bootleg blogging

October 25, 2012

Hey all, 

since some of you have complained you are having trouble signing in to read the medscape blog I posted on Facebook. Here it is – bootlegged. 

*** This is directly from the blog I write for “The Differential”, which is part of Medscape Connect. 

Genetic Disease: Would You Want to Know?

Rosalyn Plotzker, Medical Student, 10:32AM Oct 13, 2012

 

 

I wore a patient gown for the first time in a year. It was cotton. I wrapped it around myself twice to compensate for its size, along with the deficit of clothing underneath.

The women’s health practitioner sat across from me in the exam room. I wanted to be in her place – both next year as an intern, and at that exact moment. I am more comfortable as the clinician. But, at that exact moment, I was the patient. I rambled the details of a year’s worth of health: the vitamins I took; the UTI last spring plus the URI last winter. She jotted notes on my chart. Today I felt fine. I even felt a little courageous. My residency applications were in. I liked my sub-internship team. All the tiny victories of daily life were aligned.

Next we reviewed my family history. (It’s infused with medicine – my father, uncle, and grandfather are all physicians. But instead, obviously, we discussed my family’s legacy of disease). On one side, my grandmother is 96 years old. On the opposite side, my grandmother is unknown to me. I inherited her name in exchange for losing her to breast cancer when she was in her 40s. Given a third family legacy – Ashkenazi Judaism – I wondered if I would also inherit her fate.

The pair of known BRCA genes are two great genetic discoveries. In 1990, BRCA 1 was identified as a caretaker gene on chromosome 17. When expressed in the breast tissue, it’s partially responsible for repairing DNA. More specifically, the associated protein joins others to form the BRCA1-associated genome surveillance complex, which then assists RNA polymerase II in mending double stranded DNA breaks. BRCA 2, on chromosome 13, likewise helps in double stranded break repair. BRCA 1 is more than 100,000 base pairs long; BRCA 2 just over 84,000. There are plenty of opportunities for the building blocks of DNA to be toppled. In the case of the BRCAs, mutations are passed from generation to generation, rather than occurring spontaneously. 

This is amazing from the point of view of a medical student. It’s a beautiful example of the interconnectedness between our genome and our bodies, between our heritage and our health, and between family history and disease risks. This is terrifying from the point of view of a patient. It’s an example of the double edged sword of inheritance; it demonstrates the helplessness implied by the power of our genetics. 

The clinician and I chatted – white coat to blue gown, doctor to student, woman to woman. It was obvious to both of us what should happen. A bulk of the conversation revolved around insurance coverage of genetic testing. Finally she left the room. She returned minutes later with a kit in one hand and a pamphlet in the other. 

The form was white and purple, and I filled it out with a black pen. I signed where I should have printed my name. I checked a box that I shouldn’t have. She said not to worry, it was fine. The phlebotomist arrived. She strangled my bicep with a tourniquet, and we watched a precise stream of blood rush into the collection tube. I do not faint at the sight of blood, mine or anyone else’s. I watched the red meniscus rise, in wonder and in horror at how much information about me can be contained in such a small amount of liquid. The phlebotomist left. I changed into my clothes. Then I made an appointment for October 30th to find out the result, and went to the subway.

That night I had a glass of wine while I wrote a quick note about the experience on my personal blog.

A few days later I received a message from a friend: “Hello Roz!!! I just read your last blog post. Many belated hugs. I’m wondering, if you don’t mind me asking – why you decided to take that blood test – i mean, what will change for you either way? what will you do differently/ feel differently/why do you want to know if there are no preventative measures really – and also, as we are aging and dying more everyday anyway kind of thing? I know – big question – but truly curious.”

Enormous questions. Right now, I don’t know. Things will change when I find out the results, I’m sure. For BRCA positive people there are options for surveillance – earlier and more frequent imaging studies, possible preventative surgeries, those kinds of things. Regardless, neither knowledge nor ignorance will change the turning genome ladder within each of my cells; the molecular blueprint of “who I am”. But aren’t we more than that? And shouldn’t self discovery be pursued, in order to live our lives to their truest extents? Apparently, big questions prompt further questions. Perhaps I’ll get more than one answer on October 30th.

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One Response to “bootleg blogging”

  1. Miriam Says:

    It’s better to know in a case like this, I think.

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