When I was 22 months old, my parents were in the middle of a fight to find out what was wrong with their daughter. My mom (my fight-like-a-girl role model!) visited doctor after doctor and endured multiple misdiagnosis' before finally hearing the word "cystinosis". When she and my dad looked it up (the old-fashioned way – in a medical book at the library), they found that it was an extremely rare metabolic disease that primarily affected children who died before reaching adulthood. With this prognosis in mind, my parents were very relieved when the eye doctor looked into my eyes (one of the ways of diagnosing cystinosis) and declared me free of the disease. After breathing a collective sigh of relief, my parents and doctors went back to the proverbial drawing board. My mom, though, noticed that an ocular diagnosis of cystinosis had to be done with a slit lamp, as the cystine crystals that typify the disease cannot be viewed with the naked eye. Being the fighter that she is, my … [Read more...]
