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FOXG1 doesn't just affect the person living with the diagnosis—it changes an entire family.

In this special episode of Rare Connection, I travel to Pennsylvania for my first in-person podcast interview with New Jersey advocate, author, and mother Patricia Geurds.

Patricia shares her daughter Kinsley's journey with FOXG1 syndrome, discussing the realities of hospitalizations, feeding tubes, a Broviac catheter, specialized surgeries, and the challenges of raising a child with a complex rare disease. She also explains how her family's experience inspired one child to become a nurse, another to become an author, and led her own path into advocacy.

Near the end of the conversation, Patricia opens up about the moment that changed her life. A conversation with her life coach helped her realize that sharing her family's story wasn't complaining—it was honoring both herself and her daughter. That realization transformed her approach to advocacy and helped her rediscover herself.

We also discuss PulsePoint Respond, a community CPR app, and Noom Vibes, a wellness app that encourages healthy habits and self-care.

Whether you're a caregiver, healthcare professional, researcher, advocate, or someone living with a rare disease, this episode is a reminder that sharing your story can create connection, understanding, and hope.

Topics discussed:

•  What is FOXG1 syndrome? 
•  Feeding tubes (G-tube, J-tube, NG tube) 
•  Broviac catheters and specialized surgeries 
•  Caregiving and hospital life 
•  Family resilience 
•  Rare disease advocacy 
•  Finding your voice through storytelling 

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n Part 2 of my conversation with Dr. Maggie Placer from EveryCat Health Foundation, we continue our discussion of the One Health approach and the surprising connections between veterinary and human medicine.

This episode explores how research that began with treating cats has contributed to a broader understanding of antiviral therapies and why researchers are now studying Remdesivir as a potential treatment for Long COVID in humans. While the research is ongoing, it highlights how collaboration across medical and veterinary fields can accelerate scientific discovery.

Whether you're interested in rare diseases, infectious diseases, veterinary medicine, or emerging medical research, this conversation offers a fascinating look at how breakthroughs can cross the boundaries between species.

If you missed Part 1, be sure to listen to the previous episode for the beginning of this conversation.

Guest: Dr. Maggie Placer, EveryCat Health Foundation

In this episode:

• What One Health means in practice
• How feline antiviral research has informed human medicine
• Why researchers are investigating antivirals for Long COVID
• The value of collaboration between veterinary and human healthcare

Thank you for listening to Rare Connection, where we connect patients, caregivers, clinicians, researchers, and advocates to educate, inspire, and advance awareness of rare diseases and emerging medical discove

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Welcome to Season 7 of Rare Connection!

What can cats teach us about human health?

In this episode, Joanna Ball welcomes Dr. Maggie Placer of the EveryCat Health Foundation to explore the growing field of One Health, the idea that the health of humans, animals, and our shared environment are deeply connected.

Dr. Placer begins with a special presentation highlighting the history of the EveryCat Health Foundation, advances in feline research, and how studies of Feline Infectious Peritonitis (FIP) have contributed to our understanding of coronaviruses, including COVID-19. The conversation then continues with an interview covering Dr. Placer's background, the Foundation's mission, and why collaboration between veterinary and human medicine is creating new opportunities for medical discovery.

Whether you're interested in rare diseases, translational medicine, veterinary science, or emerging research, this episode offers a fascinating look at how discoveries in one species can improve the lives of another.

In this episode:

• Dr. Maggie Placer's journey into veterinary medicine
• The mission of the EveryCat Health Foundation
• The One Health approach to research
• Feline Infectious Peritonitis (FIP) and its connection to COVID research
• How veterinary discoveries can advance human medicine

Thank you to Dr. Maggie Placer and the EveryCat Health Foundation for joining us to kick off Season 7 of Rare Connection.

If you enjoy the show, please subscribe, leave a review, and share this episode to help us continue connecting patients, advocates, researchers, clinicians, and industry leaders around the world.

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In this special third anniversary episode of Rare Connection, host Joanna Ball welcomes Dr. Marguerite A.W. Gorter-Stam for a conversation about quality of life, emotional well-being, patient-centered care, and the role hope can play during serious illness.

What began three years ago as Nutrition Equity—a podcast focused on access to medically necessary nutrition—has grown into Rare Connection, a global platform connecting patients, caregivers, advocates, researchers, and healthcare professionals. This episode also marks the show's tenth international interview and features a guest joining us from the Netherlands.

