Having an undiagnosed disease is a terrifying experience. It calls into questions one own sanity and mortality, and reduces us to dependents.
Such a tale is detailed in last weeks NYT Magazine titled “What’s Wrong With Summer Stiers?”, a permalink to this article can be found here. The article takes the reader through the byzantine path that patients and doctors must walk to identify a new disease, all of which must happen before a cure can be considered.
From a classroom perspective the article moves very smoothly from patient doctor interaction to complex genetic analysis of Ms. Stiers genome. More information on the genetic methods described can be found here, at the NCBI’s Primer series.
This is definitely something that I will give to my Pharmacogenomics class. It is well written and it draws the reader into a very tough area, while introducing some complex ideas.