[Dis]Ability: A “Cure” for Down Syndrome
[Dis]Ability: A “Cure” for Down Syndrome
[Dis]Ability: A “Cure” for Down Syndrome
By Keerthi Jayaraman
Scientists at the University of Massachusetts Medical School have found a way to silence the chromosome that causes Down syndrome. By inserting a gene called XIST, (which is normally used to silence the second X chromosome in female mammals) scientists could silence the extra chromosome 21 causing Down syndrome. When comparing brain cells with and without the gene XIST, scientists found that the brain cells with the gene were developing faster and were able to form cells during mitosis without the extra chromosome. This discovery was referred to as “a cure in a Petri dish,” but it has the potential to essentially turn off the genetic material that causes the medical conditions often associated with Down syndrome. By “curing” Down syndrome, are we taking away a part of one’s identity? Are people with Down syndrome at an unfair disadvantage? Does gene editing come with less risk than the health issues that come with Down syndrome? This essay explores what it means to be differently abled in the context of Down Syndrome, for it is a unique condition that many don’t consider to be a disability.
Table of Contents
- The Physiology of Down Syndrome
- Cultural Considerations of Down Syndrome
- Ethical Arguments
Scientists at the University of Massachusetts Medical School have found a way to silence the chromosome that causes Down syndrome. By inserting a gene called XIST, (which is normally used to silence the second X chromosome in female mammals) scientists could silence the extra chromosome 21 causing Down syndrome. When comparing brain cells with and without the gene XIST, scientists found that the brain cells with the gene were developing faster and were able to form cells without the extra chromosome. This discovery was referred to as “a cure in a Petri dish,” but it has the potential to essentially turn off the genetic material that causes the medical conditions often associated with Down syndrome.
The controversy that surrounds this new discovery in chromosome therapy comes with both similar and different arguments associated with the debate about abortion. Abortion and chromosome therapy are similar in the sense that both are taking away something that never got to develop and grow. However, chromosome therapy is different because this process eliminates part of the potential child’s identity, while abortion eliminates the fetus all together.
By “curing” Down Syndrome, consequently are we taking away a part of one’s identity? Are people with Down Syndrome at an unfair disadvantage? Does chromosome therapy come with less risk than the health issues that come with Down Syndrome? This essay explores what it means to be differently abled in the context of Down Syndrome- for it is a unique condition that many don’t consider to be a disability- and the possible ethical dilemmas that arise with the potential of chromosome therapy.
The Physiology of Down Syndrome
A Factual Background of Down Syndrome
Down Syndrome is a condition that arises when cells have an extra copy of chromosome 21. A spectrum is often used to describe Autism, but some describe Down Syndrome using a spectrum as well. Liz Roush, a writer on the website titled The Mighty and a parent of two daughters with Down Syndrome, describes the condition using a spectrum because it takes into account how the extra chromosome can manifest in different ways. The Down Syndrome spectrum takes into account the physical and mental conditions Down Syndrome patients may face. According to the National Down Syndrome Society, physical conditions of Down Syndrome can include: intolerance to anesthesia, atlantoaxial instability, blood diseases (i.e. Leukemia), dental issues, ENT issues, airway obstruction, etc. Cognitive conditions that may arise in Down Syndrome patients can include: ADHD, Alzheimer’s, dual diagnosis of Autism and Down Syndrome, mental health issues, etc. A “severe” case of Down Syndrome would be classified as a patient having many serious physical conditions (i.e. Leukemia, airway obstruction) as well as cognitive conditions (i.e. ADHD). A “mild” case of Down Syndrome would be classified as a child having less serious physical conditions (i.e. dental issues, etc.) as well as cognitive conditions (i.e. dual diagnosis of Autism and Down Syndrome. However, it is important to note that the Down Syndrome “Spectrum” is not a defined scale that neatly classifies Down Syndrome cases as “severe” or “mild.” The Down Syndrome “Spectrum” is subjective and personal for every person may have a different definition of what may be “severe” or “mild.” No one person can pinpoint where on the Down Syndrome spectrum someone may be because there is a lack of rigidity when categorizing Down Syndrome. The spectrum serves as a tool to depict how there are different forms of Down Syndrome and how every patient with Down Syndrome has a different story to tell.
