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.]
I don’t know what I would do if I were in her shoes. I don’t know how I anyone ever bounce back from such a traumatic experience [I guess it’s proof of the resiliency of the human psyche]. And honestly, I don’t know how she could not be skeptical of all physicians because of this incident. Apparently, the healthcare team taking care of her son never documented much of what her and her husband had noted about their son’s changing health status and had never heard of this disorder. Thus, the cause of her son’s sudden illness [he was born perfectly healthy with completely normal lab results] was not discovered until it was too late for her little boy.
The last couple of weeks have really helped me recognize that I am very interested in working with hereditary/genetic disorders/diseases and/or cancer patients. I find the science behind both to be fascinating and the patients, inspirational.
Anyway, it’ll be quiet around here until after Monday [BFCP2 Midterm exam and Capstone exam]. Time to get back to the slides/notecards/session objectives…
Today’s medical school fact of the day: “All mitochondrially inherited diseases are mitochondrial disorders but not all mitochondrial disorders are mitochondrially inherited diseases.” –Dr. Aughton’s lecture slides