The results of my genetics test have been revealed: DNA Finding: APC, EXON08, c.847C>T, p.Arg283X, Heterozygous, Pathogenic Official Diagnosis: Familial Adenomatous Polyposis Apparently, the “T” in the c.847C>T should be a C. Who knew the alphabet could cause such troubles. Of course, this is me being a bit jaded. It was not unexpected, … Continue reading Result: Positive.
The strange combination of words couldn't more suitably capture the essence and purpose of the session. The Genetics Counselling discussed everything about FAP and how my life will be in the future. There are 3 aspects of genetics counselling worth knowing.
"Polyposis Coli," he repeated again with patience, but I was still not understanding him. We went back and forth like this a good three or more times. I wanted to be sure I would remember what he was saying in my fuzzy state, knowing I would not see a report. Continue reading