How Down Syndrome is Diagnosed
Down Syndrome has an unique group of properties which allows physicians to diagnose some cases during a physical examination. To confirm physical findings, physicians are able to take a small blood sample which can be analyzed to determine the presence of an extra chromosome 21. This blood sample brings into light important information in determining risk in future pregnancies. Chromosomal abnormalities can also be diagnosed before birth by analyzing cells in amniotic fluid or from the placenta. Even fetal ultrasounds can be utilized in order to determine if a baby has Down Syndrome, although the method is not 100% accurate. For example, many babies with Down Syndrome can look like babies without Down Syndrome on an ultrasound. While a chromosome analysis, whether performed on a blood sample, cells from the amniotic fluid, or placenta, is over 99.9% accurate in diagnosis (Medical University of South Carolina).
The Process of Genetically “Correcting” Down Syndrome
The discovery of silencing the extra chromosome 21 that causes Down Syndrome is one that has many different methods to reach the same goal. The methods to be described are all discoveries made in different years. Such methods could not “cure” Down Syndrome before birth because the condition occurs at conception. Elixergen (2015), University of Massachusetts Medical School (2013), and University of Washington (2012) are institutes and a company that have conducted research with the motive of silencing the extra chromosome 21. Three different research studies have been included to show how the methods have evolved and stayed similar as different scientists attempt to achieve the same goal of silencing the extra chromosome 21 that causes Down Syndrome.
In 2015, biotechnology company, Elixergen conducted experiments in hope of silencing the extra chromosome 21 in cells. First, by introducing a gene called ZSCAN 4 into a cell line derived from individuals with such trisomic conditions, researchers have been able to produce cells containing the typical number of chromosomes. Scientists had effectively converted a full trisomic condition (an extra chromosome 18 or 21 in every cell) into a mosaic syndrome, or a combination of cells, some with an extra chromosome and some without. Mosaicisms occur naturally in some individuals with Down syndrome and Edwards syndrome, but this was a mosaic condition that was induced through genetic therapy.
Next, the “Cure in a Petri Dish” was discovered by scientists at the University of Massachusetts Medical School. The institute was amongst the first to find that it may be possible to switch off the genetic material responsible for the condition that causes cognitive delays, heart defects and shortened lifespans. Their procedure allows DNA to be cut and pasted, to drop a gene called XIST into the extra chromosome in cells taken from people with Down’s syndrome. Once in place, the gene caused a buildup of a version of a molecule called RNA, which coated the extra chromosome and ultimately shut it down.
Finally, researchers at the University of Washington used an adeno-associated virus to deliver a foreign gene called TKNEO into a particular spot on chromosome 21, precisely within a gene called APP, which sits on the long arm of the chromosome. The TKNEO transgene was chosen because of its predicted response to positive and negative selection in specific laboratory growth mediums.When grown in conditions that selected against TKNEO, the most common reason for cells to survive was the spontaneous loss of the chromosome 21 harboring the transferred gene. Other survival tactics were point mutations, which are single, tiny alterations in DNA base pairs; gene silencing, which meant TKNEO was “turned off” by the cell; or deletion of the TKNEO. According to the Washington University study, “Someday Down syndrome leukemia patients might have stem cells derived their own cells, and have the trisomy corrected in these lab-cultured cells. They could then receive a transplant of their own stem cells – minus the extra chromosome – or healthy blood cells created from their fixed stem cells and that therefore don’t promote leukemia, as part of their cancer care.” People with Down Syndrome have a higher risk of getting blood diseases such as Leukemia. With such an application of chromosome therapy, leukemia Down Syndrome patients will be essentially be able to use their own stem cells as part of cancer care and be able to recover from physical health issues associated with Down Syndrome.
Currently such research has been done using cells extracted from patients who have Down Syndrome and other trisomic disorders. In other words, such medical advances has not been tested using actual patients. However, the potential of the proposed gene therapy has led to ethical debates over disability, identity, and fairness.
Cultural Considerations of Down Syndrome
The History of Disability
Disability has been observed for centuries, beginning as early as the Middle Ages. During the 15th Century, people attributed disability with demons. This association led people to call disabled people demeaning names such as “‘monsters,’” “‘prodigies,’” and ‘“the maimed”’ (Stiker 91). The Enlightenment spurred the development of institutions for the disabled known as asylums, clinics, and prisons. In the 19th and 20th century, the “norm” for humans was created. French statistician, Alphonse Quetelet, wrote in the 1830s of l’homme moyen – the average man in which the “norm” for humans was written and established. The rise of eugenics led to the concepts of abnormal, non-normal, and normalcy to exist. Such use of these concepts led to the popularity of freak shows, where people could profit from exhibiting people who were not “normal.”
