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
Friedreich's Ataxia With Alexis From Tennessee
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What does it really take to maintain independence when your body is changing?
For people living with rare diseases, that question becomes part of everyday life—navigating changes in mobility, access to care, and the challenge of finding the right support.
In this episode of Rare Connection, I speak with Alexis Baker, who shares her journey to a diagnosis of Friedreich's ataxia, a rare, progressive condition that affects coordination, balance, and independence. Like many in the rare disease community, Alexis went through multiple doctors and specialists before genetic testing provided answers.
We also take a moment to clarify an important distinction: “ataxia” is a symptom—referring to loss of coordination—while Friedreich’s Ataxia is a specific genetic disease that many people may not recognize until it impacts someone they know.
But Alexis’s story doesn’t stop at diagnosis.
She turned her experience into purpose by founding RiseUp, a nonprofit focused on helping people access mobility devices like walkers and wheelchairs—tools that can restore independence but are often out of reach due to cost.
In this conversation, we discuss:
- The early signs and long road to diagnosis
- What it’s like living with Friedreich’s Ataxia day to day
- The challenges of mobility, safety, and maintaining independence
- Barriers to accessing mobility equipment—and why patients often have to adapt
- The reality that many rare disease patients must travel long distances to reach specialists, often at academic medical centers
- And how new treatment options like Skyclarys are beginning to change the outlook for the FA community
This episode highlights a reality many patients face: access to care isn’t just about finding a doctor—it’s about being able to get there, having the right equipment, and having a community that understands the journey.