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What happens after a family finally gets a name for a rare condition?

In this episode of Rare Connection, Joanna talks with rare disease advocate, author, and Rare Genes Movement co-founder Melissa White Boyer about her son Parker's journey with Wiedemann-Steiner syndrome (WSS), a rare genetic disorder associated with changes in the KMT2A gene.

Melissa shares the signs that eventually led to Parker's diagnosis, what it was like to receive an answer for a condition few people have heard of, and the challenges that continued after the diagnostic odyssey was over.

We also explore why rare genetic disorders don't always look like their textbook descriptions, how WSS can overlap with other genetic syndromes, and what happens when families find themselves educating healthcare professionals about their child's condition.

Melissa discusses the gaps she encountered after Parker's diagnosis and how those experiences helped lead to Rare Genes Movement, which supports families across rare diagnoses.

We also talk about inclusion and Melissa's children's book, I Am Rare, including one particularly powerful question from the story: Does the world have room for me? Melissa explains what she wanted that message to mean for children with rare conditions—and for the people and communities around them.

In this episode:

• Parker's road to a Wiedemann-Steiner syndrome diagnosis
• WSS and the KMT2A gene
• Why someone with WSS may not have every "classic" feature
• Conditions that can resemble WSS
• Navigating healthcare after a rare diagnosis
• When parents know more about a rare condition than their healthcare providers
• The gaps that inspired Rare Genes Movement
• Inclusion, belonging, and disability
• The story and message behind I Am Rare
• What Melissa hopes doctors and researchers will learn from families like hers

Rare disease is more than a diagnosis—and a medical chart can never tell us everything about the person behind it.

Check out Melissa's Book I Am Rare available on Amazon:  I Am Rare: White Boyer, Melissa, Piwowarski, Marcin: 9798993195902: Amazon.com: Books

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How do you advocate, communicate, and maintain independence when you can't rely on your own voice or easily transfer from bed to wheelchair?

In Part 1 of this special two-part episode of Rare Connection, I sit down with Jeneva Stone, Maryland NORD Ambassador, disability advocate, and mother of Rob Stone, who lives with the ultra-rare movement disorder DYT-PRKRA.

This episode focuses on the innovative technology that has transformed Rob's daily life. We discuss the differences between ceiling-mounted and traditional Hoyer lifts, why insurance and Medicaid may cover this life-changing equipment, and how adaptive technology has increased both safety and independence.

You'll also hear Rob deliver part of one of his own advocacy speeches using his eye-gaze communication device—a powerful reminder that communication is about far more than speech.

In this episode you'll learn:

•  What a ceiling-mounted Hoyer lift is and why some families choose it over a traditional lift. 
•  How Medicaid and insurance may help cover adaptive equipment. 
•  How eye-gaze technology allows people who are unable to speak verbally to communicate. 
•  The challenges Rob faced while learning to use eye-gaze technology. 
•  How adaptive technology can empower advocacy and independence. 

Coming in Part 2:
We'll explore DYT-PRKRA, Rob's diagnostic journey, how the condition differs from Parkinson's disease, additional caregiving considerations, and the remarkable advocacy work Rob and Jeneva continue to do for the rare disease community.

I also like that this description doesn't mention the recording issue at all. To the audience, it simply feels like you intentionally divided the conversation into:

• Part 1: Adaptive technology and independence. 
• Part 2: Diagnosis, caregiving, and advocacy. 

Given the material you've described, I think that's a natural split and one that should keep listeners looking forward to the second episode.

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Living with Narcolepsy | Heather's Journey from Surviving to Thriving

Narcolepsy is often misunderstood. Many people associate it with suddenly falling asleep, but the reality is far more complex. Living with narcolepsy can affect work, school, relationships, and everyday life, and many people spend years searching for the right diagnosis.

In this episode of Rare Connection, Joanna sits down with Heather, the Maine NORD (National Organization for Rare Disorders) Ambassador, who is also Miss Maine for America Strong 2026 and preparing to compete for the national title. Heather shares her personal journey of living with narcolepsy, becoming an advocate, and inspiring others with her message that it is possible to go from surviving to thriving.

During this conversation, you'll learn:

• What narcolepsy is and how it affects daily life
• Why narcolepsy is frequently misunderstood and misdiagnosed
• Heather's journey to diagnosis
• How advocacy has shaped her life
• Her role as Maine's NORD Ambassador
• How competing as Miss Maine for America Strong has given her another platform to raise awareness
• Why hope, education, and community matter for people living with rare and chronic conditions

Whether you're living with narcolepsy, supporting someone who is, working in healthcare, or simply interested in learning more about rare diseases, this episode offers insight, encouragement, and practical awareness.

About Rare Connection

Hosted by Joanna Ball, Rare Connection shares the stories of patients, caregivers, advocates, researchers, and clinicians from across the rare disease community. Through connection, education, and conversations about research and clinical trials, the podcast aims to improve awareness and help people affected by the more than 10,000 known rare diseases.

Connect with Rare Connection

• Subscribe for new episodes.
• Follow Rare Connection on YouTube, Facebook, and your favorite podcast platform.
• If you have a rare disease story or work in rare disease advocac
• Connect with Heather: LinkedIn: Heather DiBenedetto | LinkedIn
• Instagram @Heatherbwalker

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What happens when someone with a background in scientific research becomes the patient?

In this episode of Rare Connection, I welcome Christine McGarvey, Pennsylvania State Ambassador for the National Organization for Rare Disorders (NORD), member of the Undiagnosed Diseases Network Foundation (UDNF) PEER Group, scientist, educator, advocate, and mother.

Christine's journey is unlike most. Despite earning degrees in biochemistry, cell and molecular biology, and science education, she has spent years searching for answers for her own undiagnosed condition while also advocating for her child, who remains undiagnosed. Their family's story spans three generations, as Christine's mother also lived with an undiagnosed condition.

Together, we discuss what it's like to experience the healthcare system from both sides—as a researcher who understands the science and as a patient and caregiver still searching for answers. Christine shares her experiences with the diagnostic odyssey, advocacy, research, the Undiagnosed Diseases Network Foundation, and the importance of bringing patients, clinicians, researchers, and advocacy organizations together to improve the future for those living with rare and undiagnosed diseases.

This conversation also highlights the power of collaboration. Throughout the episode, we encourage the rare disease community to share research, resources, patient registries, and connections that may help families still searching for answers.

Whether you're a patient, caregiver, healthcare professional, researcher, or simply interested in rare diseases, Christine's story is a powerful reminder that every unanswered question deserves to be explored—and that meaningful connections can help move research forward.

Guest: Christine McGarvey
• Pennsylvania State Ambassador, National Organization for Rare Disorders (NORD)
• Member, Undiagnosed Diseases Network Foundation (UDNF) PEER Group
• Scientist, educator, advocate, and mother

Resources Mentioned

•  National Organization for Rare Disorders (NORD) https://rarediseases.org/
•  Undiagnosed Diseases Network Foundation (UDNF) Home Page - UDNF
•  Global Genes https://globalgenes.org/
•  Rare-X RARE-X – Patient's Data Powering Progress
•  Every Life Foundation for Rare Diseases EveryLife Foundation for Rare Diseases

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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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