Down Syndrome in a Brave New World

Curtis became a close friend when I was in younger preschool. My mother recounted years later my excitement when I returned home from church and reported that I had made a new buddy, and that he spoke Spanish! Mom lovingly smiled and explained that he did not speak another language; instead, he was born with Down Syndrome, which had slowed his verbal development. I learned as an adult that this genetic disorder, clinically termed Trisomy 21, causes intellectual disabilities and delays. [A] Those born with this condition also may have weak muscles, flat facial features, and almond shaped eyes. Despite the cognitive, physical, and health challenges these individuals face, many live full and active lives filled with social and emotional awareness. The average life expectancy of persons with Down Syndrome is now around sixty years, with some living into their eighties and nineties.

Despite medical advances related to Down Syndrome, which have greatly increased the health, productivity, and longevity of individuals with Trisomy 21, many do not live to be born. Currently in the US, about 5,700 children are born with Down Syndrome each year; however, sixty to eighty percent of unborn children, diagnosed with Down Syndrome through noninvasive prenatal testing (NIPT), are aborted each year. [B] The selective termination of innocent unborn children raises a critical ethical question: What obligation may Christians have to preserve and enhance the lives of people like Curtis who have Down Syndrome?

Down Syndrome is named after John Langdon Down, a British physician, who first medically described the condition in 1866. Dr. Down served as Medical Superintendent at the Earlswood Asylum, an institution for people with developmental disabilities. He transformed that establishment by treating residents with dignity and teaching them life and developmental skills. The patients also received good food and occupational training.

Down classified the disorder that bears his name and termed it "Mongolism" because of similarities to the facial appearance of those from East Asian descent. Words like "Idiot" and "Mongoloid" were used at the time to refer to people with Down Syndrome, but these terms are no longer considered to be useful because of their racist overtones, and a genetic discovery related to the disability. A 1958 discovery by Jérôme Lejeune, a French pediatrician and geneticist, revealed that the genetic condition is caused by an extra copy of chromosome 21, hence Trisomy 21. [C]

Current genetic advances, in fact, show us what Dr. Down had observed; namely, there is no room for either racism or discrimination. All of us humans carry some type of genetic flaw. Consider that a nucleus resides inside each cell in your body that contains your genetic information, or DNA. This hereditary material comes from a fertilized egg, or zygote. When it begins to divide, it replicates its genetic materials in other cells that ultimately creates tissues and organs in our bodies. When cells replicate and divide, they make an exact copy of their DNA, and then split the copies between the resulting two cells. Each cell theoretically should contain the exact same genetic information as the original fertilized egg. In rare cases, however, this fixed pattern fails to occur in the replicated cells, resulting in changes on chromosomes that carry all a person's genetic information inside each cell's nucleus. Scientists are unsure as to why this phenomenon occurs sometimes, or why the DNA splits unevenly and the resulting cells become different. 

The abnormal cell may die in this process or, if it lives, what is termed "mosaicism" occurs. [D] This term describes two or more sets of cells that differ genetically from one another. This occurrence can lead to several types of genetic conditions, including Down Syndrome. We all have some amount of mosaicism, hence the subtitle to this section! There is no way, currently, to predict whether or when a disorder or disease will surface. Genetic research has introduced us to a "brave new genetic world," where moral tragedy and triumph both occur. Due to the limited scope of this article, we will examine a crossroad where Down Syndrome, genetic medicine, and assisted reproductive technology intersect, for this spot holds significant ethical implications.

In vitro fertilization is a fertility treatment where an egg and sperm are joined outside a body in a laboratory to create embryos. These embryos will be transferred to a woman's uterus hopefully to establish a pregnancy. A genetic test, called pre-implantation genetic testing (PGTS), is performed in a lab prior to inserting a fertilized egg into a woman's uterus. The process involves a collaboration between a fertility clinic and a specialized genetics lab. Eggs that are determined to be "chromosomal normal" are used for implantation. If Trisomy 21, for example, is discovered, a fertility specialist, in consultation with the patient, will ultimately determine whether the embryo is accepted for implantation or rejected. This decision holds serious ethical and legal implications for the moral status of an embryo and fetal personhood. [E]

On one side of the issue, some view selective abortion as a form of eugenics, while on the other side, parental autonomy advocates claim a right to make informed decisions about reproductive choices. Regardless, this intersection is not the first crossroad, nor will it be the final one, in an ongoing discussion that genetics raises concerning the value of human life, personhood, rights, justice, and what I call "moral vision." The latter is often lacking when we become entrenched on opposite sides of a moral issue. Christians do well to anticipate future challenges to these bedrock ethical principles for flourishing lives and become prepared for a meaningful response.

