Writing Evaluation Assignment

By: Shanay Arseneau

When I was three, a routine visit to my family doctor resulted in a referral to Sick Kids’
Hospital to investigate a heart murmur. This simple referral turned into years of tests and
surgeries and a final diagnosis of an extremely rate genetic connective tissue disorder that
impacted the ability for my connective tissue to expand and contract, thanks dad LOL. That
referral started with a simple echocardiogram that found my aorta was much larger than it
should have been for a three year old. My life between the age of three and nine was filled
with echocardiograms, MRI’s (too many to count), angiograms, a not so nice skin biopsy, what
seemed like hundreds of trips to Sick Kids to see many specialists. Throughout the testing and
appointments they had no clear diagnosis, they eliminated every syndrome they could and still
had no diagnosis. Without knowing the diagnosis they were unsure of the treatment. We
knew my aorta would need to be replaced at some point and with daily medication they were
able to manage my symptoms until I was old enough to have an adult sized graft. I had open
heart surgery when I was nine and after six days in the hospital was back home. When I was
finally diagnosed with a genetic connective tissue disorder, inherited from my dad, there were
only three people with the disorder. I still have testing every couple of years and they are still
researching the disorder in hopes of learning more about what my disorder might look like as I
get older. This health-related experience has impacted my life since a young age and will impact
the rest of my life. From the many tests, some painful, to missing a lot of school and being
restricted from physical activity as a child. As I get older I don’t know how this genetic disorder
will effect me, but the research continues.