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1 Sean Martin March 9 2000 Dr Brutlag You are a young female in your late twenties who has just graduated from a highly esteemed law school You have recently been married to your high school sweetheart and the two of you have decided to move into the city to start your lives together Professionally both of your careers are taking off and the talk of starting a family begins to pop up regularly during evening meals Up until this point you have chosen to keep one important secret from your spouse While he is fully aware that your father passed away some three years ago from a degenerative disorder he has no knowledge or background of the disease You decide to inform your husband about Huntington Disease HD an autosomal dominant genetic disorder which is characterized by loss of motor and cognitive functions and tends to have a late onset You explain that there is technically a fifty fifty chance that you may have the disease however for one reason or another you believe the chance of passing the gene to your children decreases because you are a female Your husband is taken aback by this sudden news and you immediately formulate a plan to regain his trust Due to the recent growth in biotechnology a diagnostic test for HD has been discovered While you had decided not to have the test a few years before you now find yourself willing if it will strengthen your relationship with your spouse The two of you discuss the possible positive outcomes with the strong desire for children being a recurring theme However testing positive for HD would clearly change your life in more ways than could be imagined Do you take the test If you said yes go to page 2 If you said no go to page 3 2 You go to a nearby medical center and have the genetic screen performed A few weeks later you return to the lab for your results You find that you have been positively diagnosed with Huntington Disease While your greatest fears have become reality you also feel a sense of relief No longer will you sit up late at night wondering if the disease will eventually consume you Now despite the negative consequences attached at least you know Initially there is a sense of shock pervading the household However as usual your life slowly goes back to normal and you resume your everyday activity as if nothing has ever happened As he claimed he would your husband has supported you through it all You feel ashamed and guilty that you ever involved him in such a tragedy and you sincerely wish there were some way to make it up A few years pass Both you and your spouse have become successful in your professions and your relationship is as strong as ever Several recent victories in the courtroom have you feeling invincible One night at dinner out of the blue your husband raises the issue of having children You remind him of the risks involved with HD and the possibility of conceiving children fated to die of this horrible disease He explains that he has been doing some research on your family and that no female has ever passed on the disease to her child He also describes how important it is for him to have someone with him when you pass on Knowing how much he has supported you through it all gives you a strong desire to concede Plus you feel that having children before you die would somehow make your life complete Despite the possible ramifications do you have a child If yes proceed to page 4 If no proceed to page 5 3 You have come to the conclusion that taking the test is not worth the possible negative consequences Your husband supports you in this decision and together you realize that it is best to hold off on having children After all you can always adopt if the desire becomes great enough The two of you go about your lives as if the topic of HD had never been raised A few years after the decision not to test you wake up one morning with a realization As you are brushing your teeth in the mirror you realize that you have a fifty percent chance of acquiring Huntington Disease sometime within the next fifteen years How could you possibly have been so shortsighted Fifteen years is not a long time and the disease may very well onset in as few as five But wait There are still so many things that you want to do while you still can Suddenly your thoughts shift to your husband He has been so wonderful about supporting you through the hard times and you could never ask him to give up his life because of a simple whim He has had severe worrying bouts at times but he tries his best to stay positive for your sake Taking off suddenly to explore the world may throw him over the edge However you feel a sense of urgency The time is now or never Do you live for moment in hopes that your husband will understand or do you continue on with the life that has brought you so much happiness up until now If you chose to live for the moment go to page 6 If you chose to continue on as before go to page 7 4 You and your husband conceive with relative ease and nine months later you are in the hospital giving birth You both decide against any pre natal testing in fear that it will affect your decision to go through with the birth Much to your surprise you have two healthy male boys Oddly enough this immediately raises a concern If the twins are monozygotic then both will either have the HD gene or neither will However if they are dizygotic twins then both may have it one may have it or neither may have it The doctor informs you that he could test to see which type of twins you have but you again decide against it for fear it may impact the way you raise your children You and your husband proudly take your two boys home The addition of children to your household gives newfound life to both you and your husband For several years their presence alone is enough to quell any worries you have about the onset of HD However at the age of five you begin to notice uncharacteristic twitching in one of your sons Despite keeping a close eye on these symptoms the disease comes quickly You learn that your son has inherited juvenile HD a somewhat rare form that progresses rapidly Shortly thereafter you too develop your first symptoms Slowly but surely you begin to lose control Your final coherent thoughts involve your sons one who is now on the verge of death only twelve years after entering this world the other who must live out his remaining days in constant fear of what is to come You begin to question your motives for ever having a …


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Stanford BIO 118 - Study Notes

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