Rare Connection

Send us Fan Mail 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 hea...

Send us Fan Mail Iss rare disease journeImagine waking up every day knowing even a light touch could cause your skin to tear or blister. That’s the reality for children and adults living with Recessive Dystrophic Epidermolysis Bullosa (RDEB) — a severe rare genetic condition where skin and mucous membranes are extremely fragile. In this episode of Rare Connection, host Joanna speaks with Professor Mark Lowdell — Chief Scientific Officer & Co-Founder of INmune Bio and Professor of Cell &am...

Send us Fan Mail In this powerful episode of Rare Connection, Joanna Ball speaks with Saida Mahoney — a beauty queen, author of nine books, athlete, performing artist, and National Rare Disease and Disability Advocate living with Partial Trisomy 8q Duplication Syndrome, an ultra-rare genetic condition. Saida shares her journey growing up with neurological challenges and multiple types of epilepsy, including focal, grand mal, idiopathic, and absence seizures. Her story is one of resilience, fa...

Send us Fan Mail In this episode of Rare Connection, Joanna speaks with Liz, mother of Stephanie, about the ultra-rare IRF2BPL genetic disorder—also known as NEDAMSS—and the groundbreaking milestone of the first-ever IRF2BPL gene replacement therapy. We discuss what this means for the rare disease community, the hope it brings to families, and the path toward future treatments. In the video version of this episode, you’ll also see a moving photo tribute of Stephanie’s life, highlighting both ...

Send us Fan Mail What’s the difference between palliative care and hospice? Why is palliative care still misunderstood—and how can it support people with cancer, rare diseases, and other serious conditions long before end-of-life? In this powerful episode of Rare Connection, host Joanna Ball welcomes Ann, a licensed psychotherapist, breast cancer survivor, and caregiver to her husband who is living with metastatic prostate cancer. Anne is also the clinic manager and palliative care social wo...

Send us Fan Mail In this episode of Rare Connection, host Joanna speaks with Stephanie from the EveryLife Foundation for Rare Diseases, who shares her journey living with Idiopathic Intracranial Hypertension (IIH)—a rare neurological disorder involving increased pressure around the brain with no detectable cause. Stephanie opens up about the long path to diagnosis, the life-altering symptoms of IIH, and how she eventually accessed treatment through an off-label use of a GLP-1 weight loss drug...

Send us Fan Mail In this episode of Rare Connection, host Joanna speaks with Regina, a sarcoidosis patient, author, and creative advocate who’s transforming her personal health journey into a source of awareness and empowerment. After her sarcoidosis diagnosis, Regina launched UniquelySarc, a handmade earring line dedicated to raising sarcoidosis awareness. She is the author of To Hell with Sarcoidosis and Other Illnesses and actively supports the rare disease community by moderating the AnCa...