Thursday, February 26, 2009

Well Within Normal Range

I got the results back this morning of my genetic test. I had to leave the house at 8:00am, which is a time that I'm normally asleep these days, and it would've been unpleasant except that it snowed about an inch and a half in the night and the sun was out this morning and everything was glowing white and lovely. And my genetic counselor lives by U Village, so she was able to get in just fine to the UW Hospital: a happy coincidence of a patient and a practitioner with easy commutes. Lots of people were late or not coming at all today.

I did note, as I walked briskly and unencumbered along the corridors of UWMC 8SE, that the last time I was in this wing—late July of 2008—I could barely walk at all along the corridors, let alone without a walker. Let alone without oxygen. Let alone briskly.

Anyway, it turns out that I do NOT have a gene mutation in BRCA1 or BRCA2. That is, the testing company (Myriad, which holds the patent), did not detect any mutation. I then asked what a mutation actually is, and this is what I found out:

Say that a gene is a 1,000 page book. When you're looking for a mutation, the first thing you do is to read the entire book looking for misspelled words. It used to be that if you didn't find any, you'd assume the book (gene) was normal. In the last four years or so, an additional test has been developed, which is called "gene rearrangement." In this test, the book (gene) is read to see if all the parts come together in a coherent way. Is Chapter 1 at the beginning, and Chapter 2 next, etc? Or is Chapter 8 first, and then Chapter 1 in the middle of Chapter 10, and Chapter 4 at the end, way past the epilogue and the acknowledgements? All the words can be spelled correctly, and the book can still not make any sense (and let's assume the book is a standard beginning-middle-end narrative, not some structureless postmodern creation designed to turn our understanding of the world upside down).

Even if a mutation is found, where in the gene it is found is at least as important as the mutation itself. For example, a mutation can do something as benign as change the color of something. Let's say the car is supposed to be red, but the mutation turns it green. The car is still perfectly functional in green (note: we are currently not creating modes of transportation genetically. This is not the world of Battlestar Galactica, with the robo-biological Cylons. It is just an example.). The mutation could, however, change the information used to form the amino acids (building blocks of healthy tissue), and thus the wrong amino acid is formed, causing something to malfunction in the system. I guess, with the car analogy again, it could be a mutation that only allows the engine to race at 6500 RPMs (which would be bad for driving in first gear), or the brakes to fail if the car is going down too steep of a hill (which would be bad for driving in Seattle). I'm not real clear on this: for more, check out Wikipedia (of course).

Anyway, what this means for my family is pretty much nothing. A positive test for a mutation would have suggested that my mother, or my female first cousins, or my brother's future children, might be at some elevated risk for early onset breast or ovarian cancer. But all this test shows is that I am, still, anomalous. Even if it had been positive, my mother would still have to have been tested to see if it had come from her, or had started with me (in which case, of course, it ends with me, too). But no, nothing.

There is one other genetic test that may shed more light on my situation, but my genetic counselor thinks there is maybe a 1% chance that it will (nevertheless, she will contact my insurance company to see if they will pay for it, and if they will—I say test away). This particular gene mutation (maybe PI 10 or 53 or something??? I can't remember, and didn't write it down) usually shows up in families that have multiple early cancers—childhood onset, and brain and bone and organ cancers, etc. Also, people carrying this mutation tend to have white spots on the palms of their hands and around their mouths, and have abnormally large heads. My head is somewhat large, I would say, but my counselor measured it, and it is well within normal range.

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