Osteogenesis Imperfecta

After an incredibly memorable summer in Dallas, TX and Newport Beach, CA, I am proud to say that I will inevitably be returning back to my roots and settling down in California.  Now that I know I will be exclusively applying to PA programs in Southern California, I will not have to take the much dreaded course, Organic Chemistry!  Hooray!  This semester I am taking Physiology (for science majors!) and Genetics.  My class load seems sparse, so I plan on filling the gaps by working at the psychiatric research clinic and volunteering.  

Let's start with some physiology.  On the first day of class, my teacher wrote, "Osteogenesis Imperfecta" on the board and asked us to tell her what we thought it meant.  I rose my hand and answered, "Imperfect creation of bone."  Translated literally, I was correct but I didn't really have any idea what causes the disorder or its specific symptoms.  My teacher went on to explain that Osteogenesis Imperfecta is also known as Brittle Bones Disease and that she, in fact, has this condition.  She shared this personal medical history with us because she stated it will at times affect her teaching.  I feel like I owe it to her to spend a few minutes researching this disorder and sharing it here. 

According to PubMed Health, Osteogenesis Imperfecta (OI) is a congenital disorder (present when you are born) that affects the gene that produces collagen, one of the fundamental tissues found in the body.  OI is Autosomal Dominant so if you managed to obtain the OI gene from a parent who is affected by the disorder, you will also inherit the condition.  There are a number of symptoms associated with OI, but all those affected by the disorder have brittle bones and are susceptible to fractures.  People with OI are often below average height, have early hearing loss, bowed legs and arms and scoliosis or an s-curvatures found in the spine.  One trait I found especially interesting is that the sclera, white of the eye, has a blueish tint.  

The prognosis depends on the type or severity of one's OI case.  Those with a mild case such as my teacher, will likely experience fragile bones, blue scleras, early hearing loss, and height impairment, but will ultimately live a normal lifespan.  Good news for my Physiology teacher!