Today in our genetics guided learning session, we had an individual with oculocutaneous albinism come in for a Q&A session. Oculocutaneous albinism is basically a condition that affects the pigmentation of the skin, hair and eyes. Affected individuals do have visual problems to the point of near blindness (some need guide dogs, others need walking sticks) and this is often due to the presence of nystagmus (eye moving from side to side constantly such that their eyes cannot focus on a specific point). This is apparently due to the abnormal way their optic nerves are wired to their brain. Also, affected individuals look very pale (since they do not produce the melanin pigment) and cannot be exposed to the sun (they have to put on so much sunscreen and burn within a few minutes of sun exposure). At this point, I'm just imagining not being able to sit on the beach in the afternoon tanning (painful I say!).
What struck me as really surprising and enlightening was this individual's outlook on life. He had SUCH a great sense of humour. He would crack so many jokes - amongst them was the phrase "the blind leading the blind" to describe his blind boss leading him at work. One of my favourite joke of his was him describing the way other individuals (when he was growing up) would tease him, where he replied that he would just proceed to kick their ass "crouching tiger, hidden cripple" style. When he was asked how he dealt with not being able to go out in the sun as other individuals do, he simply replied with "well that's just the perfect excuse to be in an air-conditioned room!" I just sat there in awe. Here was this guy, who had this condition (which is considered a serious medical condition) that he could have let bring him down (he could've complained all his life about how he couldn't go out in the sun, or that he couldn't really go to school because he can't really see). Instead, he is one of the most happy-go-lucky person I've ever met. I can say that there are so many other individuals out there with 5 perfectly working senses who would complain a lot more than he would on even smaller less significant things. On top of that, this patient did not let his condition hold him back from living life to the fullest as he is striving to be a social worker. How AMAZING and TOUCHING is that?!? His powerful fighting spirit deeply touched me.
He is truly the testament to Randy Pausch's quote "We cannot change the cards we are dealt, just how we play the hand." Life is truly and ultimately about perspectives. His case also serves as a constant reminder that medicine is not just about treating the condition, it is about treating the individual as a whole. And it is this human aspect of medicine that I know I will truly find rewarding in the years to come.
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