Saturday, April 19, 2014

Week two/ chapter two and three


     This week I found many topics of interest that stood out to me and that were relatable. One topic though, was fresh in mind due to a class I took last quarter. The course required me to do a research project on genetic counseling. I learned the roles of a genetic counselor as well as the different tests that can be performed; in order to determine a mutation in a gene. I found the information I learned to be fascinating but also noted that there was much more to learn about diseases or disorders and their hereditary links.  I liked how this week’s reading elaborated a bit on genetic disorders, gave an example of a couple’s story and talked about prenatal diagnosis and treatment.
      I was my mother’s six child and she had me at the age of forty. The risk of giving birth to a baby with Down syndrome for a woman in her early forties is one in fifty. Whether or not she had the knowledge of that statistic prior to her pregnancy with me I am not sure. If she wasn’t informed, I wonder if she had been, if it would have changed her decision of trying to convince at an older age.
      My sibling and I are all in our child bearing years, I have witnessed a few complications that my siblings have experienced with their children’s health that are hereditary. I think that having knowledge of the possibility of genetic disorder or disease is important to a future parent, helping them better prepare to meet their child’s specific needs.

PS- I also found the statists of infant mortality around the globe to be interesting. The contributing factors of Sweden and Holland having the lowest infant mortality rate is also something to think about…

3 comments:

  1. Something I wonder about is whether it is a good thing to have genetic counseling and other tests done. Before I was a parent, I would have said, "Yes." Now that I've had my child, I feel that if I had know what types of diseases or complications I could pass along, I would either have aborted my child to keep from passing along those problems or spent my entire pregnancy excessively pouring over anything that could go wrong. Which, of course, would have raised my blood-pressure to outstanding levels. The testing they have now even can tell you what you have a high chance of dying from. Would that knowledge free us from the unknown so we can enjoy the time we have or hinder our ability to be happy knowing that we are destined to die by a specific disease? Some times ignorance is bliss and yet it's human nature to want our curiosity to be satisfied. I would love to interview people who have chosen to under go these tests to see if they regret finding out.

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  2. Could you please share what kind of genetic tests you learnt? I was intrigued by your comment about age and high risk for developmental diseases, so I researched a little more and found out a great article in Nature magazine about aging and the quality of eggs (http://www.nature.com/nature/journal/v432/n7013/full/432001a.html). It seems that there are new techniques for fertilization that could better guarantee a successful pregnancy and birth for women over 40's.
    And about genetic counseling, I agree with Nikki. It might be an extra stress unnecessary to pregnancy. I think unless there are strong reasons to seek for genetic counseling such as previous miscarriage or consistent disease throughout the family, it shouldn't be accessed. That's my personal view though.

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  3. Nikki's comment reminds me exactly of something a friend of mine went through recently. She was pregnant with her second child and decided to have the early prenatal testing done. Sadly, the testing only tells you if you are more likely to to be affected by something (at least in this case). They told her that her baby most likely had Down syndrome. She was heartbroken and worried so much about what kind of life her child would live. She chose to have the baby and with follow up testing months later found out that her baby did not have Down syndrome. She said if she could do it again, she would not have done any testing. It wasn't worth the stress and anxiety. I feel the same way. I chose not to test. It was not going to change how I felt about the pregnancy and I could deal with anything after the baby was born. I understand that some would want to know so that they could feel more prepared, but personally I felt that passing on less stress to the fetus would be beneficial as well.

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