Friday, April 10, 2009

The Genetic Twist

Sometimes a Hero is born for a specific challenge. It doesn't make their job any easier or more appealing. In fact they too will refuse the call -- few want to face the tests and the enemies, and no one wants to go to the Inmost Cave and face the Ordeal. However, when the Hero is born for the task, there is no way to avoid it.

I had an appointment at the Maritime Genetic Centre yesterday, where I met with a genetic counsellor to start the process of determining whether I carry a genetic mutation known as BRCA1. This mutation has been linked to a significant increase in the risk of developing breast and ovarian cancer ("BRCA" stands for breast cancer). Knowing whether I have this genetic mutation will help when I make surgery choices. Many women with BRCA1 opt for preemptive surgery and have not only the impacted breast completely removed, but also the unaffected breast and ovaries -- significantly reducing their chances of redeveloping cancer.

The first step was having my blood drawn. The Genetic Centre is at the IWK, and you would think people who take blood from children all the time would be better at it (at least that was my thought). Not so. This was the worst experience I've had of someone drawing blood. It hurt. She missed the vein and it felt like she was poking around with her needle. I've had so many health care professionals compliment me on my prominent veins that I know this has nothing to do with my veins being too deep or hard to find.

The blood sample will go to either a lab here in Halifax or one in Montreal where they will look at the DNA sequencing. The sequence is represented by a string of letters -- TCCGGGTAA, etc. When they examine my DNA they already know (based on findings in a paternal aunt) they are looking for "AAdel" or an area in the gene where an AA sequence is missing. The DNA strands are very long and the process can take months to complete. In fact it is very rare to have the results available for someone making decisions about surgery, because surgery is often the first step in the process. Because my treatment plan was reversed, it is working in my favor. The normal wait time just to get an appointment at the Centre is 1-2 months, but I lucked out and got one almost immediately because they had a cancellation.

I received two cards in yesterday's mail. Once from the Southville Church of Christ and one from former neighbours of Rob -- Irma and Vernie.

I found yesterday exhausting -- information overload is my guess, and not sleeping well Wednesday night. I tried napping but was too restless; as a result I crashed last night. With the sun shining and Rob off work today, I'm looking forward to taking the dogs on an easy walk -- maybe along one of the rail beds.

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