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
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 the...
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 ...
In this special Rare Connection Live episode, host Joannal celebrates 2 years of amplifying rare voices by welcoming Serena, a rare disease advocate and parent from New Zealand.
Serena’s daughter lives with GLUT1 Deficiency Syndrome, a rare metabolic disorder that impairs glucose transport to the brain — leading to seizures and neurodevelopmental challenges. One of the most critical treatments? A clinically managed ket...
In this episode of Rare Connection, host Joanna sits down with Tami — a teacher, advocate, and mother of 7-year-old Jonathan, who lives with a rare ANK3-related disorder. Tami shares her family's diagnostic journey, how Jonathan's multiple conditions impact their daily life, and how she balances caregiving with her work in early childhood education.
We discuss:
- Jonathan’s rare disease diagnosis and overlap...
🧠 Mental health is rarely optional when you're living with a rare disease. Join Joanna, host of Rare Connection, for a powerful live conversation with Frank, a rare disease patient and mental health advocate who's working to make support more accessible for our community.
🌍 Living with sarcoidosis and other chronic conditions, Frank brings a deeply personal and professional perspective. He recently moderate...
In this episode, I sit down with Brenda, a woman navigating the challenges of a painful, disabling, and unnamed orphan disease. Despite testing negative for VEXAS, relapsing polychondritis, and MAGIC syndrome, Brenda continues to suffer from spontaneous tendon tears and systemic inflammation. One key clue? She is HLA-B27 positive, a genetic marker linked to certain autoimmune conditions — but her exact diagnosis remai...
In this episode of Rare Connection, host Joanna Ball speaks with [Guest Name], who shares their powerful journey with [Rare Disease]. Together, they discuss diagnosis challenges, treatment paths, daily life, and advocacy work. Whether you're a patient, caregiver, medical professional, or just curious—this conversation brings rare insight into a rarely understood condition.
💡 New! Listener Quiz
Stick around t...
In this milestone 50th episode of Rare Connection, host Joanna sits down with Jenny, the powerful voice behind the blog Life’s A Polyp. Diagnosed with Familial Adenomatous Polyposis (FAP) as a child, Jenny underwent a total colectomy at age 9, followed by a series of life-threatening complications that led to multiple surgeries, an ileostomy, a reversal, and eventually the diagnosis of Short Bowel Syndrome (SBS) — one...
In this episode of Rare Connection, I sit down with Ben, a rare disease researcher and advocate with over 15 years of experience in cell and molecular biology, clinical research, and leadership. Ben shares his personal journey living with lymphocytic colitis and oral lichen planus—two often misunderstood conditions—and his professional insights from working on projects like the CoRDS Rare Disease Registry and the Expe...
Melissa was 17 when she had her first child Evan. Evan was born with a cleft palate and developed 30 other conditions throughout his life. He wasn't expected to live and doctors told her to take him home and let him pass naturally. She was given what she calls a never list (He will never sit up, he will never talk, he will never stand etc). She was told she could have other children. When she did become preg...
Guest: Khartik Uppalapati, Co-founder of RareGen Youth Network
Episode Description:
In this episode of Rare Connection, host Joanna welcomes Khartik Uppalapati, a remarkable young leader at the intersection of biomedical research and rare disease advocacy. Khartik shares his personal journey with rare conditions, which ignited his passion for scientific innovation and healthcare policy reform.
We delve into Khartik'...
Guest(s): Allison & Elizabeth
Episode Summary
In this episode of Rare Connection, I’m joined by twin sisters Allison and Elizabeth, who both have familial Cerebral Cavernous Malformation (CCM)—a rare genetic condition that causes clusters of abnormal blood vessels in the brain and spinal cord. They share their personal diagnosis journeys, how CCM has impacted their lives, and the ways they manage symptoms and advoca...
Rare disease patients often face long diagnostic delays, limited access to clinical trials, and challenges in finding treatments. Traditional medical records don’t always capture the full picture, making it harder to identify and support these patients. But what if advanced data and AI could change that?
