Article begins
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.
Our meanings and perceptions of gender modify the biases clinicians see in diagnosis.
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?