wanted to share this article from a young woman with Osteogenesis Imperfecta (OI, or Brittle Bone Disease), as OI is a disease that I also have. Jim
My Story: Miss Glass. Osteogenesis Imperfecta didn’t stop me from playing sports in high school, and it won’t stop me now
Blast Magazine | article by Lisa Newman | August 2013
The movie “Unbreakable” came out when I was 12. I watched it with a certain level of fascination. I knew what the villain’s disease was. I had heard of it many times in my life. This portrayal confirmed my own vision of how I had imagined people with the disease: confined to a wheel chair and unable to do simple activities, an outcast. Apparently I wasn’t the only one with this misconception.
In my 25 years of life, I have broken 18 bones. The first one happened before I had even made my official debut in this world. I was born with two black eyes, a cone head, bruises all over my body, and a broken collar bone.
About a year later I broke my second bone. My leg got stuck underneath my body going down a slide, resulting in a spiral fracture, and I learned to walk with one of my legs in a cast.
A finger, a wrist, a couple of bones in my foot, some more fingers, a foot again, a wrist again, and some toes would follow. I’ve spent countless hours in emergency rooms, radiology rooms, and orthopedic surgeons’ waiting rooms.
The possibility of me having Osteogenesis Imperfecta (OI, or Brittle Bone Disease) was first brought up at birth. Doctors performed some sort of test (I obviously don’t remember it and my parents can’t exactly recall what was involved either) and they concluded that I most likely did not have OI. As I got older and continued to break bones, another sign of OI became obvious. The whites of my eyes, or sclera, were tinted blue. It’s something that both friends and strangers have noticed.
Doctors continued to both ask me about OI — “has anyone told you that you might have it?” — and dismiss the idea. I heard repeatedly that most people with OI have it so severely that they are confined to wheelchairs. One doctor told my dad that she had patients with OI that would break a bone walking down the hallway. I was active. Not only did I play sports, I played ones that were especially rough on my body. I competed in gymnastics for 10 years and danced for 12. Besides, they told me OI was hereditary and no one in my family had it. I was probably just clumsy.
My parents were told not to worry about it, and so for the most part, they didn’t. They paid for visits to the ER, x-rays, and co-pays. They sat with me for hours in waiting rooms. Once, my mom and I waited an hour in the examination room to see an orthopedic doctor. We were in room number 10 and it became a running joke with us that room 10 was for patients that they were putting off until last, the ones that they saw entirely too much of.
Often the complications from my broken bones went beyond wearing a cast for six weeks. One of my fingers had to be re-broken. The doctor gave me the option of being put under anesthesia, having my hand numbed, or just breaking it. I told him to just break it. I was more afraid of a needle than a broken bone.
Another finger needed surgery to ever operate again normally. I had never had surgery and was so nervous going into it that I passed out right after getting an I.V. in my arm. After that I would struggle with white coat syndrome for years. Not easy for someone who was constantly in and out of doctors’ offices.
I soon learned the process of breaking a bone and navigated it in a certain way to save myself time and hassle. At first, my parents would take me to the ER as soon as I injured myself. We would wait there for as few as three hours and as many as eight. We rarely left with anything conclusive. Usually the verdict was that I might have a hairline fracture, but they couldn’t be sure and I should follow up with an orthopedic.
Once I did receive a conclusive report from the ER. At the big 8th grade dance I jumped off the stage with some very short heels on. Nothing twisted, but I was immediately in a lot of pain. I went through the usual routine. The ER took x-rays and said it was not broken. I had probably just torn something. This was also fairly normal for me so I left, went to Rite Aid, and bought a generic brace. For a month I walked around with this brace and instead of feeling increasing relief, it started to get worse. I could barely walk at all and the pain was shooting up my knee. I made an appointment with an orthopedic. He looked at the original x-rays from the ER and told me that I had been walking around on a broken foot for a month. I was lucky it was healing correctly but it would take twice as long to do so. I bypassed the ER after that as much as I could. I would go to an orthopedic immediately.
About four years ago when I graduated from college, moved out of my apartment, and into a new part of the city, I had to find a primary care doctor. I could no longer see doctors at Northeastern University’s clinic. I sat in my new doctor’s office and told her my medical history. After I was done she asked me a question that I had heard many times before: “has any doctor told you about OI?” I explained to her that I had been told that I probably didn’t have it.
“What a coincidence, then, that you’ve broken 16 bones in your life.”
She also noticed my blue sclera. “Have you had any trouble hearing?” she asked.
This was a new question for me, and a timely one. About six months before this visit I had noticed that while lying on my left side, everything sounded muffled. My right ear wasn’t functioning properly. When I told her this, she felt that she had heard enough to finally diagnose me with OI. She explained to me that people with OI often suffered from hearing loss because the tiny bones inside your ears began to deteriorate. She then sent me to an Otolaryngolist, or an ENT. They performed a hearing test and an MRI. To them it was obvious I had OI, my inner ear bones on my right side were almost completely deteriorated.
I had been told so many times, “don’t worry about it.” Take calcium supplements and be careful, but you’ll be fine. Now a doctor was telling me that there was more to the story. My hearing would continue to get worse and I had about a 60 percent chance of going completely deaf. Maybe I wanted to talk to someone about hearing aids? At 21, I just wasn’t ready.
Since then I’ve done some research on OI and learned that a lot of what I believed and a lot of what I had been told was a myth. More than 50 percent of people with OI have type I, the mildest form and the kind that I have. There are eight types of OI. The worst is type II, a disease that kills its victims in infancy.
I also learned that a person can get OI in two different ways. It can be passed on from your parents, but it can also be the result of a spontaneous gene mutation. The genes affected are not even the same ones. The calcium supplements I have been taking have probably been doing little good. The gene that is affected in spontaneous mutation is one that determines how your body produces collagen, not how it processes calcium. I also learned that people with OI bruise easier. I’m notorious for having mysterious bruises. My mother worried for years that something was seriously wrong. People with OI also tend to have respiratory problems, something that I’ve always experienced. At one point I was diagnosed with athletic induced asthma, even though I had never actually had an asthma attack and my breathing problems were not always linked with athletic activity. Many people with OI are never diagnosed, or diagnosed later in life because their symptoms are mild.
I continue to see an ENT and will soon purchase my first hearing aid. While at 21 I thought they were strange, my hearing loss in my right ear is getting worse and starting to interfere with my life. Conversations are often short or confusing and it takes a lot of effort for me to listen to someone who is soft-spoken. The tinnitus alone is enough to drive me crazy. Just like a person who is missing a limb can sometimes feel it itching, my ear compensates for lack of hearing by producing a constant buzzing, called tinnitus. The quieter the room, the louder the buzz.
At first I felt cheated by not being diagnosed earlier. My excessive and severe bruises would have made sense. My breathing problems would have been explained. But I’m also grateful that neither my parents nor I ever acted as if I were fragile. My friends and family often joked about my breakability, but my parents never held me back from leading an active lifestyle. I was never afraid to ski down a mountain or give it 100% on the field hockey field. I would never have traded a diagnosis for the life I lived. And now that I know I may completely lose my hearing one day, I can make sure to appreciate music as much as possible, and treasure the sound of my niece and nephew laughing. I can prepare for the effects of this disease that I didn’t know I had.
http://blastmagazine.com/2013/08/23/my-story-miss-glass-osteogenesis-imperfecta-didnt-stop-me-from-playing-sports-in-high-school-and-it-wont-stop-me-now/
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