Diagnosis: What’s Wrong with Us

Sneha Mantri //

Netflix’s newest original series, Diagnosis, dropped on August 16, 2019. Each of the seven episodes is touted as a “medical mystery” to be solved through crowdsourcing. The concept is intriguing: harness the global reach of the internet to connect patients, families, and physicians, all working in concert to solve a complex case. And the show’s host, Dr. Lisa Sanders, certainly has the credentials to pull a crowd. On faculty at Yale School of Medicine and former consultant for the fictional medical mystery show House, Dr. Sanders is the author of 2009’s Every Patient Tells a Story: Medical Mysteries and the Art of Diagnosis as well as a new anthology, released in conjunction with her Netflix series and also titled Diagnosis, compiling the most unusual or compelling cases from her long-running New York Times column, titled—you guessed it—Diagnosis. Although Dr. Sanders functions more as showrunner than physician, the cover art for the series still places her at the center of a series of broken concentric circles depicting patients; the black halo around her head recalls religious iconography. This is a show, the image seems to shout, for those who need to be saved.

And indeed, the explicit message of Diagnosis (the show), as stated in the trailer, is to use social media to save lives. Unlike Diagnosis (the column), which included doctors’ notes as well as lab and imaging results, the show is relatively light on the medical details, though presumably they are available to the crowd offering diagnoses. Many, though not all, of the episodes do end with a definitive diagnosis and resolution, satisfying the public’s desire for an answer within the 45 minute timeframe of the show. This emphasis on a particular variant of the restitution narrative—one that offers perhaps not full restitution but closure—is pervasive in modern medicine, both in the media as well as actual clinical care. (Curiously, all the supposed mysteries are neurological in nature, which may reflect widespread neurophobia among physicians, or neurologists’ reputation as the brilliant Sherlock Holmeses of medicine. As a neurologist myself, I’d much prefer the latter.)

There are moments when the crowdsourced narrative falters badly, such as the tale of Sadie, the young girl with suspected Rasmussen encephalitis (a devastating inflammatory epileptic syndrome) whose parents, desperate for a more palatable cure than removing half their daughter’s brain, follow the crowd-sourced advice to take her to a Lyme specialist. It’s not clear from the episode whether Sadie ever had a tick bite, or whether she has any symptoms of Lyme disease, but no matter. The “Lyme-literate doctor” tells Sadie’s parents what they want to hear: that she has Lyme disease and can be cured with oral antibiotics rather than surgery. Closure and restitution is within reach! Perhaps unsurprisingly for any health care professionals reading this, however, Sadie spends the next six weeks seizing uncontrollably before her family gives up the Lyme theory. Ultimately, she is treated with NeuroPace, a closed-loop neurostimulator which is approved for refractory epilepsy in adults, not in 6-year-olds.

The differences between Sadie’s parents and her physicians, and the potentially devastating consequences, recalls Anne Fadiman’s brilliant book The Spirit Catches You and You Fall Down, which is also about a young girl with a severe epileptic syndrome. The tension in Spirit supposedly comes from the cultural disconnect between Lydia’s Hmong refugee parents and her California doctors; Sadie and her parents are American but the same cultural disconnect and uncertainty exists between them and her doctors. In my medical school, Spirit was taught as part of the cultural competency course in the preclinical years, where we sat around and wisely shook our heads at those arrogant doctors; we, of course, would not be anything like them. Ironically, Sadie’s story starts at that same medical school; although the earliest part of her course is elided, it seems clear that her parents were unconvinced by either the diagnosis of Rasmussen encephalitis or the proposed treatment of hemispherectomy, leading them to seek alternative explanations.

Diagnosis has another message, too, one that is far more serious: that the the systemic illness plaguing all its mystery patients is the failing US healthcare system. This is true in many of the episodes, but nowhere so overtly as the first, which features Angel, a young woman who has sudden attacks of global weakness, associated with dark brown urine. Through the crowdsourced New York Times platform, she connects with others who have similar symptoms, and eventually meets a research team from Italy who run genetic testing and diagnose her with CPT-2 deficiency, a metabolic myopathy.

However, CPT-2 deficiency, while rare, is no mystery. In the first minutes of the episode, Dr. Sanders tells Angel her symptoms sound like a metabolic myopathy, an enzyme deficiency wherein the body cannot process fats or carbohydrates (depending on the specific missing enzyme). The dark brown urine is a dead give-away: when the body cannot use its usual energy sources, it starts breaking down muscle; by-products of this life-threatening process end up in urine. Metabolic myopathy is not a complex diagnosis; it is routinely tested on first- and second-year student examinations and is bread-and-butter for any neurologist. Most metabolic myopathies, like most neurological diseases, can be diagnosed clinically, through careful history-taking about the duration of episodic weakness and triggers. Genetic testing is usually confirmatory.

Unfortunately, the episode is silent as to whether Angel ever saw a neurologist; we see her going to urgent care or the emergency room when she is imminently dying, and once stabilized, discharged with instructions to follow up with her primary doctor. The reason for lack of referral are never made clear, although at one point, an argument with her father about the cost of a doctor’s visit suggests that Angel may be uninsured or underinsured. Self-pay rates can be prohibitively expensive, and while most academic institutions (including UCLA, near Angel’s home) do offer some form of financial assistance, the paperwork barriers are nearly insurmountable for some patients.

On these issues, Diagnosis is silent. In the end, it’s apparently cheaper for Angel and her boyfriend to fly halfway around the world to Italy, where she can be seen and her blood tested for free. But in explicitly showing the lack of access to appropriate care, Diagnosis makes clear its implicit message. Whereas Diagnosis the New York Times column was about unusual cases, Diagnosis the Netflix show is about the experience of sick patients interacting with the healthcare system, trying to cobble together an explanation from its broken, jagged edges.

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