ABSTRACT
When we met Liz Morgan, like many study participants, she had been traveling a long, bumpy road in search of a diagnosis, and consistently coming up “empty handed,” with inconclusive or even contradictory medical opinions. Liz was typical of our larger study population, optimistically believing that if she persevered, she would eventually discover the root cause of her symptoms. But the lengths to which she was willing to go to get meaningful answers were extreme. As we became more acquainted with Liz, we saw her strong sense of determination as she scheduled neurological evaluations at two different specialty clinics (referred to here as Clinic A and Clinic B) during a ten-day period, with the single goal of finally getting a definitive diagnosis, hopefully through genetic testing. We were excited to encounter this rare opportunity to observe how practitioners with similar training working in different clinical settings evaluated the same patient at a common point in time. This fortuitous circumstance, combined with Liz’s willingness to participate in our study “for as long as necessary,” led us to invite her to join our in-depth sample. We followed her case for more than two years.
