Rare Connection
Formerly Nutrition Equity, rare connection is an extension of the podcast to include all 10,000 rare conditions and not just those covered by the Medical Nutrition Equity Act. Some of the conditions may be the same, but I am trying to turn this into a learning experience for those in the medical feild, policy leaders, and those who are just interested in hearing about rare conditions and patient stories. Rare conditions are called zebras hence the zebra striped ribbon. More common conditions are called horses. Doctors tend to learn a lot about the common conditions, but rare conditions are a paragraph in a text book at best because the medical field isn't looking at the whole picture. Rare conditions when combined are actually bigger than cancer and strokes combined and if you have a rare condition you most likely have more than one or will develop another within your lifetime. As someone with a rare condition myself (Homocystinuria or HCU), know that having a rare condition can be very lonely. Thereis normally a phsycological aspect to any rare condition, and because of lack of understanding they often go undiagnosed or misdiagnosed which can cause serious health consequences or even death. If you are interested in talking and feel comfortable on camera please contact me at joanna.ball41@gmail.com. I have a visual version of this podcast on YouTube also under my cooking channel Rare Chef.
Episodes
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 disea...
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 ...
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 epis...
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 mos...
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 a...
In this episode of Rare Connection, I’m joined by physician-scientist and biotech CEO Dr. Steven Quay to discuss an emerging approach to treating Duchenne muscular dystrophy—and how innovation in one area of medicine may open doors for others.
Dr. Quay is the CEO of Atossa Therapeutics, where his team is developing (Z)-endoxifen, a next-generation endocrine therapy originally studied in breast cancer. Unlike tamoxife...
What is it like to live with multiple rare brain malformations and severe epilepsy?
In this episode of Rare Connection, Joanna speaks with Glenn Schallman, who has been diagnosed with three extremely rare neurological conditions:
- Schizencephaly
- Polymicrogyria
- Hypothalamic Hamartoma
For more than fifteen years Glenn lived with 10–20 seizures every day, severe head pain, and neurological symptoms that dramatically...
This Rare Disease Awareness Month, I’m honored to share the extraordinary survival story of writer, performer, and patient advocate Taylor Coffman.
After giving birth to her daughter, Taylor experienced a catastrophic medical crisis now being reconsidered by experts as pregnancy-induced complement-mediated thrombotic microangiopathy — a name that more accurately reflects what happens when childbirth triggers uncontro...
This episode features Candace, who lives with spinal muscular atrophy (SMA), a rare genetic and progressive neuromuscular condition. Diagnosed at 18 months, she shared her early experiences growing up with SMA, including navigating mobility loss and accessibility barriers throughout childhood.
Candace talked about her early career in the entertainment industry and the challenges she faced as a disabled Black woman, e...
In honor of Rare Disease Awareness Month, this episode of Rare Connection explores one of the most urgent topics facing the rare and ultra-rare community: global access to clinical trials.
Families around the world often discover that the only realistic path to treatment lies outside traditional U.S. research routes. Trials can require millions of dollars before enrollment even begins, leaving many conditions with no...
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 Off...
In this episode of Rare Connection, Joanna sits down with writer, photographer, paraeducator, and disability advocate Michelle Steiner to talk about life with dyscalculia, an often-misunderstood learning disability that affects number sense and math.
Michelle shares her journey from being told she “couldn’t” — couldn’t go to college, couldn’t get a degree, couldn’t get published — to proving every one of those predic...
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, idiopath...
In this episode of Rare Connection, I talk with Jillian Kavanagh, a nurse practitioner and parent to Ellie, who was diagnosed with Okur-Chung Neurodevelopmental Syndrome (OCNDS) at age 4. With only about 300 known cases worldwide, OCNDS is an ultra-rare genetic condition caused by variants in the CSNK2A1 gene.
Jillian shares the challenges of Ellie’s early epilepsy diagnosis, the long road to genetic testing, and how...
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 ...
Imagine discovering that a life-saving treatment for your rare condition exists — but you can’t get it because it’s not available or affordable in your country. That’s the reality for countless families around the world.
In this global episode of Rare Connection, host Joanna Ball sits down with Aayush Goyal, founder of MedsPartner, a platform that helps patients legally access medications from other countries through...
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 ...
In this powerful episode of Rare Connection, host Joanna Ball sits down with special needs mom and author Keyundra, who shares the emotional and medical journey of her son Zaire — a child living with multiple rare conditions, including:
🫁 Laryngomalacia – a rare airway disorder
🦠 Neutropenia – a rare immune disorder
🧬 TNRC6B gene mutation syndrome – linked to autism, ADHD, global developmental de...
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 tr...
In this powerful episode of Rare Connection, we meet Paul, the president of Cure CLCN6 and the father of Paxton, a young boy diagnosed with an ultra-rare visit mutation on the CLCN6 gene.
Paxton’s journey began with developmental delays and years of unanswered questions. After extensive genetic testing, his family finally received a diagnosis—one so rare that few doctors had even heard of it. Today, Paul is leading t...
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