TBDs: To test or not test.

Abstract

This is a personal reflection on my and my family's experience with Telomere Biology Disorders (TBDs). This reviews the journey from identifying a familial pattern with idiopathic pulmonary fibrosis to identifying a genetic cause and a specific gene mutation. It also discusses the journey for the author from wanting to not know whether they had the genetic mutation to deciding to test for TBD and the gene. The reflection also discusses how I have dealt with the grief of losing my father and sister to this disease.