The Medical Detectives

Episode: "Elizabeth's Story: The Generational Mystery"

Date: September 17, 2025

Overview

This episode of The Medical Detectives dives deep into the generational medical mystery experienced by Elizabeth and her family—a multi-decade struggle against unrecognized symptoms, misdiagnoses, patient dismissal, and the systemic failings that often keep real answers out of reach. Hosts Dr. Erin Nance (orthopedic surgeon and health equity advocate) and Anna O’Brien (patient and content creator) walk with Elizabeth through her life, from childhood pain and fatigue to adult diagnoses, repeatedly dismissed symptoms, and finally, the elusive (and still contested) diagnosis of hypophosphatasia, a rare genetic bone disorder. Through Elizabeth's lens, this episode exposes the harm wrought by medical gaslighting and insurance barriers, showing how sometimes the greatest mysteries—and injustices—unfold in ordinary clinics and hospital corridors.

Key Discussion Points & Insights

1. Generational Patterns and Early Symptoms

• Elizabeth’s family has a long, confusing history of joint, bone, and lung issues, beginning with her mother, who underwent joint surgery at age 13 but never received an explanation.
• The response from physicians was dismissive: “bad genes,” with no further investigation despite clear red flags and severe symptoms.
• Elizabeth’s own childhood mirrored her mother's:
  • Extreme fatigue, late/abnormal tooth development (with no enamel), and ongoing, unexplained leg pain (“growing pains”).
  • Multiple joint/bone abnormalities (bowed legs, uneven knees), chronic fatigue labeled as laziness, early dental trauma, and repeated dismissal by doctors.

"Every time she would ask why, they just would tell her she had bad genes or just totally avoid the question altogether." —Elizabeth [04:05]

"There is no medical condition called growing pains. That is not a medical condition... Growing is not supposed to hurt." —Dr. Nance [09:18]

2. Medical Dismissal, Weight Bias, and Gaslighting

• Despite compliance and self-advocacy, Elizabeth (and her mother) are repeatedly told their symptoms are due to weight, laziness, or generic genetic misfortune.
• The shame and psychological toll are palpable; Elizabeth describes the trauma of being blamed for her dental issues and physical pain as a child and adult.

"You apply the feedback, and nothing changes. Right? So you’re like, am I doing it wrong?... you just kind of feel like, is it my own lack of ability to do the thing, which is its own version of stress..." —Anna O'Brien [07:55]

3. Adulthood: New Symptoms, Reproductive Health, and Misdiagnoses

• Young adulthood: Continues experiences of pain and fatigue, ignored or rationalized (e.g., blaming mattresses for severe back pain).
• Pregnancy: Intensifies symptoms (pain, brain fog, psychosis, hypersomnia), all dismissed as “it’s hot,” stress, or “normal postpartum.”
• Receives multiple diagnoses:
  • Hypothyroidism, Hashimoto’s, PCOS, vitamin D deficiency, and anemia, but treatments offer incomplete or fleeting relief.
• Encounters healthcare system roadblocks: insurance barriers, the abrupt ending of physician care, and medical professionals’ refusal to handle essential aspects of her health (“I don’t do thyroids.”).

4. Hashimoto’s Encephalopathy, Online Advocacy, & the Search for Answers

• Elizabeth turns to message boards for clues, discovering rare autoimmune and genetic disorders like Hashimoto’s encephalopathy and Hypophosphatasia.
• One online comment flags her low alkaline phosphatase level as highly significant—a hint dismissed by her physicians but ultimately crucial.
• Receives partial validation for some symptoms (abnormal TPO antibodies), but no one attempts to connect all her issues.

“There’s a couple tests that are kind of weird that she doesn’t include in her diagnosis. One of them was alkaline phosphatase. It was pretty low, but she had said, don’t worry. We only worry about alkaline phosphatase if it’s high.” —Elizabeth [29:38]

5. Escalating Physical Decline & Systemic Failures

• Ongoing pain described as “bones peeling apart,” worsening with time and unrelieved by standard therapies.
• Several attempted explanations (fibromyalgia, depression, MTHFR mutation), with repeated advice to lose weight.
• Receives functional medicine care (supplements, LDN); experiences partial, fluctuating relief.
• A series of pregnancies, miscarriages, and further complications (including molar pregnancy and risk of cancer) add to the complexity.

6. Breakthrough: A Rheumatologist Listens—And Acts

• The major shift comes when a new rheumatologist acknowledges her entire medical history, listens to her symptom descriptions, and investigates the significance of low alkaline phosphatase.
• Orders an extensive set of blood and imaging tests, suspecting hypophosphatasia based on Elizabeth's clinical picture, family history, and the pattern of lifelong symptoms.

“He just kept saying, like, this is not normal. This is weird. …I want to run some tests, and I think that you might have something called hypophosphatasia.” —Elizabeth [54:05]

• Testing is so unusual it “breaks” the hospital lab system, with staff unfamiliar with the rare tests.

