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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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If you or someone you know is struggling, support is available. In the U.S., you can call or text 988, the Suicide and Crisis Li

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What if two of your children were diagnosed with two completely different rare genetic conditions… on the same day?

In this episode of Rare Connection, I speak with Jenny, a mother of four, whose children Avery and Paxton were both diagnosed through whole exome sequencing with two separate rare diseases — Phelan-McDermid Syndrome and Tatton Brown Rahman Syndrome. Both conditions are genetic, but not inherited. They are de novo mutations, meaning they occurred for the first time in her children.

Avery, now 19, has Phelan-McDermid Syndrome, a condition often associated with autism, developmental delay, speech impairment, and hypotonia. Paxton, 12, has Tatton Brown Rahman Syndrome, a rare overgrowth and neurodevelopmental disorder linked to developmental differences, autism traits, and intellectual disability.

Jenny shares what it was like to receive both diagnoses at once, how her family adapted, and how her daughters Kaylin and Presley have become supportive siblings along the way. She also discusses her work as a behavior analyst and her advocacy efforts in the rare disease community, including her role with CureSHANK and support within the Tatton Brown Rahman Syndrome community.

This episode highlights the reality that rare diseases don’t always follow predictable patterns—and that even across different diagnoses, families often share common experiences in navigating care, finding support, and building resilience.

💬 Have a question or want to share your experience? Use the “Send Me a Text” link in the show notes.

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⚠️ Disclaimer: This podcast is for educational purposes only and is not intended to provide medical advice. Please consult a qualified healthcare professional for medical concerns.

❤️ If you or someone you know is struggling, help is available. In the U.S., you can call or text 988 for the Suicide and Crisis Lifeline, or visit 988lifeline.org.

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In this episode of Rare Connection, I’m joined by physician-scientist and biotech CEO Dr. Steven Quay to discuss an emerging approach to treating Duchenne muscular dystrophy—and how innovation in one area of medicine may open doors for others.

Dr. Quay is the CEO of Atossa Therapeutics, where his team is developing (Z)-endoxifen, a next-generation endocrine therapy originally studied in breast cancer. Unlike tamoxifen, which must be metabolized in the body, (Z)-endoxifen delivers the active compound directly—helping to reduce variability between patients and improve consistency in dosing and response.

What makes this conversation especially important for the rare disease community is the potential application of this therapy in Duchenne muscular dystrophy. Research suggests that (Z)-endoxifen may help increase levels of utrophin, a protein that could compensate for the lack of dystrophin in individuals living with Duchenne.

We also discuss:

• What makes Duchenne muscular dystrophy a target for this type of therapy
• The significance of Orphan Drug Designation
• How drugs developed for one condition may have applications in others
• The challenges of bringing new treatments from research to patients

Duchenne muscular dystrophy affects approximately 1 in 3,500 to 5,000 boys worldwide, and while progress is being made, many families are still waiting for effective, accessible treatments.

👉 Coming Next:
During this conversation, Dr. Quay also introduced the potential application of (Z)-endoxifen in McCune-Albright syndrome, an ultra-rare condition. We’ll be continuing this discussion in a follow-up episode focused specifically on that topic.

This episode offers insight into how innovation in drug development may create new possibilities—not only for Duchenne, but for the broader rare disease community.

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⚠️ Disclaimer

This podcast is for informational and educational purposes only and is not intended as medical advice. Always consult with a qualified healthcare professional regarding any medical condition or treatment.

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What is it like to live with multiple rare brain malformations and severe epilepsy?

In this episode of Rare Connection, Joanna speaks with Glenn Schallman, who has been diagnosed with three extremely rare neurological conditions:

• Schizencephaly
• Polymicrogyria
• Hypothalamic Hamartoma

For more than fifteen years Glenn lived with 10–20 seizures every day, severe head pain, and neurological symptoms that dramatically impacted his life.

Schizencephaly is an ultra-rare brain malformation that occurs during fetal development. It creates abnormal clefts in the brain, which can lead to symptoms such as:

• frequent seizures or epilepsy
• muscle weakness or paralysis on one side of the body
• developmental delays
• speech and communication difficulties
• coordination and balance problems
• learning disabilities

Because these symptoms can overlap with many neurological disorders, people often spend years searching for answers before receiving a diagnosis.

