Dear God, Why?
“The whole genome SNP analysis detected an interstitial duplication of the chromosomal segment listed above.” This was the first line of a very complicated report on genetic testing for my daughter, Johanna. This was not an email I wanted to read before Iʼve had my cup of coffee. Recently, I was in a discussion with the geneticist who ordered these tests. As he rattled off terms like those in the sentence above, I bit my tongue not to say; “Itʼs all Greek to me.” This renowned doctor is Greek, so I didnʼt think the expression would impress him. At this point in the progression of Johannaʼs disease, we are seeing more debilitating effects on her brain and her whole body. When she was first diagnosed with cavernomas in her brain, there was only one article in a medical journal. Then five years and numerous brain surgeries later, there were a [...]