Disability vs. Differently Abled
According to the US Government’s Social Security page, one who is disabled “must not be able to engage in any substantial gainful activity (SGA) because of a medically-determinable physical or mental impairment(s): That is expected to result in death, or that has lasted or is expected to last for a continuous period of at least 12 months.” According to the Americans with Disabilities Act (ADA), An individual with a disability is defined by the ADA as a person who has a physical or mental impairment that substantially limits one or more major life activities
[. . .] or a person who is perceived by others as having such an impairment. Finally, according to the Disability Discrimination Act (Equality Act of 2010) one is disabled if you have a physical or mental impairment that has a ‘substantial’ and ‘long-term’ negative effect on your ability.
All three of these government issued definitions of disability frame it as an “impairment,” a condition that “substantially limits” one, or a predicament that has a “negative effect” on one’s life. Such descriptions illustrates disability in a negative light and makes disabled people out to be unable to do many activities. However, as a society we are beginning to replace the term “disabled” with “differently abled” because of the negative connotation associated with “disability” that leads people to infer that one who is “disabled” is incapable of doing anything. Whereas the term “differently abled” has a more positive connotation because it implies that disabled people are capable of doing many different things as well.
How Disability Fits Into Society
As a society, people with disabilities are treated differently. On one hand, some differently abled people receive enormous amounts of sympathy which makes it difficult to be “normal.” Sympathy can be a problem for people with disabilities because it characterizes their disability as a disadvantage rather than a different way of being. The term “normal” is a difficult one to explain for it has many different definitions depending on who you ask. In the context of this paper, “normal” is the common way that someone is perceived. On the other hand, others are ignored or avoided by people because they do not know how to act around differently abled people. However, differently abled people are now being integrated more and more into mainstream media. TV shows like glee and Speechless star differently abled people with Down Syndrome and Cerebral Palsy.
Identifying with Down Syndrome: What Happens if it is Taken Away?
The Down syndrome community is a vocal community in which many families are able to connect. This can be seen in affinity websites such as The Mighty, National Down Syndrome Society, and local Parent Groups. Many families from affinity websites can attest to the idea that having a child with Down syndrome makes them see life from a different perspective. A lot of parents agree that seeing their child live their life so happily makes them joyful and privileged to raise someone with such a free perspective of life. A mother wrote about her experience as a parent of a child with Down Syndrome, “the overall portrait of family life with a person with Downs in the mix is a positive one. Harder in some ways, yes. But good” (New York Times). In this quote, the mother describes how raising a child with Down Syndrome can be difficult, but she emphasizes how raising a child with Down Syndrome is a positive experience. A father of a child with Down Syndrome wrote an opinion article for The New York Times titled “I Don’t Speak for Laura” in which he states, “Her preference for simplicity, like my fondness for complication, is an effect of identity, of which ability is only a part.” This excerpt shows how every person with Down Syndrome has a different story. The quotation also alludes to how one with Down Syndrome can identify with many things other than Down Syndrome. In addition, some people with Down Syndrome still get amazing opportunities which shows how many people with Down Syndrome do not consider their condition to be a bad thing. For example, Lauren Potter, an actress with Down Syndrome, starred as Becky on the hit show Glee. She also became an adviser for President Obama for people with intellectual disabilities.
Fairness and the Availability of Opportunities for Children with Down Syndrome
Chromosome therapy- and the idea that Down Syndrome could be ‘eliminated’ from an individual- raises a number of complex ethical issues. With chromosome therapy, a child with Down Syndrome could have a chance at a typical life, free of the mental and/or physical adversities one may face as a person with Down syndrome. However, it is possible for people to view people with Down syndrome is a nondiscriminatory way. Many would argue that people with Down Syndrome are able to enjoy the same quality of life as anyone else.
