Rare Connection
Rare Connection is a podcast dedicated to rare diseases, undiagnosed conditions, patient advocacy, medical research, and the people working to improve the lives of those living with rare disorders.
Originally launched as Nutrition Equity, the podcast expanded into Rare Connection to reflect its broader mission: sharing the stories, science, and research behind all 10,000+ known rare diseases—not just those related to the Medical Nutrition Equity Act.
Each episode features conversations with patients, caregivers, physicians, researchers, nonprofit leaders, advocates, and biotechnology experts. Together, we explore rare diseases, genetic disorders, newborn screening, clinical trials, emerging treatments, healthcare policy, diagnostic journeys, and the challenges of living with conditions that are often misunderstood.
In medicine, common conditions are often referred to as "horses," while rare diseases are known as "zebras." Although each rare disease affects relatively few people, more than 300 million people worldwide live with a rare disease. Collectively, rare diseases impact more people than many realize, yet they are frequently underdiagnosed, misdiagnosed, or diagnosed only after years of searching for answers.
I host this podcast not only as an advocate, but also as someone living with Homocystinuria (HCU), a rare inherited metabolic disorder. I understand firsthand how isolating a rare diagnosis can be and how important education, research, and community are for patients and families.
Whether you are a patient, caregiver, healthcare professional, researcher, policymaker, student, or simply curious about rare diseases, Rare Connection aims to educate, inspire, and connect people through real conversations and expert insights.
Video episodes are available on YouTube through Rare_Chef, with audio available on all major podcast platforms.
If you have a rare disease, undiagnosed condition, or work in rare disease research, advocacy, or healthcare and would like to be a guest, I'd love to hear from you. Please contact me at joanna.ball41@gmail.com.
Rare Connection is more than a podcast—it's a growing community. Beyond sharing educational interviews, I help connect patients and families with rare disease organizations, Facebook support groups, advocacy groups, clinical trial information, researchers, and others who may be able to provide support or answer questions. Sometimes the most important step is simply helping someone realize they are not alone.
Rare Connection
Idiopathic Intercranial Hypertnsion with Stephanie From Maryland
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In this episode of Rare Connection, host Joanna speaks with Stephanie from the EveryLife Foundation for Rare Diseases, who shares her journey living with Idiopathic Intracranial Hypertension (IIH)—a rare neurological disorder involving increased pressure around the brain with no detectable cause.
Stephanie opens up about the long path to diagnosis, the life-altering symptoms of IIH, and how she eventually accessed treatment through an off-label use of a GLP-1 weight loss drug—a medication not FDA-approved for IIH, but one that is showing promise in reducing spinal fluid pressure in patients. She discusses the immense challenge of navigating insurance to access this treatment and what others might expect if considering a similar path.
In addition to sharing her personal health story, Stephanie discusses her powerful work as the program manager of the Rare Artist Program and Rare Disease Scholarship Program at the EveryLife Foundation. These initiatives uplift voices in the rare disease space through creativity and education, offering platforms for patients and caregivers to thrive.
🎯 In This Episode:
- What it’s like to live with Idiopathic Intracranial Hypertension (IIH)
- The role of GLP-1 medications in off-label treatment of IIH
- The fight to get off-label treatments covered by insurance
- How art and advocacy helped Stephanie regain purpose
- Ways to get involved in the Rare Artist Program and Rare Disease Scholarship
🔗 Links & Resources:
- EveryLife Foundation: https://everylifefoundation.org
- Rare Artist Program: https://rareartist.org
- Rare Disease Scholarship: https://everylifefoundation.org/rare-scholarship
- More on GLP-1 drugs and IIH: https://pmc.ncbi.nlm.nih.gov/articles/PMC10151178/
💬 Join the Conversation:
- Leave a comment on YouTube
- Or send Joanna a text using the link in the show notes!
📱 Follow Rare Connection:
- Facebook: https://www.facebook.com/profile.php?id=100095564621062
- X (formerly Twitter): https://x.com/Rare_Connection
- LinkedIn: Rare Connection Inc.
🛒 Support the Show:
- Grab Rare Chef merch: https://www.bonfire.com/invisible-disability-rare-disease-awareness/
- Or click the Support the Show link in your podcast app
📞 Mental Health & Crisis Support:
If you're struggling, you are not alone:
- Call the Suicide & Crisis Lifeline at 988
- Or text HELLO to 741741 to reach the Crisis Text Line
Chapter Markers
00:00 Intro
00:44 Medical disclaimer
00:56 Introducing Stephanie
01:52 diagnosis story
02:33 Right eye goes lazy
02:58 Doctor orders MRI
03:10 Stephanie passes out
03:35 Spinal Tap
05:08 Diamox prescribed
05:46 Learning to adapt
07:50 Stephanie doesn't know when her symptoms started9:10 Undiagnosis
09:42 Burden of diagnostic challenge study