In this episode of Rare Connection, I’m joined by Jeff McDonald, CEO of Kythera Labs, to discuss how AI and data ana...
In this episode of Rare Connection, Mimi shares her 20-year battle for a Sjögren’s syndrome diagnosis—a disease often misunderstood as just a "dry eye disorder" but one that led to respiratory failure and lung scarring in her case. She opens up about her journey with pulmonary fibrosis, nightly oxygen therapy, and the challenges of being taken seriously by medical professionals.
Beyond her health struggles, M...
In this episode of Rare Connection, I sit down with Chris, aka Mr. Ohh, who shares his journey of living with AATD, undergoing weekly infusions, and facing the challenges of this condition—all while using humor as his greatest weapon. We dive into what it’s like to navigate daily life with AATD, the lung-liver connection, and how laughter helps him push through even the toughest days.
📢 Don’t forget to SUBSCRIBE!
...
Hereditary Hemochromatosis (HHC) is a genetic condition that causes the body to absorb too much iron, leading to serious health complications if left untreated. Many people go undiagnosed for years, mistaking symptoms for other conditions.
In this episode of Rare Chef, I sit down with Michael J. Tallon, an author, traveler, and rare disease advocate, to discuss his personal journey with hemochromatosis. Michael’s battl...
Join me as I talk with Risa about her diagnosis with Acromegaly (A rare benign cancer). Learn about Risa's Symptoms and how she deals with her condition on a day to day basis. Risa decided shortly after having surgery to go on a 1845 mile bike ride from Colorado to Mexico despite her doctors advising against it. You can read more about her story in her book The Road Unpaved: Border to Border with a Brain Tumor...
In this episode I talk with Danielle, a parent of a daughter Elsa with PKU and children's book author. Her book Rosey Racoon Has PKU is available on Amazon, See link below. In this episode I talk with Danielle about Her daughter's diagnosis with PKU, and the fears and challenges she went through as a parent, her daughter's symptoms when her levels are high VS when they are normal, The PKU diet, Advic...
In this episode of Rare Connection, Joanna sits down with Rori, Vice President of the Superficial Siderosis Research Alliance (SSRA), to explore the complexities of Superficial Siderosis (SS), a rare and progressive neurodegenerative condition. Together, they discuss:
Not many think of men when they think of breast cancer. Phil found a lump under his left breast while playing with his daughter Evie. Join me as i delve into this important topic. Find out what to look for the symptoms, treatment, about various support groups and more. You can contact me to let me know you thoughts through the link in the show notes. Don't forget to leave a review and please subscribe on wha...
Popular Podcasts
If you've ever wanted to know about champagne, satanism, the Stonewall Uprising, chaos theory, LSD, El Nino, true crime and Rosa Parks, then look no further. Josh and Chuck have you covered.
The latest news in 4 minutes updated every hour, every day.
Does hearing about a true crime case always leave you scouring the internet for the truth behind the story? Dive into your next mystery with Crime Junkie. Every Monday, join your host Ashley Flowers as she unravels all the details of infamous and underreported true crime cases with her best friend Brit Prawat. From cold cases to missing persons and heroes in our community who seek justice, Crime Junkie is your destination for theories and stories you won’t hear anywhere else. Whether you're a seasoned true crime enthusiast or new to the genre, you'll find yourself on the edge of your seat awaiting a new episode every Monday. If you can never get enough true crime... Congratulations, you’ve found your people. Follow to join a community of Crime Junkies! Crime Junkie is presented by audiochuck Media Company.
The Clay Travis and Buck Sexton Show. Clay Travis and Buck Sexton tackle the biggest stories in news, politics and current events with intelligence and humor. From the border crisis, to the madness of cancel culture and far-left missteps, Clay and Buck guide listeners through the latest headlines and hot topics with fun and entertaining conversations and opinions.
Current and classic episodes, featuring compelling true-crime mysteries, powerful documentaries and in-depth investigations. Follow now to get the latest episodes of Dateline NBC completely free, or subscribe to Dateline Premium for ad-free listening and exclusive bonus content: DatelinePremium.com