Glenn’s case was especially complex because he also lives with polymicrogyria, a disorder that affects how the brain’s cortex folds, and hypothalamic hamartoma, a rare lesion that can trigger severe epilepsy.

For years doctors believed his condition was inoperable.

Everything changed in 2017 when neurosurgeon Dr. Michael Nakaji at the Barrow Neurological Institute performed a complex surgery to partially remove and disconnect the hamartoma. The procedure reduced Glenn’s seizures from dozens per day to just a few per week.

Another extraordinary part of Glenn’s journey is his seizure-alert cat, Blake. Blake learned to detect Glenn’s seizures and wake him during dangerous episodes, and his lifesaving actions earned him the 2016 Humane Award from the ASPCA.

Today Glenn continues to advocate for epilepsy awareness and rare brain disorders, sharing hope with others navigating complex neurological conditions.

Topics Discussed

• schizencephaly and brain malformations
• epilepsy and frequent seizures
• polymicrogyria and cortical development disorders
• hypothalamic hamartoma
• seizure alert animals
• rare disease advocacy and resilience

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United States: Call or text 988 for the Suicide and Crisis Lifeline.

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This Rare Disease Awareness Month, I’m honored to share the extraordinary survival story of writer, performer, and patient advocate Taylor Coffman.

After giving birth to her daughter, Taylor experienced a catastrophic medical crisis now being reconsidered by experts as pregnancy-induced complement-mediated thrombotic microangiopathy — a name that more accurately reflects what happens when childbirth triggers uncontrolled complement activation and widespread clotting.

Historically, cases like Taylor’s were often labeled as “aHUS,” but many clinicians now believe that pregnancy-induced, complement-mediated clotting disorders represent a distinct subtype.
There is no single diagnostic test for this condition.
But there is lifesaving treatment — and early recognition is everything.

Taylor's story could truly help someone else survive.

Within hours of delivery, she developed systemic clotting, went into multi-organ failure, suffered a heart attack, and her kidneys shut down completely. She spent weeks near death in the ICU and required nine months of dialysis — yet she miraculously recovered without a transplant.

One moment she shares is unforgettable: lying in the ICU, convinced the rhythmic clicking of the dialysis machine was repeating, “live or die… live or die.” In that moment, she made the decision to fight.
Today, both she and her baby are alive.

In this episode, Taylor opens up about:
• How childbirth triggered a rare complement-mediated clotting disorder
• Why experts want to rename this condition for better recognition
• The challenges of diagnosing a condition with no definitive test
• ICU trauma, hallucinations, and the mental fight to survive
• Postpartum depression and the emotional reality of medical crisis
• Dialysis, recovery, and the miracle of kidney healing
• Motherhood, disability, identity, and rediscovering purpose
• The one question that helped save her life

Taylor’s journey is one of the most medically extraordinary stories we’ve ever shared on Rare Connection. It also carries a critical message for clinicians: if the name changes, early diagnosis may follow — and more patients could survive.

Content Notes

This episode includes discussion of postpartum depression, ICU trauma, and medical emergencies involving childbirth. Please take care while listening.

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Listeners can comment on YouTube or use the “Send Me a Text” link in the show notes.

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Support the show and help amplify rare disease stories by sharing this episode.

Suicide Prevention Resources

If you or someone you know is struggling, please reach out:
• Call or text 988 in the U.S.
• Text HOME to 741741
• International helplines: https://www.iasp.info/crisis-centres-helplines/

You are not alone.

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This episode features Candace, who lives with spinal muscular atrophy (SMA), a rare genetic and progressive neuromuscular condition. Diagnosed at 18 months, she shared her early experiences growing up with SMA, including navigating mobility loss and accessibility barriers throughout childhood.

Candace talked about her early career in the entertainment industry and the challenges she faced as a disabled Black woman, eventually choosing to leave the industry for a more stable career in public service. She now serves as the Chief Equity Officer for California’s Department of Rehabilitation.

A lifelong advocate, Candace discussed her work in diversity, equity, inclusion, and accessibility, and the creation of her nonprofit, I Am Abled Inc., which supports young adults with disabilities transitioning into adulthood. She emphasized the importance of representation, community, and listening to patient experiences—especially for those living with progressive conditions like SMA.

Candace also offered advice for families newly diagnosed with SMA, encouraging unconditional love, education, and support while highlighting the need for medical providers to recognize the emotional aspects of disability.

Visit candiswelch.com for more information

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