Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease that typically causes death two to five years after first symptoms. Even after the infamous Ice Bucket Challenge that raised public awareness and over $200 million toward ALS research in 2014, we still know relatively little about the fatal condition—including which populations are most at risk and the disease’s pathogenesis. Public and scientific representations of ALS perpetuate an image of the disease as a “white disease,” a perception that can be passively reproduced when considering familial ALS. The complexities, unknowns, and mysteries of this condition have serious implications for gendered and racialized thinking about the disease, genetic inheritance, and diagnosis. Unfortunately, racialized thinking projects race (a concept that is socially-culturally construed and experienced) onto genes, erroneously replicating racist thinking in scientific knowledge production about human diversity and ultimately within the medical care that patients receive.
“Is there a test for this shit?”
Melissa came scurrying around the corner with her long box braids and coffee-colored skin, and excitedly shared in her thick Kenyan accent, “Chelsey! Ms. Turner in room seven is Black. . .and will you draw her blood for genetics? . . .” And with that she trailed off as she turned the corner to visit the next patient on her schedule. A research coordinator at the ALS clinical lab at Midway Hospital and the only other Black woman in the clinic, Melissa would alert me if a patient was enthusiastically interested in sharing their ALS story, but she would particularly let me know if a Black patient was at the clinic that day. I wanted to know how racialized productions of knowledge of ALS as a “white disease” impact the diagnosis, care, and treatment of Black people with ALS in my hometown of St. Louis.
I quickly gathered my phlebotomy materials (blood draw kit) and prepared to put my anthropologist-phlebotomy technician’s hat on for Ms. Turner. I gently knocked on a partially cracked door and heard laughter and a proud “Come on in, honey!” As I walked into the room, I saw a jovial, slender, dark-skinned older Black woman sitting in a hospital wheelchair and laughing with her daughter, who had accompanied her to the appointment.
Before I could open my mouth to introduce myself, I saw Ms. Turner’s eyes glance down at my blood draw kit, and she exclaimed, “This is the LAST time I’m doing some shit like this. . .I don’t know what they gonna do with my blood!” I chuckled and nodded my head in agreement, trying to assure her that I more than understood the histories of experimentation on Black people. The “they” Ms. Turner was worried about were white researchers in the United States. “This ain’t Tuskegee,” she retorted. Ms. Turner went on to explain the horrors of medical care, referencing the United States Public Health Services’ “Tuskegee Study of Untreated Syphilis in the Negro Male” (also known as “Tuskegee”) and the story of Henrietta Lacks and the “obstetric racism” her mother endured in the basement of the same hospital in the 1950s, just as anthropologist Dána-Ain Davis establishes in her ethnographic work with Black women during and after pregnancy. Given this reality, I asked her why she wished to donate her blood to the lab’s genetics study, and she unenthusiastically retorted, “What else do I have to lose?”
The room felt somber as Ms. Turner briefly lamented how long it had taken for her to receive an ALS diagnosis. As I prepared my supplies, she looked at me and laughed, “I literally asked the doctor one time, ‘Is there a test for this shit?’ And he told me, ‘No ma’am. Not for you.’ Cause he said it didn’t run in my family. . .” Her words stopped me in my tracks because there was something particularly meaningful about what the doctor shared with her. I asked if he had enquired if others in her family had ALS, and she joked, “Hell no!” with a laugh. What could he mean by this comment?
The doctor’s failure to offer Ms. Turner a test had real implications for her diagnosis, care, and perception of medicine. While 90 percent of all ALS cases are considered sporadic (affecting anyone), 10 percent of cases arise when there is a history of ALS in a family, “familial ALS,” related to several associated genes, such as SOD1, superoxide dismutase 1. The clinical presentations of familial ALS and sporadic ALS are quite related; however, the onset of symptoms of familial ALS can sometimes begin earlier for some patients. In 1993, Daniel R. Rosen and colleagues identified SOD1 as the first gene associated with the devastating terminal disease. Since then, researchers have found nearly 30 genes in ALS pathogenesis and that some inherited forms of ALS are caused by three of the common mutations: D90A, the A4V, and G93A. Consequently, many researchers see SOD1 as one of the main pathological predictors of the disease.
