Today’s inane image of the day:
 |
| An activity Dr. Bee had us do during class on Tuesday… we placed felt “muscles” over the correct area of one of our dissection group members. |
On Thursday, we had another patient panel. This particular patient is the mother of a daughter with a mild form of OTCase [ornithine transcarbamylase] deficiency. What caused my tears to flow during the presentation was that she watched her first born child [a son] pass away merely days after his birth due to this inherited X-linked metabolic disorder. [Because the mutation is X-linked, and males only have 1 “X” chromosome, they usually present with the full form of the disorder. Females have 2 “X” chromosomes, so they can be asymptomatic carriers and pass on the mutation.]