For years, Angel Parker, a nurse in her mid-20s, experienced daily bouts of excruciating pain that started in her legs and shot up her back. As a high school athlete, she became so debilitated she had to cut most physical activity — and suffered the consequences when she dared to go on an occasional light hike.
Tests for lupus and multiple sclerosis came back negative. No one could figure out what was wrong, and Parker’s discouraged parents fell into deep debt as they sought answers to what was causing their daughter’s agonizing and vexing symptoms.
In the engrossing new documentary series Diagnosis, from Netflix and The New York Times, Parker finally gets an answer. The seven-part show is based on Diagnosis, the long-running New York Times Magazine column by Dr. Lisa Sanders that follows patients searching for a name, and hopefully a cure, for their maladies. In effect, Diagnosis aims to answer a simple yet sometimes deceptively complex question: “Doctor, what’s wrong with me?”
For Parker, the answer finally comes via Marta, a researcher in an Italian pediatric hospital specializing in metabolic diseases. She reads Sanders’ column and reaches out to the doctor with some hunches. Parker travels to Italy for a comprehensive genetic analysis, and two months later, scientists there deliver remarkable news to her and her boyfriend Mac over video chat.
They’re 100 percent sure Parker has Carnitine Palmitoyltransferase Deficiency, a rare enzyme deficiency that causes muscle pain and weakness, among other symptoms but can be easily managed through lifestyle changes.
“It’s crazy what the internet can do,” Parker says through joyful tears in the episode that follows her story. “It just took one person from Italy and now I am a completely different person. There’s no more wondering. There’s no more mystery.”
This is exactly the sort of outcome Sanders, a professor of internal medicine at Yale University, hoped for when she decided to combine crowdsourcing, social media and medical expertise by inviting readers to ponder the cases she writes about and send in videos detailing their theories and personal experiences with similar ailments. Each episode tells the story of how crowdsourcing led to insights that had previously eluded doctors…..Read more>>