In my 15 years investigating this disease, there are no circumstances in which a doctor could determine that a test is not for someone exhibiting the symptoms, especially when family history is unknown. What was Ms. Turner prevented from learning about her illness because she was not offered genetic testing? Why was a genetic test not proposed or deemed relevant? What struck me about Ms. Turner’s doctor telling her the test was “not for her” was that the declaration relied on a racialized assumption that she didn’t have familial ALS because she wasn’t white—regardless of the fact that researchers have noted that genetic testing may be helpful in better understanding ALS disease progression and can also help to differentially diagnose ALS from other neurodegenerative diseases that can mimic the symptoms associated with the condition, such as Alzheimer’s, Parkinson’s, and some forms of Charcot Marie Tooth Disease. Her doctor also didn’t ask her if other people in her family had been diagnosed ALS or had ALS-like symptoms to more precisely deduce if Ms. Turner’s ALS had a genetic link. As my ethnographic data illuminates, it is likely that the doctor didn’t test her because of an assumption that Black people don’t get ALS.
Fifteen years with ALS
“Hello,” a faint voice spoke from the other end of the phone. Far too enthusiastically I said, “Hi, I’m Chelsey. I’m calling from Midway University Hospital. How are you?” The voice on the other end strengthened, and I heard her kindly reply, “I’m fine. How are you?” Excited at the opportunity to share details about my study to a real human (and not a voicemail) for the first time, I quickly gave Becky my research pitch. She agreed to participate in the study, and instructed me that I would need to come to her home because, she quipped, “other than my yearly ALS appointment, I stay at my house.”
Becky’s 82-year-old father welcomed us into her exquisite five-bedroom house located in an affluent suburb of St. Louis and adjusted the chair lift out of our way as we descended the stairs to the basement. Past a bar to one side and a hospital bed in the corner next to the accessible bathroom, and across a living room bathed in natural light from the patio window, sat a thin white woman wearing a baggy pair of sweatpants and reclining in front of a wide-screen TV. She smiled as we entered.
Becky was diagnosed with ALS in 2004, about a year after she believes she had her first symptom. She remembers a pronounced limp and being unable to stand on her tip toes shortly after the birth of her daughter. I asked her if she went to the doctor immediately and she shared that she waited six months before seeking a medical opinion.
I had had a C-section with my daughter. . .there are things that happen to you when you’re pregnant. So I thought it was just, you know, being pregnant, and maybe the C-section. So, I decided to wait six months. But one of my friends at work was like, “No Becky, you really should go to the doctor.” So, I made an appointment with my primary care. So, the first thing he did after he did all the tests was referred me to Midway. So, I went to Midway a few weeks later and did all the same tests and how they finally figured it out was they did a blood test because I have the familial kind of ALS. My family has the SOD1 mutation. So that’s how they were able to confirm it for sure.
Even while self-selecting to wait, Becky received a diagnosis in under a year. Unlike the majority of people with ALS, she was offered the SOD1 genetic test and her neurologist was able to confirm her diagnosis swiftly and with precision. I asked her if her doctor had suggested she have the test, and she responded, “Absolutely.”
Several members of Becky’s family carry the gene or have developed ALS. With sad eyes she told me, “Well, my mom’s father. So we lost my grandfather. My mom. Her sister and her brother. . . . And then, we also have my mom’s first cousin and her son. I think we’ve lost a total of 12 in my mom’s family.” Becky now had the same disease that she had watched her mother succumb to just eight years prior to our interview. She told me that her family became a “cool study sample” for ALS researchers at the Midway clinic and described how the research team came to their reunion in Southern Missouri to test the entire family. Although many family members were scared of the possible results, most were excited about the prospect of participating in research that could “save other people’s lives.” Becky then looked at me and said, “It was like when my grandfather was diagnosed; back then they didn’t think females got it. They just thought men got it. Because I had other family members that had been diagnosed with MS that looking back, they had ALS. They didn’t have MS.”
Multiple sclerosis (MS), is an autoimmune condition that affects the brain and spinal cord of the central nervous system. The National MS Society claims that women are three times more likely to develop MS than men. But how have these statistics been affected by experiences that Becky described in her family? Becky’s family and others reveal how our meanings and perceptions of gender modify the biases clinicians see in diagnosis and subsequently impact the reported prevalence and incidence of certain diseases.
Feminist anthropologists and historians have established that biased assumptions about women frequently conflate the biological concept of sex and the social construct of gender. In her work, anthropologist Emily Martin has argued that women’s bodies have been historically viewed as resources for the purpose of reproduction, and that sexism always infuses how we talk about women’s biology and bodies. Gender bias then produces suboptimal scientific rationality that leads to beliefs that only certain bodies can or cannot contract certain diseases.
The assumption that women in Becky’s family were not getting ALS reflects the power of the perception of ALS as a white man’s disease. Becky believes that five women in her family were misdiagnosed with MS and at least one aunt never received a diagnosis. What if the SOD1 genetic test had existed when her first aunt was diagnosed with ALS in 1965? Could the women in her family have received better treatment with the correct diagnosis?
