Joshua Resnikoff was a bench scientist at Harvard's Wyss Institute, surrounded by cutting-edge science. He believed healthcare could solve anything. Then his son started having unexplained recurring fevers. Monthly ER visits. Ice baths to prevent seizures. Years of diagnostic uncertainty. Finally, a diagnosis: PFAPA, a hyper-inflammatory condition so rare only 500 kids in the US have it. The doctor's response? "There's nothing we can do. It's not terminal, so don't worry about it."That was his red ...
Joshua Resnikoff was a bench scientist at Harvard's Wyss Institute, surrounded by cutting-edge science. He believed healthcare could solve anything. Then his son started having unexplained recurring fevers. Monthly ER visits. Ice baths to prevent seizures. Years of diagnostic uncertainty. Finally, a diagnosis: PFAPA, a hyper-inflammatory condition so rare only 500 kids in the US have it. The doctor's response? "There's nothing we can do. It's not terminal, so don't worry about it."
That was his red pill moment.
On this episode of Ditch the Labcoat, Dr. Mark Bonta sits down with Joshua, founder and CEO of Sunstone Health, to explore what happens when families get trapped in the diagnostic odyssey. Joshua built a platform that compresses a seven-year diagnostic journey into 12 weeks by using AI to find hidden rare disease patients buried in insurance claims data.
Dr. Bonta and Joshua tackle the hard questions: What happens when doctors don't know what's wrong? Why does the healthcare system fail zebra patients while teaching doctors to only look for horses? And what role does physician attitude play in solving diagnostic mysteries?
If you've ever felt dismissed by the healthcare system or wondered whether AI can actually help real patients, this conversation will challenge everything you thought you knew about precision medicine and patient advocacy.
Joshua Resnikoff's Website : https://www.sunstonehealth.com/
Episode Takeaways
1. The diagnostic odyssey for rare diseases averages 7 years—Sunstone compresses it to 12 weeks using AI and insurance claims data.
2. "There's nothing we can do" isn't medical reality—it's often a failure of attitude, not knowledge or skills.
3. Rare disease families are desperate for answers, making them vulnerable to predatory experimental treatments and unproven therapies.
4. Health plans, not patients, are Sunstone's customers—financial incentives align when undiagnosed kids cost insurers millions in repeated ER visits.
5. Doctors are taught "when you hear hoofbeats, think horses not zebras"—but 2% of hospital patients are zebras with no diagnosis after 24 hours.
6. Genetic testing isn't just about diagnosis—it's about getting specialty guidance back to local doctors so families don't travel hours for care.
7. Patient data ownership matters—families should control their genetic reports and medical records, not insurance companies.
8. Expanding from genetic epilepsy into autism, familial hypercholesterolemia, and other rare diseases—the goal is to be infrastructure for all non-oncology genetic disease.
Episode Timestamps
04:11 – The Red Pill Moment: "There's Nothing We Can Do"
07:07 – Building Community: From Desperation to Action
11:42 – How Sunstone Works: Finding Hidden Patients in Claims Data
19:22 – Seven Years to 12 Weeks: Compressing the Diagnostic Odyssey
25:17 – Zebras vs. Horses: When Rare Disease Becomes Your Reality
33:46 – The Attitude Problem: Why Doctors Give Up on Diagnostic Mysteries
37:48 – Medical Desperation: Experimental Treatments and Predatory Care
45:38 – The Future: Expanding Beyond Epilepsy into Autism and Beyond
DISCLAMER >>>>>> The Ditch Lab Coat podcast serves solely for general informational purposes and does not serve as a substitute for professional medical services such as medicine or nursing. It does not establish a doctor/patient relationship, and the use of information from the podcast or linked materials is at the user's own risk. The content does not aim to replace professional medical advice, diagnosis, or treatment, and users should promptly seek guidance from healthcare professionals for any medical conditions.
>>>>>> The expressed opinions belong solely to the hosts and guests, and they do not necessarily reflect the views or opinions of the Hospitals, Clinics, Universities, or any other organization associated with the host or guests.
Disclosures: Ditch The Lab Coat podcast is produced by (soundsdebatable.com) and is independent of Dr. Bonta's teaching and research roles at McMaster University, Temerty Faculty of Medicine and Queens University.
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