John Langdon Down, even though he died decades before the advent of assisted reproductive technologies, recognized the dignity of the developmentally disabled and the value of each human life. This view was grounded upon the principle of life's sanctity. While some use a developmental calculus to determine moral status and quantify the potential for quality of life, the beginning point for Christian decision-making ought to include the intrinsic worth of persons (Genesis 1:1, 26-31).

These two perspectives illustrate the deep moral chasm between those who do not see the fertilized egg as an unborn child and those who do; as well as those who denounce selective abortion and those who advocate for the right of families to make reproductive choices that may include abortion. Christians have long advocated this bedrock principle of life's sanctity, so they ought to engage in the public square in ways that ensure the protection of innocent human life.

Dr. Down also recognized the rights of the developmentally disabled and provided inclusion in a community of caregivers and other patients. There is much awareness in contemporary culture that Down Syndrome children and adults provide a key element to the wholeness of a society. Christians will take added care to foster inclusive homes and churches that weave Down Syndrome children and adults into the fabric of daily community life. [F]

The good doctor was also a moral visionary, which prompted him to seek medical and social interventions that were aimed at improving lives. He was well acquainted with tragedy; indeed, he saw evidence of it each day in his role at Earlswood. He, however, pursued triumph over the natural evil that surrounded him. Currently, fresh genetic discoveries are opening the way for promising treatments and interventions regarding Trisomy 21 and other genetic disorders. XIST-based research, for example, aims to silence the extra copy of chromosome 21 in trisomic cells which holds potential for the development of therapeutic strategies to eliminate Trisomy 21. Faith communities will strive to cultivate a moral vision that creates ways to surround families with prayer, help, and encouragement, as they walk through challenging decisions that follow a diagnosis of a developmental disability like Trisomy 21. They also should craft family-support ministries for developmentally disabled children and adults. Key biblical principles undergird this challenge to protect life in this brave new world.

Christians, as well as some non-Christians, hold to the God-created intrinsic value of every human life and base this core conviction upon God as Creator. Proper reverence for God's moral authority should preface decision-making in all areas of life, including those choices regarding the unborn and those with disabilities. The psalmist, in fact, calls believers to worship God for His creative majesty (Psalm 139:13-16). This worldview gives one the ability to see the worth of each individual, regardless of genetic disorders.

Secondly, finite humankind stands in direct contrast to God's greatness (139:17-18). Trisomy 21, as well as all genetic disorders and treatments, is extraordinarily complex and nuanced. Human understanding is limited, which calls for humility.

Thirdly, The Hebrew language for Psalm 139:13 states quite literally that God “formed my kidneys”! This has been translated in a variety of ways—inward parts, inmost self, whole body, and personality—but the point is that God is the author of life itself (139:13), and He has fashioned His creation with a purpose in mind (139:1-18). Such creative purpose includes those with developmental disabilities like Down Syndrome. Our natural world contains calamities and tragedies, but God works all things for good, for those who are called according to his purpose (Romans 8:28). We should trust Him and His care.

Thankfully, Curtis' parents chose to keep their son and worked tirelessly to integrate him into their family, church, and community, despite lingering societal biases in those days regarding children and adults with Down Syndrome. I have been profoundly impacted by Curtis' life. People with disabilities are worthy of our brotherhood and sisterhood in Christ and our Christian advocacy in a culture that often devalues and sometimes discards those with genetic disorders.

The Old Testament prophets bravely decried social ills that plagued society by calling people to worship the one true God. The Apostle Paul did the same in Athens, when he grieved over the idols in that city and challenged the conventional wisdom of its residents (Acts 17). Our culture needs similar moral visionaries who will challenge the conditions that threaten human lives by denying them their inherent value and robbing them of opportunities to participate in communities. Be that person.

Prayerfully yours,
Larry C. Ashlock

Notes:

A. Children born with this condition have three separate copies of chromosome 21. Trisomy 21 comprises 95% of Down Syndrome cases.

B. Selective abortion rates are much higher on a global scale. Furthermore, the United States Supreme Court Decision to overturn Roe V. Wade with the Dobbs v. Jackson Women's Health Organization decision in 2022 will likely impact selective abortion of Down Syndrome babies in the United States. Legislation related to fetal personhood, such as the law in Alabama, will likely begin to impact selective abortion.

C. Cf. Lejeune Clinic. The research findings were published in January 1959.

D. See Yale Medicine.

E. See Johns Hopkins Bloomberg School of Public Health discussion of IVF and the evolving issue of the moral status of embryos prior to implantation. The issue currently holds legal and ethical implications. See also Larry C. Ashlock, Pathway Perspectives: HOV Lanes, IVF, and Personhood (March 2024). The article examines the ethical topic of fetal personhood. See current and emerging legislation on this topic at the federal and state levels.

F. Web Resources: Key Ministry, Focus on the Family, and Elim Christian Services. These websites provide helpful resources and ideas that will help families and churches to provide ministry to people with disabilities.