Would a Therapy for Down Syndrome Change Lives For Better or For Worse?

By Sarika Sachdeva

This post was written as part of a class assignment from students who took a neuroethics course with Dr. Rommelfanger in Paris of Summer 2016.

Sarika Sachdeva is an undergraduate junior at Emory studying Neuroscience and Behavioral Biology and Economics. She is involved with research on stimulant abuse and addiction under Dr. Leonard Howell at Yerkes National Primate Research Center.

Researchers around the world are working to develop treatments and cures for all kinds of genetic disorders and abnormalities, but what happens when the people affected by the condition don’t want it taken away? New breakthroughs in treatment are often controversial for non-fatal conditions such as Down Syndrome, which causes inhibited neural communication and leads to learning delays as a result of an extra copy of chromosome 21 (Rochman, 2015).

Recently, a study from the Boston University Medical Center claimed to have identified differences in gene expression that are found in people with Down Syndrome. Previously it was thought that most of the effects of Down Syndrome occurred prenatally, but comparisons between toddlers and adults with the disorder revealed that changes in white matter levels in the brain are actively occurring during development. People with Down Syndrome have defects in their oligodendrocytes, a type of brain cell that forms white matter. This defect causes people with Down Syndrome to have less white matter than unaffected individuals. White matter insulates nerve fibers and facilitates communication between brain cells; thus, decreased white matter formation slows signal transmission and leads to the learning delays associated with Down Syndrome. This finding could be a significant step in the search for a treatment that promotes brain functioning. Instead of working on a genetic cure for Down Syndrome to stop the extra chromosome from ever having an effect, researchers may now shift their focus to finding therapies that increase oligodendrocyte formation and improve neural communication in people with Down Syndrome.

Proponents claim that a treatment of this kind will increase the quality of life for people with Down Syndrome. On the other hand, many parents of affected children argue that their child is perfectly normal and happy the way they are; they say that their children would not be the same if their disorder were removed (Becker, 2016). This leads to two interesting and as of yet unanswered questions: does treating someone with Down Syndrome remove the essence of who they are by affecting their brain, which “skirts close to intervening with the self”? Or would treatment retain the identity of the affected individual but with better cognitive functions (Becker, 2016)?

Image courtesy of Wikimedia

The uncertainty of the aftereffects of any potential “therapy” makes it difficult for parents to accept scientific breakthroughs with enthusiasm; some even say they would be more likely to support research for treating heart problems found in people with Down Syndrome instead of treating the cognitive neurodevelopmental components of Down Syndrome (Rochman, 2015). Even if treatments were to be given only to babies or fetuses with trisomy 21 before their sense of self and consciousness might have had the chance to develop, there are still important ethical considerations involved. Would treating the child make a difference in who they grow up to be, creating some sort of inauthentic self? Would this alteration have any potential risks, and at what consequence is it still worth attempting to prevent Down Syndrome? Because Down Syndrome is not fatal, any viable treatment options would have to be reliable and safe in order to guarantee that the affected individual would not end up with a potentially worse condition.

If we as a society decide that Down Syndrome is something that must be eliminated as soon as possible, we dismiss any immediate concerns about equality and social acceptance for those with Down Syndrome. When we focus on ways to change or alter these diseases, we are ignoring the contributions people with these conditions are making to society and implying that their presence is not valued. At the same time, the goal of medicine is to develop treatments to improve peoples’ lives and, in this case, to make Down Syndrome a disorder of the past. It seems counter intuitive that researchers are investing time and money into treatments that people may not even want; however, the idea is not to create a treatment for every single person with Down Syndrome regardless of what it may do to their self, but to give people with Down Syndrome and their families more options about how to live with the disorder. Whether they choose to improve cognition or not is up to them, but having that ability represents a significant leap forward in their autonomy. The question of whether Down Syndrome can and should be treated is tied to a larger discussion about how disabilities are viewed on a daily basis, but working towards a cure and working to remove the stigma surrounding people with disabilities do not have to be mutually exclusive.

References

Becker, A. J. 2016. A Pill for Down Syndrome. The Atlantic, March 15. Available at: http://www.theatlantic.com/health/archive/2016/03/down-syndrome-mother/473832/ (accessed June 10, 2016).

Boston University Medical Center. "Discovery of key abnormality affecting brain development in people with Down syndrome." ScienceDaily. www.sciencedaily.com/releases/2016/02/160225135608.htm (accessed June 10, 2016).

Rochman, B. 2015. A Change of Mind. MIT Technology Review, December 16. Available at: https://www.technologyreview.com/s/544531/a-change-of-mind/ (accessed June 10, 2016).

Seibel, B. 2015. Behind the Stigma: How the label of Down Syndrome keeps us from understanding the people who have it. Vantage, April 27. Available at: https://medium.com/vantage/how-the-stigma-of-down-syndrome-separates-us-from-the-people-who-have-it-99e1a36091a6#.qbtd9x6mq (accessed June 10, 2016).

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Sachdeva, Sarika. (2016). Would a Therapy for Down Syndrome Change Lives For Better or For Worse? The Neuroethics Blog. Retrieved on , from http://www.theneuroethicsblog.com/2016/07/would-therapy-for-down-syndrome-change.html