Duchenne Muscular Dystrophy Ethical Issue (3).docx

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Duchenne Muscular Dystrophy 1. What did you learn? I learned that Duchenne Muscular Dystrophy (DMD) is a neuromuscular disorder which affects the nerves and muscles of an individual, as well as decreased muscle strength; it is a progressive disease that affects children and their ability to walk with an array of other symptoms.(rch.org). DMD is an x-linked autosomal recessive disorder, which is a condition that alters a gene on the X chromosome affecting males; despite males being primarily affected there is no male to male transmission, rather female to son transmission as the females are carriers of an x-linked disorder (genomics). DMD is diagnosed early, typically around ages 1-3 and may come from parental observation of gait problems which may manifest as “toe walking” or waddling, inability to walk or climb stairs, decline in walking after 18 months and may have a delay in speech development (rch). Due to the weakening of muscles, life expectancy is anywhere between late teens to mid-thirties, and death is almost always due to respiratory and/or cardiac complications (book). One critical ethical issue that is raised when discussing DMD is testing unaffected children to determine carrier status when there is an affected child within the family. Current international guidelines recommend that testing not be performed until the child is of an appropriate age, respecting autonomy. As a nurse, and a mom, it is hard to decide what I would want and/or do. Of course, as a nurse, I would abide to guidelines, but a part of me screams that as a mom I do not know what I would want, a part of me thinks that I may want to know the status of my child. However, to what point is that important? If a female child is a carrier, it would not change anything directly until that female was of age to reproduce. So it is feasible to note that waiting until the child is of an appropriate age to understand the degree of their carrier status and what this would mean for their future if they had kids. Educating the
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parents on risks and signs and symptoms of the disorder can help preserve autonomy, as well as include them into conversation.
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  • Spring '18
  • Genetics, carrier, Genetic disorder

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