Rare Connection

Send us Fan Mail

What happens when signs of a second rare condition are dismissed because a child already has one diagnosis?

For HCU Awareness Month, Joanna Ball welcomes Joseph, a father from the United Kingdom, to share the story of his 14-year-old son, Mathew. The youngest of five children, Mathew is nonverbal and lives with Classical Homocystinuria (HCU) and neurofibromatosis type 1 (NF1).

Concerns about missed developmental milestones eventually led to a metabolic specialist and Mathew’s HCU diagnosis at age seven. Joseph describes problems with earlier lab testing that delayed answers. Despite Mathew showing signs of NF1, Joseph recalls being told the two conditions were not expected to coexist. Mathew received his NF1 diagnosis at age nine.

Joseph’s wife and one of Mathew’s siblings also have NF1. Mathew’s siblings have not been tested for HCU.

The conversation explores getting parental concerns heard, supporting a nonverbal child, eye concerns—including loose lenses and reluctance to wear glasses—and travelling with additional care needs.

Through Rare Connection, Joanna frequently hears from people living with multiple diagnoses. Mathew’s story reinforces why new symptoms deserve investigation, even when a diagnosis is already established.

This conversation highlights how gaps in rare disease education, outdated information, and limited research funding can leave families searching for answers. Patients and caregivers often develop detailed knowledge of their conditions that deserves to be heard and considered alongside clinical expertise. Through Rare Connection, Joanna brings these experiences into public view to encourage learning, support research, and help families get their concerns taken seriously.

SUPPORT, INFORMATION AND FUNDRAISING

Alex & Any ambassador link

https://alexandandy.com/?ref=JOANNABALL

HCU Network America:
https://hcunetworkamerica.org/

HCI Network America is a 501c3 nonprofit (EIN) is 81-3646006.

Donations go towards research and education and are tax deductatble Thanks in advance to anyone who donates.  You can donate to any of the Homocystinurias by following the link:  Research Funding Thermometers - HCU Network America

Support HCU Network America:
https://hcunetworkamerica.org/how-to-donate/

Nerve Tumours UK—information and support:
https://nervetumours.org.uk/

Support Nerve Tumours UK:
https://nervetumours.org.uk/get-involved/donate

NHS information about NF1:
https://www.nhs.uk/conditions/neurofibromatosis-type-1/

CLINICAL RESEARCH

Explore HCU studies:
https://clinicaltrials.gov/search?cond=Homocystinuria

Explore NF1 studies:
https://clinicaltrials.gov/search?cond=Neurofibromatosis%20Type%201

Check each study’s current recruitment status, locations and eligibility requirements, and discuss participation with your care team.

Support the show

Send us Fan Mail

In this episode, Joanna speaks with Wes Michael, President and Founder of Rare Patient Voice, a market‑research industry veteran with over 40 years of experience. Wes shares how his unique background — from an MBA at the University of Chicago Booth School of Business to a BA in English from the University of Pennsylvania — shaped his mission to build a patient‑driven research panel that puts privacy, trust, accessibility, and respect at the center.

Wes explains how Rare Patient Voice began by elevating rare‑disease communities and has now expanded to include people living with common conditions, creating one of the most trusted patient‑insight networks worldwide. He breaks down why finding the right patients matters, how patient voices influence research and product development, and why paying patients for their expertise and time is essential for ethical, high‑quality insights.

This conversation dives into:

• How Rare Patient Voice finds and connects patients and caregivers with meaningful research opportunities
• Why a patient’s voice matters more than ever in shaping future treatments and technologies
• The importance of privacy, data protection, and trust in patient‑research partnerships
• How to protect yourself when participating in studies
• Why accessibility and fair compensation are non‑negotiable
• What Wes sees coming next for patient engagement, global expansion, and the future of patient‑driven research

Wes also shares personal stories — from running cross country in Edinburgh to walking Ace and Stanley, his beloved dogs — and reflects on the joy of hearing from patients who feel empowered after participating in a study.

 #RareConnection #RarePatientVoice #PatientAdvocacy #PatientExperience #PatientInsights #MarketResearch #HealthcareResearch #PatientVoice #PrivacyInHealthcare #DataProtection #AccessibilityMatters #PayPatientsFairly #CaregiverVoices #RareDiseaseCommunity #CommonConditions #MedicalResearch #PatientStories #HealthEquity #PatientCenteredCare #ResearchEthics #HealthcareInnovation #PatientPanel #GlobalHealthResearch #PodcastEpisode 

Support the show

Send us Fan Mail

In this episode of Rare Connection, Joanna speaks with Jeneva and Roger Stone and their son Rob about living with Dystonia-Parkinsonianism, a rare neurological condition affecting movement and speech.

Rob communicates using eye-gaze technology and shares his perspective on communication, independence, advocacy, caregiving, and his hopes for future employment. The Stone family also discusses ceiling-track Hoyer lifts, limitations in insurance coverage, and how the right equipment can improve safety and independence for disabled people and their caregivers.

#denovo, #Parknson's Disease, #DYT16, #EyeGsze, #Nonverbal

Support the show

Send us Fan Mail

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

Support the show

Send us Fan Mail

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.

Support the show

Send us Fan Mail

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

Support the show

Send us Fan Mail

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

Support the show

Send us Fan Mail

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 

Support the show

Send us Fan Mail

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

Support the show

Send us Fan Mail

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.

Support the show