the stairs (I was bruised but I didn't think I was broken; usually I'm right).

At the time, so little was known of OI that parents of OI children could suddenly find themselves fighting child abuse charges and CPS for custody of their brittle children.

I spent most of a hot, sweaty childhood in Phoenix, Arizona itching inside a series of plaster casts, and I often drew attention wherever my mother took me. I was a bright, outgoing child, with curly red hair, probably noticed as much for my antics as my injuries. I'm sure there were those who harbored suspicions about my parents when I'd show up in yet another fresh arm cast, or better yet, one on my arm and my leg at the same time.

My childhood in pictures is a study in plaster casts of ever-growing size. Although there is no history of OI in my known family, my parents knew, in the way that parents do, that something was Wrong.

Eventually Dr. Levinson gave them my diagnosis of OI, probably the result of a spontaneous ("de novo") mutation between generations -- surprisingly common in OI Type I -- and from that point on I became a regular participant in the rounds of new residents and classroom-in-the-office Medical students at my local hospitals as a medical rarity.

There's a lot for them to see. Due to fractures requiring internal fixation and reconstruction, I've acquired a number of impressive scars over the years, along with a crippling fear of hospitals, doctors, needles and surgery.

The older I get, the more battles my body has been through, the easier this gets, but surgery is still a major source of anxiety for me (the breaks themselves, not so much, since you can't really anticipate and thus dread them).

I originally got my first tattoo in part because I wanted to get over my fear of needles. Turns out, the two don't really cancel each other out! Go figure.

I do, however, love my tattoos, and I've developed quite a high tolerance for pain, so I'm actually covered in a fair bit of ink now, and am preparing to cover my left arm in a sleeve. If you ask nicely, some doctors will actually do their best to save your ink when they have to carve you up to put your little eggshell bones back together.

I've had a lot of bad breaks, and a lot of bad hospital experiences, but it turns out what made the worst hospital experience was not about a bad doctor, or a needle, or even time to dread an oncoming surgery.

What I found was that if you are in France and have to have emergency surgery two days before you are supposed to go home, and you have to get yourself to the hospital the morning after shattering your wrist in front of hundreds of people on the Champs-Élysées, you don't have good painkillers, you have to fight with your travel insurance and your employer's insurance and the French hospital's admitting staff after you get there, you have to explain your condition and beg for them not to cut your tattoos in your terrible half-fluent French, and then spend the night with no friends or family post-surgery in a blazing hot room in Paris in July with two moaning old ladies and no a/c, then dress in your sweaty clothes again early the next morning and find your own way home: then, THEN, will you wish for death.

Surgery scars, lost hearing, broken bones, asthma: I'm actually OK with it all. Not that I don't wish my life was different: I have to watch nearly every step I take, stairs are a Big Deal, every time (and I live up two flights), I need closed captioning and inhalers, and my life expectancy is likely below my family's average (early 90s, no shit).

But whatever. This is my body and I have to live in it. I am living with an invisible disability, though, so if you see me clinging to the handrail as I navigate the stairs (even slowly and sometimes in front of you) please do me a favor and don't make me move away from the rail. If I look like I'm carrying a potentially dangerous load or need a hand across that uneven pavement, please ask me if you can help.

And if you want to know how I got that wicked scar, that's cool too: Just speak up when you ask.