7. Diagnosis Confirmed—But Access Denied

• After years—decades—of suffering, a genetic test definitively confirms hypophosphatasia.
• The only approved medication for adults, Strensiq (asfotase alfa), costs over $2 million/year—leading to immediate insurance denial, in part because the FDA-approved indication is for pediatric use only (and requires documentation of childhood symptoms).

“I get my first denial for Strensiq. And at that point, that’s when I figure out that Strensiq is very expensive.” —Elizabeth [72:14]

8. Bureaucratic Barriers & Systemic Injustice

• Insurance repeatedly denies coverage, citing lack of “childhood documentation” (which no longer exists).
• Elizabeth and her mother now know the “why” behind decades of pain, but access to care remains blocked.
• Both the hosts and Elizabeth explicitly condemn the insurance system that overrides medical judgment for cost reasons.

“You were managed. You were in a place where you were fine. Not fine, but as fine as you probably could get with medicine. Right. And because an insurance company...decides, do you really need this? Wipes it away from you.” —Anna O’Brien [63:18]

9. Reflections on Systemic Flaws and the Orphan Drug Dilemma

• Discussion shifts to the broken incentives in pharmaceutical pricing for orphan drugs, lack of cost ceilings, and how the insurance system shifts costs rather than solving problems.
• The episode ends with calls for patient advocacy and systemic change, with Elizabeth remaining in limbo and hosts expressing solidarity and frustration.

“…for most insurance companies, people are changing jobs every couple of years, so they have no incentive to see the long term benefit for the patient...That’s exactly what happened in this situation.” —Dr. Nance [87:11]

Notable Quotes & Memorable Moments

• Elizabeth, on how perpetual dismissal shapes self-perception:

  "I thought people probably thought I was lazy...even though I definitely was [participating]. And then I'm tired all the time. So obviously, obviously, it's because she's overweight." [14:13]

• On clinicians ignoring key findings:

  “Low alkaline phosphatase…everybody tells me not to worry about it because it's low. It's when it's high that it's an issue.” —Elizabeth [53:18]

• Dr. Nance, on the workup that should have happened decades ago:

  “…the workup for those essential minerals and enzymes should have been the very first test that should have been ordered.” [74:35]

• Anna, voicing shared outrage:

  "And I will fight anyone who disagrees. Like, literally, we'll fight you. I've been doing strong, man. I'm real strong now. I will win." [86:00]

Timestamps for Important Segments

| Timestamp | Segment/Topic | |-------------|---------------------------------------------------------------| | 01:17-03:20 | Mother's unexplained medical history and dismissive treatment | | 04:05 | Repeated blaming of “bad genes” and avoidance by doctors | | 08:14-12:54 | Childhood fatigue, pain, exclusion in sports; “growing pains” | | 13:12-15:35 | Early orthopedic evaluation and lack of further workup | | 20:26-25:44 | Pregnancy: pain, psychosis, and postpartum thyroid issues | | 29:38-32:42 | Community forum “detective work” and the first mention of hypophosphatasia | | 37:00-42:35 | Adult-onset escalating pain; “bones peeling apart” | | 52:54-57:41 | New rheumatologist takes her history seriously, pursues rare disease workup | | 72:14-79:13 | Confirmed diagnosis, astronomical drug cost, and insurance denial | | 83:40-84:22 | Her children tested—thankfully negative for the mutation | | 87:11-91:05 | Hosts’ debrief on orphan drug law, NIH, and insurance obstacles|

Tone & Language

• Empathetic, relatable, and unfiltered: Elizabeth is open about her struggles, but also direct about her anger at the system. Anna is outspoken, sometimes fierce (“I will fight you”), always grounded in personal connection. Dr. Nance provides clinical context, upholds the seriousness, and chimes in with frustration at medical and insurance barriers.
• Educational: The episode explains medical concepts (e.g., “growing pains” are not a diagnosis; what low alkaline phosphatase might mean; rare diseases and orphan drugs), demystifying arcane clinical language.
• Frustrated and righteous: The dominant mood is of shared frustration at institutional inertia and injustice, punctuated by moments of hope and solidarity.

Takeaways

• Medical Red Flags Get Ignored: Classic symptoms of rare (and sometimes treatable) diseases are often labeled as generic bad luck, especially in women and overweight patients.
• Documentation Deficit: The lack of accessible childhood records can create lifelong barriers to care for genetic diseases, especially with strict insurance or FDA prerequisites.
• Insurance as Brick Wall: Even a confirmed rare disease diagnosis does not guarantee access to life-changing (or even life-saving) treatment.
• Patient-Driven Diagnosis: Online communities and relentless self-advocacy can sometimes be more effective than years of medical visits.
• Need for Systemic Reform: The episode closes emphatically calling for changes in insurance, pharmaceutical pricing, and acknowledgment of the patient experience in both diagnosis and care.

If you or someone you know is struggling with mysterious or persistent health issues, Elizabeth’s journey stands as a testament to the necessity—and power—of self-advocacy, finding the right clinician, and refusing to give up on getting answers.

For More:

• Submit your own story: stories@themedicaldetectivespodcast.com
• Next week’s topic: TBA

Summary by Podcast Summarizer AI. For more detailed timestamps and discussion, see transcript above.