#387 The Hidden Work of Rare Disease: Navigating a Broken Healthcare System

In this special live recording from The University of Connecticut’s 2026 Rare Disease Symposium, host Kira Dineen, moderates a powerful panel featuring individuals living with rare conditions. The conversation moves beyond clinical diagnostics to explore the "hidden work" of navigating the healthcare system, the trauma of medical dismissal, and the fierce advocacy required to survive and thrive in a complex medical landscape.

Shoutout to the lead organizer Anthony Zuo for putting this conference together.

The Panel (in order of appearance)

David (Dave) Leeds: Lives with Hereditary Angioedema (HAE) with normal C1 inhibitor (specifically the HS3ST6 gene mutation), a type of HAE that affects fewer than 20 people worldwide. He also advocates for his son, who has Specific Antibody Deficiency.

Kate Tokarski: A social worker and former paramedic living with three conditions: vitiligo, type 1 diabetes, and SUNCT syndrome (short-acting unilateral neuralgiform headache with conjunctival injection and tearing). She navigates a "rare family" dynamic, including children affected by gastroparesis, keratoconus, juvenile arthritis, celiac disease, ampfield pain syndrome, COPA syndrome, and median arcuate ligament syndrome.

Jill Gassman Zullo: Lives with Sinus Nasal Mucosal Melanoma, a rare cancer affecting less than 1% of the population. She is the author of Brokenly Beautiful.

Jonathan Cappiello: After 20 years of having a misdiagnosis, he was correctly identified as having a nano-rare disease, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. He is also the host of 1 of 20 podcast.

Topics Discussed The Burden of Expertise

A recurring theme is the "expert patient." Panelists describe the exhaustion of knowing more about their conditions than the providers treating them. Kira emphasizes the importance of medical professionals being comfortable saying, "I don't know," rather than muddling through an answer.

Navigating the Emergency Room

David describes the danger of ER protocols. For HAE patients, standard allergy treatments like EpiPens and steroids do nothing for their Bradykinin-based swelling, which can be fatal if it affects the throat. The panel discusses "Medical PTSD" and why the ER is often a place of last resort.

The Battle with Insurance and Systems

Kate shares a heartbreaking story of "Systemic Trauma":

• The Insurance Loop: Her daughter was denied a life-changing medication due to a bureaucratic glitch.
• The School-to-Court Pipeline: Because she missed school due to her autoimmune crises, Kate was reported for neglect, and her 16-year-old was read her Miranda Rights in family court for being a "truancy outlier."

The Power of Community and Storytelling

Jonathan discusses his journey as a science podcaster, using his background in film and journalism to give a platform to others with rare diagnoses. The panel highlights how storytelling is a form of survival and a tool for systemic change.

Relevant Resources:

• • Jill Gassman Zullo’s book Brokenly Beautiful

• Jonathan Cappiello’s podcast 1 of 20 podcast

• Kate Tokarski’s poem I Was 'That Mom'
• National Organization for Rare Disorders (NORD)
• Undiagnosed Disease Network (UDN)
• Genetic and Rare Diseases Information Center (GARD)

Relevant Rare Disease Patient Advocacy Stories on DNA Today:

#380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I

#371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy

#372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy

#356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases

#342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency

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