With chromosome therapy, the child could “live their life to the fullest.” In other words, there would be less serious health issues that would shorten life or lessen the quality of it. On the other hand, if a child has Down syndrome, there is already financial aid and additional assistance in school that evens the playing fields for a child with Down syndrome. There is IDEA, a government act that essentially states that the government is responsible for the public education of children with disabilities. Also, disability is not necessarily something that holds one back from living their life, but is simply a part of who they are. When traveling to India, I met a student who had polio and was unable to use her arms as a result. However, she didn’t talk about her condition at all and found other ways to participate without getting help. For example, she wrote all of her notes with her foot since she couldn’t write with her hands. Such an example, illustrates how differently abled people are capable of doing many things in life.
Chromosome therapy comes at a fairly high cost and only a select few will be able to use it. Those who are able to afford chromosome therapy can also afford to take good care of child with Down syndrome. Also, those who may benefit from using chromosome therapy will not have the means to afford the treatment or the care needed to sufficiently take care of a child with Down syndrome. The rich would be able to afford the options and take advantage of them, while the poor would not be able to afford the chromosome therapy or to raise a child with disabilities. It is important to note that such economic privilege exists in all aspects of society. Chromosome therapy is not practical for all of society since realistically all people will not be able to afford it. Those who can afford it will be of upper middle class and upper class.
How can Chromosome Therapy Change One’s Identity?
There are many factors regarding identity that should be considered when deciding to use chromosome therapy. As of now, the application for Down Syndrome chromosome therapy is extremely hypothetical which leads ethicists to think about many different possible scenarios.
The timing of Down Syndrome chromosome therapy is significant because as of now studies suggest it can only be done after birth. This begs the question, what is the motivation for using chromosome therapy after being born with Down Syndrome? There are two different situations that families with a person with Down Syndrome may face. Either the parents opt to use the chromosome therapy and decide for their son/daughter to use it or the person with Down Syndrome choses to use it himself/herself.
Parents who opt for chromosome therapy could face the guilt of changing their child’s identity. Guilt would be felt by the parents for not letting their child manifest in the way they would have without the change. Identity is the way one defines themselves. This could include: Race, Gender, Ability, etc. Identity is a combination of how one is raised and their genetics. For example, my parents raised me to value service and the people around me (part of identity given to me by the way I was raised). I consider myself to be an Indian girl (part of identity given by my genetics). However, by using chromosome therapy they are giving their child the possibility of living a “normal” life. They won’t have to worry about what may happen to their child after they pass away. Parents who opt not to gene edit may feel guilty if they see their child suffering with Down syndrome. However, most parents of children with Down syndrome agree that their child doesn’t suffer because they have Down syndrome. Suffering in this context means that the person is unable to engage in activities, is in pain, and is not capable of being happy. Parents to opt for chromosome therapy before their child is of age to give consent can be an autonomy issue. However, it can be argued that all parents think in the best interest of their child. If a person with Down Syndrome was to choose to have the chromosome therapy, then there is no autonomy issue. However, it would be interesting to know their reasoning for opting for chromosome therapy.
As previously mentioned, the application of chromosome therapy for Down Syndrome is very hypothetical. The following is an application according to the University of Washington, “Someday Down syndrome leukemia patients might have stem cells derived their own cells, and have the trisomy corrected in these lab-cultured cells. They could then receive a transplant of their own stem cells – minus the extra chromosome – or healthy blood cells created from their fixed stem cells and that therefore don’t promote leukemia, as part of their cancer care.” In other words, one application of Down Syndrome chromosome therapy could be a part of cancer care for patients with Down Syndrome. Such an application of chromosome therapy would be changing the patient’s health risk by silencing the extra chromosome. However, does improving one’s health by silencing a chromosome, a part of their DNA, change their identity? In this instance, it would not be the case because Down Syndrome chromosome therapy has not been known to improve cognitive delays or change physical features, aspects most commonly associated with Down Syndrome.
