2nd Place

 

Jillian Pesce

Smithtown High School East

Teacher: Ms. Maria Zeitlin

 

 

The crack of the gavel echoed throughout the courtroom. The decision was made. The single mother sitting at the defendant's bench saw her infant - and her former life - being ripped from her shaking hands. Adding to the stress of her recently diagnosed Huntington’s disease, the judge now ruled her incapable of caring for her child based on the Child Protective Service’s report that her preliminary chorea, dystonia, and dementia were progressive (A. Pesce, personal communication, January 10, 2016). HD is more than a definition in a textbook; its many implications affect the personal lives of 30,000 diagnosed and 200,000 at risk Americans [4]...

 

...Today, modern genome sequencing is used for diagnostic, presymptomatic, and prenatal testing, each requiring intense counseling beforehand. Specifically, presymptomatic testing requires rigorous procedures to solidify the patient’s understanding of the situation. Not one, but two counseling sessions are required, as well as a period of time to contemplate the situation independently. 33% of patients do not return after the first visit [7]...

 

...Despite differing environmental stimuli, between 42% and 73% of the variance in developmental age is due to CAG length, with longer lengths associated with earlier onset [7, 10]. However, in a study done at Brown University, the onset of HD in monozygotic twins occurred seven years apart despite their identical genetic codes [3]. Because of epigenetics’ influence, the genetic test for HD is not completely clairvoyant when predicting age of onset...

 

...For adolescents, however, testing can be traumatic and I agree with the American Society of Human Genetics that it should be avoided until adulthood “because of the complexity of the potential impact of the information at formative life stages.” Since no prevention or treatment exists today, testing has no therapeutic relevance and can even harm an adolescent’s mental well-being by inspiring feelings of hopelessness...

 

...Supporters of presymptomatic testing say that the anxiety faced by at-risk teenagers is enough to justify their decisions for testing [6]. Since HD is autosomal dominant, those with one diseased parent will inherit the mutated gene 50% of the time. As if at the flip of a coin, their future unfolds, but they may not realize that both positive and negative results can yield grim outcomes.