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When doctors don't know what's wrong

Unexplainable

32m
Transcript

Original podcast

Summary

Written by a model from the transcript; not yet reviewed.

Health and science journalist Alexandra Sifferlin joins the host to discuss her book, The Elusive Body: Patients, Doctors, and the Diagnosis Crisis. Sifferlin explores the widespread problem of diagnostic error through the decades-long journey of Louise Proctor, a Kentucky woman who experienced debilitating leg pain and was eventually diagnosed by the National Institutes of Health with a rare, newly named genetic condition called ACDC. The episode examines how systemic issues like severe time constraints, rushed appointments, and poor medical coordination contribute to diagnostic failures, while highlighting the unique model of the Undiagnosed Diseases Network as a potential blueprint for more human and thorough patient care.

  • Nearly every person will experience at least one diagnostic error in their lifetime, according to a 2015 report by the National Academies of Sciences, Engineering, and Medicine. 2:03
  • Doctors are often forced to rush through appointments because they must see twenty patients a day while typing into electronic health records. 22:06
  • Patients frequently have to act as their own coordinators, carrying physical binders of medical history between disconnected specialists. 22:58

Chapters

  1. 0:00
    Podcast Intro and Sponsorship

    Hosts introduce the show and acknowledge Google Gemini sponsorship.

  2. 0:38
    College Football Promotion

    A brief ad segment promoting Hilton and sports hospitality.

  3. 1:10
    Introduction to Diagnostic Crisis

    Alexandra Siverland explains her research into diagnostic errors and introduces the book.

  4. 3:00
    Louise Proctor’s Early Symptoms

    The story of Louise Proctor’s mysterious leg pain and initial medical encounters.

  5. 4:30
    Family Tragedy and Diagnosis Effort

    Louise’s daughter’s death and her intensified search for answers.

  6. 6:00
    NIH Undiagnosed Diseases Program

    The Proctor case enters the NIH program, leading to multidisciplinary investigation.

  7. 8:00
    Discovery of CD73 Deficiency

    Researchers link a mouse gene study to Louise’s condition, diagnosing ACDC.

  8. 10:00
    Implications and Future Directions

    Discussion of the disease’s rarity, potential treatments, and lessons for healthcare systems.

Highlights

  • 2:03

    High Rates of Diagnostic Errordata

    A comprehensive 2015 report concludes that nearly every person will experience at least one diagnostic error during their lifetime, sometimes with devastating outcomes.

  • 4:01

    Legs Turning to Stonestory

    Louise Proctor began experiencing excruciating pain where her legs felt like they were turning to stone, leading to decades of misdiagnoses and disbelief from doctors.

  • 7:19

    The Power of a Nameinsight

    Even when a diagnosis brings bad news or lacks a cure, having a name for a condition provides a social and psychological context that helps communities support patients.

  • 13:54

    The Undiagnosed Diseases Network Modelstrategy

    The NIH program brings together multi-disciplinary teams of geneticists and neurologists to review complex cases collaboratively before and after patient visits.

  • 18:00

    A Rare Enzyme Deficiencydata

    After thirty years of searching, researchers discovered that Louise Proctor and her siblings had an abnormal buildup of calcium caused by a deficiency of the CD73 enzyme.

  • 22:06

    Systemic Constraints on Physiciansinsight

    Physicians note that seeing twenty patients a day and spending appointments typing into electronic health records makes it difficult to listen or think deeply.

Quotes

  • “And they end up concluding that nearly every person will experience at least one diagnostic error in their lifetime, sometimes with devastating consequences.”
    Unnamed speaker · 2:03
  • “which helped them figure out that the problem here was a deficiency of an enzyme called CD73.”
    Unnamed speaker · 18:00
  • “She says there are lessons to be learned here, even if we're trying to diagnose more regular things.”
    Unnamed speaker · 20:23
  • “diagnostic error is this thorny, complex problem connected to a lot of different systemic issues.”
    Unnamed speaker · 21:13
  • Google Gemini 0:00–0:30
  • Hilton 0:38–0:57

About this episode

A 2015 review found that most people in the US will experience a diagnostic error in their lifetime. Some of those errors are less devastating than others, but how can we help people get better answers about their health? One family's search for answers with a mystifying illness highlights a different approach to diagnosis. Guest: Alexandra Sifferlin, author of The Elusive Body: Patients, Doctors, and the Diagnosis Crisis and deputy science editor at the New York TimesFor show transcripts, go to ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠vox.com/unxtranscripts⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠For more, go to ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠vox.com/unexplainable⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠And please email us! ⁠⁠⁠[email protected]⁠⁠⁠We read every email. Support Unexplainable (and get ad-free episodes) by becoming a Vox Member today: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠vox.com/members⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Thank you! Learn more about your ad choices. Visit podcastchoices.com/adchoices

Transcript

0:00
32:21

5,111 words · 8 speakers

Topics

  • Undiagnosed Diseases Network
  • National Academies of Sciences, Engineering, and Medicine
  • Apple Watch Series 12
  • Born in Roma Fragrances by Valentino Beauty
  • The New York Times
  • The Elusive Body
  • University of Pittsburgh
  • Undiagnosed Diseases Program
  • Vox Media Podcast Network
  • National Institutes of Health

Page updated · transcript and summary are machine-generated