Hypothetically, if Down Syndrome chromosome therapy were to improve the cognitive delays and change physical traits, one could argue that chromosome therapy was taking away aspects of the child’s identity. The physical appearance and cognitive predisposition of people with Down Syndrome is a huge part of their identity. In regard to their cognitive predisposition, parents of people with Down Syndrome agree that their child is able to see life from a more happy and free perspective. If chromosome therapy were to take that away, it would also take away that aspect of their identity. It is interesting to think about the hypothetical situation in which a person with Down Syndrome receives the chromosome therapy which “cures” him/her of the cognitive and health risks that come with Down Syndrome, but still has the physical markers of a Down Syndrome patient. In respect to the physical traits associated with Down Syndrome, the public can easily tell when a person has Down Syndrome based on their physical features. Such features are a big part of their identity because it is how people define them. Would such a person be in an unlucky in between state? Genetically and health-wise, the person would be free of the health and mental conditions associated with Down Syndrome. But, if the Down Syndrome facial markers remained, would the person still feel abnormal? Would society establish the person as someone with Down Syndrome? If Down Syndrome chromosome therapy were to take away only such physical markers, society could potentially view people with Down Syndrome as “normal.” This is because most people make connections based on what they see. Society will not view the person’s karyotype free of the extra chromosome 21. Society will see the small, flat face and small, almond shaped eyes and automatically assume the person has Down Syndrome. The extent of Down Syndrome chromosome therapy, only goes so far. What does it mean to look “normal” without actually being genetically “normal?”
Safety: Choosing Between Two Uncertainties
While there isn’t much information regarding the safety concerns of chromosome therapy for Down Syndrome, there are many ethical arguments regarding the value of safety. Gene therapy comes with some uncertainty and unknown harms, while the Down Syndrome comes with definite health concerns. There is a risk of gene toxicity which means in the context of removal of chromosome 21 must not break or rearrange the remaining genetic code. The gene therapies existing for Down Syndrome are experimental- all experiments have uncertain outcomes. The health concerns is on a case by case basis for not every case has life-threatening issues. In other words, every condition of Down Syndrome is different and each case has the potential to react differently. Gene therapy has the potential to cause more harm than Down Syndrome would have in the first place.
All children, healthy or not, come with a great deal of uncertainty. Parents faced with the task of imaging a life for a child that hasn’t come to the world yet. If parents are already feeling uncertain about having a child, having a child with Down syndrome could add to that already present stress.
I would propose to give more education to the public about Down syndrome for many simply don’t know enough about this condition. The target group for such education would begin with students in elementary school and as students progress in school the education about Down Syndrome would be more in depth.Students would be educated about what Down Syndrome is, the preferred terms used in the Down Syndrome community, how to speak/interact with people who have Down Syndrome, etc. Also, I would propose to introduce more education for people with Down Syndrome. This would include clinics in which people with Down Syndrome can gain skills that will help them enter the workforce. Businesses and companies that can offer jobs for people with Down Syndrome should begin to be more open to hiring people with Down Syndrome. This can be done by providing education about the abilities and competence people with Down Syndrome have.
People with Down Syndrome (and differently abled people in general) contribute a lot to society. Simply put, differently abled people add to diversity. Diversity is not a concept only related to race, sexual orientation, or religion. Diversity in ability is an important concept as well because being able to interact with people who have different abilities is an opportunity to learn more about the different ways people succeed in life. Differently abled people allow other people to use and learn more about acceptance and tolerance. By interacting with people who are different than yourself, one is able to become more informed about different kinds of people. This leads to the development of one’s character, etc. Speaking from personal experience, there was a child with Autism in my 3rd grade class. I sat next to him for a good part of the year and my interactions with him has led me to become the more open-minded and accepting person I consider myself to be today. Being with differently abled people allows one to expand their own concept of ability.
I don’t think chromosome therapy should be used to “correct” Down syndrome because it is my concern that everyone who has a child who is diagnosed to have Down syndrome will opt to “fix” their child. I do note that chromosome therapy could prevent such children from suffering severe health concerns such as blood cancer and heart defects. However, by using chromosome therapy I feel that parents are not allowing their child to grow and develop their own identity and sense of self. I believe many would choose chromosome therapy (if affordable) over abortion. In other words, if chromosome therapy becomes an affordable option, I think less abortions would happen. This is because I think parents would be more willing to “change” their child’s identity than they would be to abort a child. People from all backgrounds could have access to this technology if health insurance decides to cover the costs of chromosome therapy. However, this is unlikely to happen because chromosome therapy could be considered to be a personal health decision since they do not have to silence the extra chromosome 21 in order for their child to be healthy. I think there would be some religious conflicts with chromosome therapy because some may argue that chromosome therapy is changing the way “god” created their child. I believe people of faith would prefer to have a child with disabilities instead of using chromosome therapy or abortion because (from what I know about people of faith) they would want to have whatever child they were blessed with and not change a thing about it. It would be interesting to interview people of different faiths to see their stance on this new discovery.