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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.

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Elisa's son, Aidan, was born healthy—but by first grade, he began losing his vision. He was later diagnosed with adrenoleukodystrophy (ALD), a rare genetic condition that progresses rapidly without early intervention. Aidan passed away at just 7 years old.

After his diagnosis, Elisa learned that a newborn screening test for ALD already existed—but it had not been implemented in her state at the time.

In this episode, Elisa shares Aidan’s story and how she turned her grief into advocacy. She played a key role in passing ALD newborn screening in New York and is now advancing Aidan’s Law (H.R. 534) to expand screening nationwide.

We also discuss her work with the newly launched coalition, Surge to Save Newborns, and a first-of-its-kind study outlining state-by-state gaps in newborn screening and the resources needed to ensure all babies have access to recommended tests.

This conversation highlights a critical issue: babies across the United States face unequal access to life-saving screening based solely on where they are born.

ALD Alliance- Aiden Jack Seegar Foundation ALD Alliance - Aidan Jack Seeger Foundation for Adrenoleukodystrophy

Surge to Save Home - Surge to Save Newborns

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What does life look like decades after a rare cancer diagnosis—and how does food play a role in that journey?

In this episode of Rare Connection, Joanna sits down with Chuck Hayworth, a 26-year survivor of a rare stomach tumor, whose experience transformed not only his health—but his life’s work.

Today, Chuck is a private chef and Medical Meal Therapy specialist, helping patients and caregivers navigate one of the most overlooked challenges after diagnosis: how to actually implement nutrition in daily life.

Because while many patients are told what they should eat, very few are given the tools to make that sustainable—especially when managing chronic illness, cancer recovery, or complex medical conditions.

Together, they discuss:

• What it means to truly live beyond a rare disease diagnosis
• The connection between gut health, inflammation, and recovery
• Why nutrition is often the missing link between medical advice and real life
• How patients and caregivers can align their meals during treatment and healing
• The challenges of turning clinical guidance into practical, everyday food choices

This conversation also highlights a broader issue within healthcare—while policies like the Medical Foods and Formulas Access Act support individuals with certain conditions requiring specialized nutrition, many patients outside of those categories are still left trying to navigate these decisions on their own.

Chuck’s story is one of resilience, adaptation, and purpose—and a reminder that healing doesn’t always follow a straight path.

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⚠️ Disclaimer

This podcast is for educational purposes only and is not intended to replace medical advice. Always consult with a qualified healthcare professional regarding your individual health needs.

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