Osteogenesis Imperfecta affects approximately one out of 15,000 people. In a nutshell, it’s a genetic bone disorder that causes bones to break easily and grow abnormally due to a lack of collagen (the stuff that helps make up your bones, organs, hair, and fingernails). It also causes weak ligaments, hearing loss, breathing problems, and dental issues. The whites of OI people’s eyes tend to have a blue tint, and they usually have a fairly triangularly shaped face and a “pigeon breasted” chest (meaning that the sternum sticks out, giving the torso more of a barrel shape). Because of these unique characteristics, it’s pretty easy to pick someone with OI out of a crowd.
OI can either be passed down from the parents’ DNA or can be the result of a random genetic mutation (like mine). There are several types of OI that vary greatly in severity. People who are Type I often don’t know they have it until they fracture for no apparent reason, usually during puberty. On the other hand, people with Type III (like me), are usually born with multiple breaks and continue to break consistently throughout their lives. People with Type II are even more severely impacted and generally don’t live past early childhood.
My parents and I stopped counting my breaks at 500 when I was about ten. When I was little, all it took was a cough, sneeze, or wrong movement to make me fracture. Like most OI-ers, when I hit puberty, hormones kicked in and made my bones slightly stronger, and my fracture rate decreased dramatically. I probably break once every month or two now, though I still have some pretty consistent back pain due to my severe scoliosis on a daily basis. I’m 2’7″ and use an electric wheelchair for mobility. I have to have an aide with me pretty much all of the time to do things like eat, pee, and move around. I do physical therapy at least once a week to keep my body moving, and I try to swim as much as I can for exercise. There’s a lot of physical things I can’t do by myself, but as you will soon see, I can do more than most people think.
There’s no cure for OI and treatments are fairly limited. One of the most common treatments is a surgical procedure called “rodding,” where doctors insert metal rods into a patients’ long bones or spine to straighten them out and give them extra strength. I have rods in one arm and both legs, and they have made all the difference in the world. Although my long bones still fracture occasionally, the breaks aren’t bad and can’t displace with the rod holding the bones in alignment. The healing process is therefore my quicker and less painful. Doctors can specially make rods for children that telescope, so they grow as the child grows. My legs have telescopic rods and they probably will never have to be replaced unless I bend them somehow (which I have done once, resulting in a quick replacement surgery).
Other FDA approved treatments for OI generally involve infusions of a cocktail of drugs that are supposed to help strengthen bones. Unfortunately there are some pretty gnarly side effects that come with these treatments, thus my parents never opted to give them to me. My mother is a homeopathic veterinarian, so a lot of what I use to treat pain is natural medicine, such as herbs, homeopathics, and vitamins. I’ll definitely be talking more about this in my upcoming posts, but it was great growing up with two veterinarians as parents. Not only did we always have pets, but they were able to take care of most of my breaks without me having to go to the hospital. I can probably count the number of times I’ve been to the hospital for a broken bone on one hand, and the only reason I went those times was because the breaks involved one of my rods, which had to be checked by my orthopedist.
One of the most common questions I get is “Why don’t you go to the hospital when you break a bone? Don’t you need an x-ray to see where it is broken?” Well, when you’ve broken literally a thousand bones, you quickly learn to identify exactly what is going on in your body without any outside diagnostics. I can usually tell exactly how severe a break is and where it is by the pitch of the snap (yes, bones snap when they break) and where the pain is. If I had an x-ray for every bone I broke, I’d literally be glowing from all of the radiation!
People also ask me if I’m in pain all the time. Well, that answer would probably have to be yes, but it’s all relative. I’m certainly not in broken bone pain all the time, but I’m always going to have chronic back pain and general muscle aches. My ligaments are weak, so my joints are not the best either. But when you live with pain like that, you just adapt. I’ve never taken narcotics, but I know several OI people who do on a regular basis. I don’t like the side effects that come with those, and I’ve found that the natural medicine route works for me. I also have a pretty high pain tolerance and have learned that dealing with pain is really a game of mind over matter. It’s a game I sometimes lose and need to take Motrin or Excedrine to get ahead of, but in general, doing breathing techniques and taking natural medicine works for me.
I think this wraps up OI 101. Do you have any questions? Post them below and I will do my best to answer them!