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Living in the “Yet”: When Genetic Tests Don’t Reveal the Answers You Seek
As a mother, I’ve had to ask myself: What would never getting an answer, or even no longer expecting an answer, look like?
This is a monthly column by Taylor Harris on parenting, genetics, and the quest for answers to medical riddles.
Our body is made up of cells that contain our chromosomes. Chromosomes are made of DNA, which carries the genetic information in units called genes which are passed down from one generation to the next (Figure 1).
Approximately 2% of our DNA provides instructions for proteins, and that 2% is called the exome. When mistakes in our DNA lead to disease, they occur most often in the exome. Once we receive the sample, the lab isolates the DNA from the blood and compares the sequence of the affected individual’s exome with the sequence of the exome from healthy people.
This comparison looks for misspellings, or mutations, that could leave a gene unable to do its job correctly and could be the cause of the individual’s disease.
ButI don’t know if any of this actually matters.
The field is moving so fast, who knows what we will know in ten years,
liminal,what waswhat would be.
So I will hold him tight in this space, and he will curl his head around to softly kiss my elbow as he does some nights, and I will whisper, “Lord, Jesus. We don’t know. Lord, Jesus. Amen.”
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Not knowing happens to all mothers, and to all of us—if we are breathing, we are without escape from things we can’t know.
I Underwent Genetic Testing to Help My Son, and Discovered I Have an Increased Risk of Breast Cancer
What if my son, the boy who has puzzled everyone, has helped to save my life?
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Kids are all mystery, and mine are no different, but the unknown has especially marked my son.
How many days had we spent asking the same questions of God or doctors? How long had we wrestled with conditions that didn’t yet exist?
“Accommodations are things that we need, and deserve, in order to lead our lives. But they’re treated—we are treated—like we’re trying to pull one over on the rest of society.”