Netflix recently released a medical reality series called Diagnosis. The show is based on Dr. Lisa Sanders' column in the New York Times, in which she uses the NYT's unparalleled readership and reach to crowdsource diagnoses for patients needing answers.
The first episode follows Angel Parker, a young woman dealing with excruciating pain that keeps her from working and even walking. Her pain is severe and intermittent, and comes with dark “Coca-Cola” colored urine. After years of hospital visits, Parker still had no answers.
Dr. Sanders wrote a description of the case and turned it over to the masses, collecting over 1000 responses from doctors, patients, veterinarians, and hobbyists — anyone who read the article was free to submit their opinion about what was ailing Parker. Among the possible diagnosis was a disease that stuck out to both women: carnitine palmitoyltransferase 2 deficiency, or CPT2 deficiency.
CPT2 is a metabolic disorder in which patients can’t break down certain fatty acids, leading to muscle damage. To fuel a typical human day, the body relies on two sources of energy: carbohydrates and fats. Carboydrates are easier to burn, so those usually get used up first. But, what happens when the body needs more energy than expected?
If a person is exercising, or fasting, their cells turn to stored fats for a boost of energy. But in CPT2 deficiency, that system is broken and the body's cells are incapable of transporting fatty acids. Without this source of energy, muscle cells break down. That breakdown overwhelms the kidneys, darkens urine, and triggers excruciating pain.
This is exactly what Parker had, but she had to travel to Italy to find out. A team of doctors in Turin ran a gamut of metabolic and genetic tests to conclusively diagnose her with CPT2, giving her a satisfying ending to a long and painful medical struggle. And luckily, CPT2 can be fairly easily controlled by reducing fats in the diet.
But to me, the most striking detail about Diagnosis was not the metabolic disorder, but rather the show's subtext about healthcare in America. Parker suffered for years with no clear diagnosis. Even worse, she apparently had no screens for metabolic disorders at all (CPT2 is rare, but common enough that I originally learned about it from an undergraduate biochemistry class). Worse still, she says that she is deep in debt, being sued by doctors, and considering bankruptcy.
I’m not a doctor. I’m also not an economist. But when it makes more sense to fly halfway across the globe for a diagnostic test, it shouldn’t take either to see the underlying problem.