Monday, June 9, 2014

Court Hearings, Chorionic Villus Sampling, Cystic Fibrosis, and Catalina

I'll probably look at least a little more legit tomorrow than she does, but I won't be quite as cute.


Tomorrow I'm going to court to assist PseudoAunt. It's just a sentencing hearing for a bank embezzlement case. It's pretty routine and there's not much for me to do unless PseudoAunt has to run out of the courtroom to throw up, in which case I will sit in the second chair and try my hardest to look really  official, or as official as a  nineteen-year-old who looks fourteen can look, anyway.

The Catalina trip begins when we leave for Los Angeles in order to  board the boat on Tuesday morning. We'll come home Friday afternoon. We're poor and can't afford to charter our own boat, so we have to drive a considerable distance to the nearest harbor with commercial service to Catalina.

PseudoAunt is having a chorionic villus sampling procedure on Tuesday to rule out the presence of cystic fibrosis in the baby. She won't abort if the baby has it, but she doesn't want to worry for the duration of her pregnancy about it, and she'd rather know from the outset if that is what the baby will face.  There are still a host of other problems that can potentially present themselves, as in any pregnancy, but cystic fibrosis is what she's worried about because she has the phenotype and her husband cannot be ruled out as a carrier. He does not have the most common CF-causing genetic mutation, which is the F508del - the mutation most commonly present in  northern Europeans who are carriers -- but there are too many other mutations for which to test at this point.. Any baby the mother produces will inherit the CF allele from her and will be, at the very least, a carrier. If the father is a carrier, the baby will either inherit the allele from him and will have the disease, or will inherit the normal allele and will merely be a carrier. By the time the baby is old enough to be a parent, genetic testing should have advanced to the point that its carrier status should be far less a concern than it presently is.  Chances are that everything will be fine, but expectant mothers have been known to worry, sometimes even excessively.

I was invited to view the procedure, but I declined. We could have moved the Catalina trip back a day with no major hassles. That wasn't really the issue. Neither is squeamishness the issue. If I'm going into medicine, viewing a routine procedure like chorionic villus sampling had best not sicken  me, as I'll be spending a large part of my first year of med school examining and performing procedures on cadavers. I admit to being just a bit squeamish about the cadavers, but it's part of the deal and I'll just have to get used to it. As long a I don't look at the face and recognize the cadaver, it will probably be fine. In any event, my choice not to view the chorionic villus sampling procedure is simply that I don't see how my presence will improve the situation in the least. PseudoAunt will have her husband and brother there for support.  She has the most skilled practitioner for the procedure in the entire area. Complications are rare, and she's an excellent candidate for the procedure for various reasons, but it doesn't seem as though filling the surgical suite  with useless bodies would weigh the odds in the favor of a safe outcome. I'll observe the procedure in med school when I don't know the patient.

I hope you all are enjoying nice weather. The sad thing is that I'm probably leaving the nicer weather of my home for slightly less pleasant weather on Catalina. C'est la vie. Sometimes one just needs a change of scenery.

3 comments:

  1. Enjoy your island escape. I look forward to hearing your cadaver adventures. In my anatomy days we "owned" a cadaver for a year below the neck then a new one for six months on the head and neck.

    We dissected as a small group in our so-called spare time then every week we had viva- voce exams on our cadaver with our tutor. Just as well if you have a good memory.

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    1. The island escape was overcast but great.

      Tell me about YOUR cadaver adventures.

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  2. When I was a senior in high school, we visited a medical school and the tour included the gross anatomy lab… One of my classmates almost fainted because one of the cadavers looked like her grandmother.

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