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Chances' Choices Sample Chapter |
Scene I: Michelle is saved by the starving bacteria
Stacy and Paul Chance are referred to the genetics center because their newborn daughter, Michelle, had elevated phenylalanine levels as determined by newborn screening. The diagnosis of phenylketonuria (PKU) is made.
The couple wonders why their child was tested. They have two other children, Alan (age 6) and Frank (12) who are apparently healthy, active, intelligent boys. The couple couldn't remember any special testing that either boy had at birth. State mandated newborn screening is explained to them. A description of PKU and its inheritance is provided, and dietary management is discussed.
Paul denies his contribution to his daughter's condition. He is a successful businessman, proud of his healthful lifestyle. He doesn't smoke, he jogs six miles a day and he enjoys a healthy diet. He attributes Michelle's condition to a "weakness on Stacy's side of the family" and refuses to believe that he has any "bad genes."
The genetic counselor mentions that everyone carries an estimated 6-10 "unusual" recessive genes which cause no clinical problems in the carriers, but if two carriers of the same unusual recessive gene were to have children together, each child would have a 1 in 4 chance of inheriting the recessive condition for which the genes were responsible.
Paul is relieved to know that being a carrier neither reflects negatively on his manhood nor does it isolate him from his peers. He quickly turns the situation to his advantage and states, "Well, if we're all carriers of some bad genes, I guess I'm better off than most of you. At least I know what one of my unusual genes is." Stacy does not try to defend herself against Paul's earlier accusations but is relieved at his acceptance of the cause of Michelle's condition.
The further complication of maternal PKU is mentioned. Paul and Stacy are scheduled to meet with a nutritionist, and follow-up appointments for monitoring blood phenylalanine levels are made.
Upon leaving, Stacy thanks the genetics staff and says, "Well I guess we won't be seeing you again for a long time."
Little does she know...
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SceneI: PKU |
Chances' Choices |
SCENARIO |