Dr. Gorter-Stam's background spans surgery, oncology, pediatrics, pediatric palliative care, and Make-A-Wish International. In this episode, we discuss how healthcare extends beyond diagnoses and treatments to include emotional support, quality of life, family-centered care, and helping patients navigate uncertainty.

We also explore common misconceptions about pediatric palliative care, the importance of involving patients and families in healthcare decisions, and how hope and resilience can influence the experience of illness.

Whether you're a patient, caregiver, healthcare professional, advocate, or simply interested in compassionate healthcare, this conversation offers valuable insight into the human side of medicine.

Topics discussed:
• Quality of life in healthcare
• Pediatric palliative care
• Patient and family-centered care
• Emotional well-being during illness
• Hope and resilience
• Caregiver support
• Make-A-Wish International
• International perspectives on healthcare

Thank you for being part of Rare Connection's journey over the past three years.

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In this episode of Rare Connection, host Joanna Ball speaks with Dr. Marc Hedrick, President and CEO of Plus Therapeutics, about emerging technologies aimed at improving outcomes for patients with some of the most difficult-to-treat cancers affecting the central nervous system.

Dr. Hedrick discusses leptomeningeal metastases (LM), a serious condition that occurs when cancer spreads to the membranes and fluid surrounding the brain and spinal cord, as well as recurrent glioblastoma, one of the most aggressive forms of brain cancer.

The conversation explores the challenges of diagnosing central nervous system cancers, the role of advanced diagnostic tools like the CNSide® CSF Assay Platform, and how targeted radiotherapeutics may help deliver treatment directly to affected areas while limiting exposure to healthy tissue.

Topics covered include:

• What leptomeningeal metastases are and why they are so difficult to diagnose
 • Current treatment challenges for LM and glioblastoma patients
 • The CNSide® diagnostic platform and cerebrospinal fluid testing
 • How radiotherapeutics differ from traditional radiation therapy
 • Targeted drug delivery to the central nervous system
 • Clinical trials and emerging research in neuro-oncology
 • The future of precision medicine for brain and spinal cancers

Whether you're a patient, caregiver, healthcare professional, researcher, or advocate, this episode provides insight into innovative approaches that may help transform the diagnosis and treatment of cancers that spread to the central nervous system.

To learn more about Plus Therapeutics and ongoing clinical research, visit https://plustherapeutics.com

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Subscribe to Rare Connection and Rare Chef, leave a review, and share this episode to help us connect patients, families, advocates, researchers, and medical professionals around the world.

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What happens when one rare condition affects the bones, skin, hormones, and development—but looks completely different in every patient?

“In this episode of Rare Connection, Joanna is joined by Dr. Adebola Giwa, a pediatric endocrinologist, physician-scientist, and clinical lead for rare disease drug development at Atossa Therapeutics. He brings more than 15 years of experience in endocrinology, musculoskeletal disease, and innovative therapeutic development for rare conditions.”

Together, they explore McCune-Albright Syndrome (MAS), a rare mosaic genetic condition that can affect multiple systems throughout the body. The conversation covers the variability of MAS, including café-au-lait skin findings, fibrous dysplasia, endocrine complications, and why no two patients experience the condition the same way.

A major focus of the discussion is precocious puberty, often one of the earliest signs of MAS. Joanna and Dr. Giwa discuss how hormone signaling differs in MAS, why traditional treatments do not always work as expected, and how different therapeutic approaches—including Tamoxifen, aromatase inhibitors, and endoxifen—are being explored.

The episode also touches on:

• How MAS can present differently in boys and girls
• Why conditions like Acromegaly can occur in some patients
• The challenges of designing clinical trials in ultra-rare diseases
• Why finding enough participants for studies can be so difficult
• The importance of continued rare disease awareness and research

Whether you are part of the rare disease community, a healthcare professional, researcher, caregiver, or someone wanting to learn more, this episode offers insight into the complexity of living with and treating McCune-Albright Syndrome.

This podcast is for educational and awareness purposes only and should not replace medical advice from a qualified healthcare professional.

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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.

🔔 Follow and subscribe to Rare Connection so you don’t miss future episodes connecting patients, families, and professionals across the rare disease community.

🌍 Rare Connection is available on YouTube, Buzzsprout, Apple Podcasts, Spotify, Amazon Music, and more.

⚠️ 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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