This week is Osteogenesis Imperfecta Awareness Week, which is a huge mouthful to get out!
And you know, I’m not a big fan of Awareness Days and Awareness Weeks, but I thought it would be a good opportunity to teach you a little bit about the disease I have, Osteogenesis Imperfecta, or OI for short.
What Is OI?
Osteogenesis literally means “the formation of bone,” and imperfecta, well, that one is pretty obvious! Together, the name “Osteogenesis Imperfecta” means that the formation of bone is imperfect from the beginning of life.
Osteogenesis Imperfecta, or Brittle Bone Disease, is a collagen problem. When we think of collagen, we normally think of the stuff we inject into our lips, right? Collagen is a lot more than that!
Collagen is the material that makes up most of our body, including our bones, but it also makes up our skin, nails, hair, muscles, ligaments, and tendons. It is what allows our bodies to absorb the calcium we take in, making us able to grow and become stronger. OI is a genetic bone disease that causes our collagen to not form correctly, so we are unable to absorb an adequate amount of calcium.
The most obvious symptom of OI is brittle bones. I had broken over 500 bones by the time I was 10 years old. I had broken so many bones that my parents and I stopped counting.
4 Types of OI
But one thing a lot of people don’t know is that there are a lot of different types of OI, all with different severities.
When I was growing up, there were four types, but as science has advanced, there are a lot more now. However, the four main types, based on severity, are still the most common.
People with Type 1 OI look and function relatively normally. They are usually a normal height, and they generally don’t break a whole lot of bones in their lifetime. In fact, people with Type 1 sometimes go undiagnosed for most of their childhood until one day they randomly break a bone and don’t know why. Unfortunately, this often leads to CPS getting involved for fear of child abuse.
Type 2 is the most lethal type of OI. Babies that have Type 2 do not have fully developed ribcages or skulls, which means that their brains and lungs are not fully developed either. If these children are able to be born at all, they often do not live past a few months old.
People with Type 3 OI, like me, are one step above those who are Type 2 in that we get to live for more than a few months, but our symptoms are severe. Generally, we are extremely short in stature, have broken hundreds of bones in our lifetimes, and need assistance completing most of our daily activities. I’ve used an electric wheelchair to get around since I was 2 years old, and I have an aide with me almost constantly.
Type 4 OI is basically a sort of middle ground between type 1 and Type 3, which I know makes no numerical sense at all, but there you have it! A lot of Type 4’s can walk and look relatively normal. However, it seems like the disease progresses more quickly for these people. Eventually they will probably need at least a manual push wheelchair or other aides to walk or move around.
“Fun Facts” About OI
Another misconception about OI is that it only affects our bones. We’ve already established that collagen makes up your whole body, right? So a disease that affects your collagen formation has to affect more than just your bones.
OI can also cause major heart problems, because it affects heart muscle. It can cause major stomach problems, because it affects the fibers that make up your stomach. It can affect your nails, skin and hair too.
One interesting symptom that I have because of OI is hearing loss. The bones in my ears don’t work right due to being deformed and weak. I also have a heart defect. Luckily though, it rarely affects me, and we just monitor it accordingly.
There is no cure for OI, and it is a lifelong disease. Although people with OI CAN have children, there is a 50% chance they will pass the disease on to them.
There are some treatments for OI that primarily focus on pain mitigation, including surgical options, physical therapy, massage and medications called bisphosphonates (they’re like the monthly medicines your grandparents take when they start developing osteoporosis). However, there can be some pretty significant side effects that come with bisphosphonate therapy, which is why my parents chose not to give them to me when I was young.
I have metal rods in my legs and in my arm that go through my bones, making them stronger and straighter. I can still break my legs and arm (unfortunately), but the rods keep the bones from breaking completely apart and displacing. My breaks are now much easier to heal and don’t happen nearly as often.
Another interesting fact about OI is that although we break bones often and it still hurts A LOT, we also heal a lot faster than people with normal bodies.
When you look at a normal x-ray, the bones are usually a bright white because they are full of calcium.
- Well, mine are actually light grey because they have very little calcium in them, and sometimes it’s really hard to see a fracture at all.
- But, because my bones aren’t as solid, they heal a lot faster because there is less there to heal…which is kind of a perk.
- I can break a rib, and it can heal in a week as opposed to the usual 4-6 weeks it takes most people to heal.
Wrapping Up
But that’s just a little bit about what Osteogenesis Imperfecta is and how it affects people who are born with it. I know that was a lot of information for one blog, but OI is a more complicated disease than most people realize!
For our college senior theses, each member of my graphic design class was challenged to create a project that only we could create because of our past personal experiences and individual perspectives.
I chose to write and design my book, Looking Up, and give readers a visual insight into my unique perspective living and painting with Osteogenesis Imperfecta.
Snag a signed copy of Looking Up from my Etsy store for 50% off!