Rare Connection
Rare Connection is a podcast dedicated to rare diseases, undiagnosed conditions, patient advocacy, medical research, and the people working to improve the lives of those living with rare disorders.
Originally launched as Nutrition Equity, the podcast expanded into Rare Connection to reflect its broader mission: sharing the stories, science, and research behind all 10,000+ known rare diseases—not just those related to the Medical Nutrition Equity Act.
Each episode features conversations with patients, caregivers, physicians, researchers, nonprofit leaders, advocates, and biotechnology experts. Together, we explore rare diseases, genetic disorders, newborn screening, clinical trials, emerging treatments, healthcare policy, diagnostic journeys, and the challenges of living with conditions that are often misunderstood.
In medicine, common conditions are often referred to as "horses," while rare diseases are known as "zebras." Although each rare disease affects relatively few people, more than 300 million people worldwide live with a rare disease. Collectively, rare diseases impact more people than many realize, yet they are frequently underdiagnosed, misdiagnosed, or diagnosed only after years of searching for answers.
I host this podcast not only as an advocate, but also as someone living with Homocystinuria (HCU), a rare inherited metabolic disorder. I understand firsthand how isolating a rare diagnosis can be and how important education, research, and community are for patients and families.
Whether you are a patient, caregiver, healthcare professional, researcher, policymaker, student, or simply curious about rare diseases, Rare Connection aims to educate, inspire, and connect people through real conversations and expert insights.
Video episodes are available on YouTube through Rare_Chef, with audio available on all major podcast platforms.
If you have a rare disease, undiagnosed condition, or work in rare disease research, advocacy, or healthcare and would like to be a guest, I'd love to hear from you. Please contact me at joanna.ball41@gmail.com.
Rare Connection is more than a podcast—it's a growing community. Beyond sharing educational interviews, I help connect patients and families with rare disease organizations, Facebook support groups, advocacy groups, clinical trial information, researchers, and others who may be able to provide support or answer questions. Sometimes the most important step is simply helping someone realize they are not alone.
Rare Connection
Rare Connection 3rd Anniversary Episode With Dr. Margurite Goiter-Stam from Make a Wish International
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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.