The ramifications of gendered and racialized thinking
Writing about Tay-Sachs disease in Testing Fate: Tay-Sachs Disease and the Right to Be Responsible, sociologist Shelly Reuter reminds us that “any kind of medical racialization is the perception that members of a given racialized group share a common genetic-biological makeup. In reality, there is no such thing as a biological race, and certainly no such thing as a ‘Jewish disease’ (or black, or white, or Italian, etc.).” Yet when Ms. Turner asked her doctor if there was a test for ALS, he affirmed the perception of biological race and told her there was no test for her.
Science and medicine have also perpetuated the assumption that certain diseases exist only in white male normative bodies beyond women’s bodies. Just like, according to Becky, doctors once assumed women didn’t get ALS and were more disposed to MS. Medical ethicist Harriet Washington reveals that nineteenth century doctors invented diseases that only affected enslaved Africans, such as drapetomania and dysaethesia aethiopica, to justify the racial superiority of white people. In How Cancer Crossed the Color Line, medical historian Keith Wailoo demonstrates how in just one century cancer evolved from a “white woman’s disease” to a disease that all populations were at equal risk of developing and that ultimately placed communities of color, and specifically Black people, at greater risk of death. Wailoo effectively traces how public and professional opinions shaped people’s beliefs about race, risk, and cancer, evoking the descriptor of the “white gaze,” similar to Toni Morrison’s significant referent, to suggest that white male normativity dominates US society and invariably influences scientific observation and research.
Professional and public beliefs about who gets certain diseases impact our understanding of disease through the logics of racialization. In the case of ALS, white male normativity then gets enmeshed within genetic knowledge, influencing Ms. Turner’s and Becky’s experiences with ALS diagnosis. Nearly 21 years after genomic pioneers “called for an end to the use of race as a variable in genetic research” after the first survey of the human genome, we still haven’t ended this practice. Despite criticism of the biological race concept as a way to understand human variation and rendering of race as a social construct by social scientists, within genetics and medicine, science still finds inventive ways to make race biological. In this way, historically marginalized and oppressed groups, particularly Black people in this case, are “rationalized” by scientific biological deterministic thinking rather than sociocultural explanations of racism and inequality. Consequently, science then reproduces inaccurate beliefs about race, which, in turn, inform scientific knowledge with very real biological, harmful, and discriminatory consequences on individual health and well-being.
If Becky and the many women in her life experienced gendered bias on their journey to an ALS or MS diagnosis, which cost them time, proper treatment, and care, this reality is even more severe within a racialized framework—one that denied Ms. Turner and many other Black patients I spoke with the opportunity to test for familial ALS. Becky’s and Ms. Turner’s experiences force us to attend to the way that without critical inquiry, racial bias will continue to shape the scientific production of knowledge and diagnosis of ALS, with severe repercussions for patient care. Ms. Turner waited for an ALS diagnosis for nearly two years, a significantly longer time than the average white ALS patient, even Becky—an unfair and inequitable time to wait for answers from biomedicine. Ms. Turner is unfortunately one of several Black people to receive unequal treatment in my ethnography.
Coupled with other forms of oppression, especially anti-Black racism, so much is at stake for the care and survival of Black people, and specifically Black women like Ms. Turner. Without diagnostic accuracy and equitable health care, these inequities lead to further health disparities and what I call “health omissions”: falling into biological deterministic thinking that quite literally omits certain individuals from diagnosis, care, or research studies.
At a lecture at Duke University, anthropologist Lee Baker recently shared the idea that “race is a scavenger ideology.” What Baker suggests is that how we engage with issues of race and racism continue to evolve and reinvent across time and space. We (as scientists, as social scientists. . . as humans) are ruthless and relentless in our attempts to make race biological, as we continue to reshape and reimagine race. We cannot assume that Black people are exempt from certain types of diseases or genetic mutations. While ALS’s genetic complexity makes it hard to interpret test results, we cannot oversimplify these challenges with inaccurate and inattentive racialized thinking.
As SOD1 discoveries open up the possibility of gene therapy for diseases like ALS, it’s critical that we stay attuned to race and racism in order to avoid dangerous racialized impacts on genetic discoveries and future therapeutic implementation. We must take race out of conversations about human genetics and acknowledge science’s and especially anthropology’s complicated histories with race and racism. We must be more discerning in how we think about human genetic diversity or we risk replicating white supremacist thinking and furthering existing social inequities in health and medicine.