(osteo=bone) (genesis=creation) Imperfecta is latin for imperfect...
imperfect bone creation. OI is a genetic connective tissue disorder that causes defective bone/skin/teeth/and nail growth. Causing fractures from very mild or no trauma at all. Also called Brittle Bone disease. There are about 8 types, ranging from moderate to severe. I am one of the lucky moderates. Type 1 moderate. Well, when I say lucky I mean as lucky as you can get when the OI gene is in your blood. I am an autosomal dominant and my DNA comes back negative for OI. Genetics are tricky and after two tests one being collagen(12 years of age) and then later as technology grew and I was tested again by blood( 21 years of age), still no answer as to what type, came back once again negative. The conclusion was drawn that BOTH my parents carry a recessive OI gene and out of all the people to meet and have a baby, they did.My blood shows no mutation, because I am a dominant. The result a baby girl born with 6 broken ribs. I am now 22 and have had 30 fractures my spine has a density of -2. in my spine...equivalent to a 60 year old woman. Which puts me into the category of Osteopenia just a couple steps before Osteoporosis. Many back braces and even a full torso/neck cast.
At 22 I am learning to deal, understand, and grow with OI. As a child I always had my breaks and recoveries, but I never thought I was less. I never thought about my future differently than any other normal girl. However after a traumatic car accident in '06 everything changed. Chronic pain had taken over and so did medications for pain. WORST thing I ever did was seek chronic pain medication. Thank God I do not have an addictive personality or things could have been much worse. They are just killers, just plain killers. They are no way to live or lead a life.
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